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Celiac.com 06/04/2020 - Currently, in order to properly diagnose celiac disease based on serology and duodenal histology, doctors need patients to be on gluten-containing diets, even if they are causing symptoms, and this is called a "gluten challenge." This is a problem for many people, especially those who have already given up gluten, and see benefits from the gluten-free diet. For those people, going back on gluten for several weeks can be demoralizing. For many, it's a deal breaker. This can present challenges for doctors attempting to diagnose celiac disease. According to the University of Chicago Celiac Disease Center, a gluten challenge should be done as follows: Eat gluten prior to celiac disease blood tests: The amount and length of time can vary, but is somewhere between 2 slices of wheat bread daily for 6-8 weeks and 1/2 slice of wheat bread or 1 wheat cracker for 12 weeks 12 weeks; Eat gluten prior to the endoscopic biopsy procedure: 2 slices of wheat bread daily for at least 2 weeks; A Three Month Gluten Challenge May be Necessary, and the Length Can Differ Between Kids and Adults In a 2013 study by Maaike J. Bruins, of the DSM Biotechnology Center, The Netherlands, found that: Future Tests May Spot Celiac Disease Without Prolonged Gluten Consumption Research on systemic cytokine release that occurs after gluten sensitive individuals ingest gluten may lead to new tests that can spot celiac disease without gluten consumption, however, until further research is done, and such tests are developed and made available, a gluten challenge will be necessary to make a formal celiac disease diagnosis.

Celiac.com 02/05/2023 - If you have celiac disease symptoms, for example chronic diarrhea, anemia, bloating, abdominal pain, rashes, are in a higher risk group, etc., your doctor may order a blood test for celiac disease. Note that before doing any blood tests for celiac disease you must be eating gluten for a while beforehand, and the amount and length of time can vary, but is somewhere between 2 slices of wheat bread daily for 6-8 weeks and 1/2 slice of wheat bread or 1 wheat cracker for 12 weeks, otherwise you may end up with false negative results. For a celiac disease antibody test, a clinician collects a small amount of the patient's blood. The sample is then sent to a lab, where the blood cells are then removed, and the test is conducted. Celiac Disease Blood Tests Note that the accuracy and specificity of each test can vary depending on the laboratory performing the test, the specific method used, and the population being tested. Sensitivity refers to the ability of a test to correctly identify individuals with the condition (true positive rate), while specificity refers to the ability of a test to correctly identify individuals without the condition (true negative rate). tTG-IgA (tissue transglutaminase IgA) Blood Test for Celiac Disease This test measures the levels of IgA antibodies to tissue transglutaminase, an enzyme that is involved in the immune response to gluten in those who have celiac disease. The test is estimated to have a sensitivity of approximately 90%, which means that it correctly identifies 90% of people with celiac disease. It also has a high specificity of around 95%, which means that it correctly identifies 95% of people who do not have celiac disease. Other Names for the tTG-IgA Test: Tissue Transglutaminase IgA Test Anti-Tissue Transglutaminase IgA Test tTG-IgA Blood Test tTG-IgA Serology Test IgA-tTG Antibody Test Tissue Transglutaminase Antibody IgA Assay tTG-IgG (tissue transglutaminase IgG) Blood Test for Celiac Disease This test measures the levels of antibodies to tissue transglutaminase, but it specifically measures IgG antibodies rather than IgA antibodies which are produced in people who eat gluten and have celiac disease. It is not as sensitive or specific as the tTG-IgA test, but it may be useful in cases where a person has an IgA deficiency, which can occur in approximately 2-3% of people with celiac disease. In these cases, the tTG-IgG test may be positive while the tTG-IgA test is negative. However, the tTG-IgG test is not recommended as a first-line screening test for celiac disease. The sensitivity of the tTG-IgG blood test is generally high, ranging from 85% to 98%. This means that the test can accurately detect celiac disease in a significant percentage of people who have the condition. The specificity of the tTG-IgG blood test is also high, typically around 90% to 98%. This indicates that the test can effectively rule out celiac disease in individuals who do not have the condition. Other Names for the tTG-IgG Test: Tissue Transglutaminase IgG Test Anti-Tissue Transglutaminase IgG Test tTG-IgG Blood Test tTG-IgG Serology Test IgG-tTG Antibody Test Tissue Transglutaminase Antibody IgG Assay EMA-IgA (endomysial antibodies IgA) Blood Test for Celiac Disease This is a highly accurate test for celiac disease, that requires specialized expertise to perform and interpret, and it is more expensive than other blood tests. It is generally used as a last test to confirm celiac disease after a positive tTG-IgA test. The sensitivity of a test refers to its ability to correctly identify individuals with the condition. For the EMA-IgA blood test, the sensitivity is generally very high, ranging from 90% to 98%. This means that the test can accurately detect celiac disease in a significant percentage of people who have the condition. The specificity of a test refers to its ability to correctly identify individuals without the condition. For the EMA-IgA blood test, the specificity is also high, typically around 95% to 100%. This indicates that the test can effectively rule out celiac disease in individuals who do not have the condition. Other Names for the EMA-IgA Test: Endomysial Antibodies IgA Test Anti-Endomysium Antibodies IgA Test Endomysial Antibody IgA Assay EMA IgA Blood Test EMA-IgA Serology Test Endomysium IgA Ab DGP-IgA and DGP-IgG (Deamidated Gliadin Peptide) Blood Tests for Celiac Disease These tests measure the levels of antibodies in the blood, but specifically targets deamidated gliadin peptides, which are a type of gluten protein that can trigger an immune response in people with celiac disease. The tests are not always included in adults, but should be in cases with IgA deficiency. The tests should always be included when screening children, especially if they are under 2 years old. The DGP tests were created to detect celiac disease in those with IgA deficiency, and there are here is more information about them: DGP-IgA Test: This test measures the levels of IgA antibodies specific to deamidated gliadin peptide. IgA antibodies are produced by the immune system in response to gluten exposure. In individuals with celiac disease who produce normal levels of IgA, a positive DGP-IgA test result suggests the presence of ongoing immune response to gluten. DGP-IgG Test: The DGP-IgG test measures IgG antibodies against deamidated gliadin peptide. IgG antibodies are another type of immune response and may be elevated in individuals with celiac disease who have IgA deficiency (a common occurrence in celiac disease). The DGP-IgA test is considered to have high sensitivity and specificity. In general, the DGP-IgA test has been reported to have a sensitivity ranging from 75% to 95% and a specificity ranging from 90% to 100%. Overall, the DGP tests, including DGP-IgA and DGP-IgG, exhibit a sensitivity of approximately 85-95% and a specificity of about 95-98%. Other Names for the DGP-IgA Test: Gliadin Peptide Antibody IgG (Immunoglobulin A) Anti-Gliadin Antibody IgA (AGA IgA) Anti-Gliadin IgA Antibody (AGA IgA) Anti-Gliadin IgA (AGA IgA) Anti-Gliadin Immunoglobulin A Antibody (AGA IgA) Anti-Deamidated Gliadin Peptide IgA (DGP IgA) Anti-Deamidated Gliadin Antibody IgA (DGP IgA) The sensitivity of the DGP-IgG test is reported to range from 75% to 85%, which means it can correctly identify individuals with the condition in about 75% to 85% of cases. The specificity of the DGP-IgG test is reported to range from 75% to 95%, which means it can correctly identify individuals without the condition in about 75% to 95% of cases. Overall, the DGP tests, including DGP-IgA and DGP-IgG, exhibit a sensitivity of approximately 85-95% and a specificity of about 95-98%. Other Names for the DGP-IgG Test: Gliadin Peptide Antibody IgG (Immunoglobulin G) Anti-Gliadin Antibody IgG (AGA IgG) Anti-Gliadin IgG Antibody (AGA IgG) Anti-Gliadin IgG (AGA IgG) Anti-Gliadin Immunoglobulin G Antibody (AGA IgG) Anti-Deamidated Gliadin Peptide IgG (DGP IgG) Anti-Deamidated Gliadin Antibody IgG (DGP IgG) IgA Levels/Deficiency Blood Test This should always be included in any blood panel for celiac disease, but it does not test directly for celiac disease, and is done to determine the accuracy of the other blood tests. People who are IgA deficient may score lower, of have no measurable levels on certain celiac disease blood tests. This test measures the levels of Immunoglobulin A (IgA) in the bloodstream. IgA is an important antibody that plays a significant role in the immune system, particularly in protecting the body's mucosal surfaces (e.g., respiratory and digestive tracts). Low IgA levels can indicate IgA deficiency, a condition where the body does not produce enough IgA, leading to an increased risk of infections and other health issues. The IgA Levels/Deficiency Test helps healthcare providers diagnose and monitor IgA-related conditions. Other Names for the IgA Levels/Deficiency Test: Immunoglobulin A (IgA) Test Total IgA Test Serum IgA Test IgA Serum Levels Test IgA Blood Test IgA Quantitative Test IgA Antibody Test IgA Immunodeficiency Test Celiac Disease Blood Antibody Screening is ~98% Accurate in Adults Using the Mayo Clinic Protocol A celiac disease blood panel includes several tests to determine whether someone has celiac disease. These tests are very specific because certain antibodies only appear in those with gluten sensitivity, celiac disease and/or dermatitis herpetiformis. Testing begins with a test called Immunoglobulin A (IgA). If the results are normal, then a Tissue transglutaminase, antibody, IgA test is given. A weak positive should lead to the following tests: Endomysial antibodies (IgA) and; Gliadin (deamidated) antibody, IgA. If the initial Immunoglobulin A (IgA) test is lower than normal, then these two tests should be done: Tissue transglutaminase antibodies, IgA and IgG profle. Gliadin (deamidated) antibodies evaluation, IgG and IgA. If the initial Immunoglobulin A (IgA) test is below the level of detection (<1.0 mg/dL), then these two tests should be done: Tissue transglutaminase (tTG) antibody, IgG. Gliadin (deamidated) antibody, IgG. It sounds complicated, but it's pretty standard procedure now, and when blood screening is done this way the results for celiac disease are ~98% accurate. Many People Can Be Diagnosed Using Only Blood Tests and No Biopsy According to the latest research, if the blood test results are at certain high levels that range between 5-10 times the reference range for a positive celiac disease diagnosis, it may not be necessary to confirm the results using an endoscopy/biopsy: Blood Test Alone Can Diagnose Celiac Disease in Most Children and Adults TGA-IgA at or Above Five Times Normal Limit in Kids Indicates Celiac Disease in Nearly All Cases No More Biopsies to Diagnose Celiac Disease in Children! Biopsy Still Standard in Adult Celiac Diagnosis After positive blood tests some doctors still require a biopsy to confirm the diagnosis. However, this is changing, as new techniques allow doctors to accurately detect celiac disease in adults without a biopsy. Remember, nearly all tests and screening for celiac disease require the patient to be eating a gluten-containing diet before testing, usually you should be eating at least 1/2 slice of wheat bread or 1 wheat cracker daily for at least 2 weeks before the endoscopy. Be sure to check with your doctor for the latest protocol. Blood Tests for Follow Up Care Blood tests may also be useful in follow up care in those with celiac disease to confirm that their diet is indeed free of gluten. Also, because of the lack of standardization, keep in mind that blood test results may not be directly comparable from one lab to the next. More Celiac Disease Testing Resources What is a Gluten Challenge and How Long Must it Last? Interpretation of Celiac Disease Blood Test Results Ten Facts About Celiac Disease Genetic Testing Blood Test Questions on the Celiac Disease and Gluten-Free Forum Test results and question about gluten challenge How Long To Eat Gluten For Accurate Blood Test Read more at mayocliniclabs.com

Celiac.com 01/29/2025 - Celiac disease is a chronic autoimmune condition triggered by gluten consumption. It is known that close family members of individuals with celiac disease face a higher risk of developing the condition themselves. To better understand this risk, researchers conducted a comprehensive review and analysis of existing studies to estimate the prevalence of celiac disease among first-degree relatives and explore the symptoms they experience. The results highlight significant patterns and offer critical insights for early detection and management strategies. Study Scope and Methodology The analysis included 34 studies encompassing over 10,000 first-degree relatives of individuals diagnosed with celiac disease. First-degree relatives are defined as parents, children, and siblings. These studies used anti-tissue transglutaminase antibody tests to screen for celiac disease and confirmed diagnoses through intestinal biopsies when necessary. The researchers compiled data from multiple regions to determine both the overall prevalence of the disease and its symptoms among these close relatives. The data was further analyzed to assess differences in prevalence between various family roles, geographical regions, and the presence of symptoms. Prevalence of Celiac Disease Among First-Degree Relatives The study found that first-degree relatives of individuals with celiac disease face a significantly elevated risk of developing the condition compared to the general population. Approximately 11% of these relatives tested positive for celiac disease antibodies, and 7% had biopsy-confirmed celiac disease. Family roles played a key part in determining risk levels: Daughters had the highest prevalence rate, with 1 in 4 (23%) affected. Sisters were the second most impacted group, with a 14% prevalence rate. Brothers and sons showed lower but notable prevalence rates of 9% and 6%, respectively. Parents, particularly fathers, showed the lowest prevalence rates, around 5%. These findings emphasize the importance of targeted screening for close female relatives, particularly daughters and sisters, who appear to be at the greatest risk. Regional Differences in Prevalence The prevalence of celiac disease among first-degree relatives varied widely across different countries and regions. Some of the highest antibody prevalence rates were observed in Hungary (24%) and Cuba (19%). Similarly, Serbia (16%) and the United States (15%) reported the highest rates of biopsy-confirmed celiac disease. This variation may be influenced by genetic factors, dietary patterns, healthcare access, and cultural awareness of celiac disease. Regions with higher awareness and diagnostic capabilities are more likely to report higher prevalence rates. Symptoms and Asymptomatic Cases The study also examined the symptoms experienced by first-degree relatives with celiac disease. The majority of cases presented with gastrointestinal symptoms: Abdominal pain was the most commonly reported symptom, affecting 42% of cases. Bloating (39%) and flatulence (38%) were also frequent complaints. Interestingly, a substantial portion of relatives with celiac disease (34%) reported no symptoms at all. This underscores the silent nature of the disease in many individuals, making routine screening even more essential for early detection. Non-gastrointestinal symptoms were also noted, with pallor being the most frequent (54%), possibly indicating anemia or nutrient deficiencies. Implications for Screening and Management Given that approximately 1 in 14 first-degree relatives of celiac disease patients has the condition, routine screening of this population could play a critical role in early detection. Early diagnosis allows for timely dietary interventions, reducing the risk of long-term complications such as nutrient deficiencies, osteoporosis, and other autoimmune conditions. Daughters and sisters, who exhibit the highest risk, should be prioritized in screening programs. Additionally, healthcare providers should consider screening asymptomatic relatives, as they may unknowingly harbor the disease and its associated risks. Why This Study Matters for Families Affected by Celiac Disease This research underscores the genetic connection in celiac disease and highlights the need for vigilance among family members of diagnosed individuals. It provides a clearer picture of which relatives are most at risk and the range of symptoms they might experience—or not experience at all. For families managing celiac disease, these findings emphasize the importance of open communication with healthcare providers about familial risk and the value of proactive screening. Early detection in first-degree relatives can help prevent unnecessary suffering and improve quality of life through timely dietary changes and medical support. In conclusion, this study sheds light on the significant prevalence of celiac disease among close family members and calls for a more comprehensive approach to screening and education. By identifying high-risk individuals early, healthcare systems can better support those affected by this lifelong condition. Read more at: journals.lww.com Watch the video version of this article:

Celiac.com 06/24/2024 - Celiac disease is a common chronic autoimmune disorder that affects approximately 1 in 70 people worldwide. This condition results in damage to the small intestine when gluten is ingested. Traditionally, European countries use a case-finding approach, where general practitioners look for celiac symptoms, including family history and a history of autoimmune diseases to diagnose celiac disease. Despite this, many cases remain undiagnosed, prompting discussions about the potential benefits of population-wide screening. Italy's Screening Initiative In September, the Italian Parliament approved a national screening program for celiac disease in children aged 1-17 years. This decision followed a trial led by Professor Carlo Catassi of Marche Polytechnic University, which screened children aged 5-11 years in six Italian cities. The study found a prevalence of 1.65%, meaning nearly 1 in every 60 children had celiac disease, a rate higher than expected. Importantly, only 40% of these children were diagnosed before the trial, indicating that 60% of cases remain undiagnosed without mass screening. The Debate on Screening for Celiac Disease The idea of screening for celiac disease has been debated for nearly 30 years. In 1996, Catassi carried out the first large-scale celiac screening study in Italy, finding that for each diagnosed case, there were about seven undiagnosed cases. David Sanders, a professor of gastroenterology, noted similar situations in the UK during the 1990s. Increased awareness among doctors has improved diagnostic rates, but at least two-thirds of celiac cases remain undiagnosed, posing risks for complications like infertility, anemia, and osteoporosis. Some argue that individuals with minimal symptoms may not need to be aware of their condition, but Catassi believes early diagnosis is crucial to prevent serious health issues over time. Arguments for and Against Population-Wide Screening One major argument opposing population-wide screening is the potential for false positives. However, a 2021 study by Catassi showed that anti-tissue transglutaminase immunoglobulin A tests are highly reliable, with a sensitivity in children of 93% and specificity of 98% at diagnosing celiac disease. In this study, there were no false positives, although 2%-3% of people with celiac disease could have false negatives due to IgA deficiency. Genetic markers can help identify individuals at risk who may initially test negative. Another concern is that healthy individuals diagnosed through screening might undergo unnecessary dietary restrictions. However, evidence suggests that untreated celiac disease can lead to long-term health issues, and population-based screening in Norway showed that most undiagnosed individuals improved their quality of life on a gluten-free diet. Building the Evidence In 2017, the US Preventive Services Task Force looked at the evidence and found it insufficient to assess the benefits and harms of screening for celiac disease. Wanda Nicholson, the current chair of the task force, emphasized the need for more studies comparing outcomes of screened versus unscreened individuals and the impact of gluten-free diets among those who test positive. The Italian screening program will hopefully provide valuable insights into such questions. Catassi has argued that the overall benefits of early diagnosis will outweigh any drawbacks of screening, though he acknowledged the need to evaluate the program's results over time. Despite concerns about participation and cost-effectiveness, Sanders welcomed Italy's initiative as it could inform future policies globally. Conclusion Italy's decision to implement nationwide screening for celiac disease in children is a significant step towards understanding and managing this autoimmune disorder. The findings from this program could highlight the true prevalence of celiac disease and the benefits of early diagnosis. For those with celiac disease, especially undiagnosed cases, this screening could prevent serious health complications and improve quality of life. While further research is needed to validate the effectiveness and practicality of such screenings, Italy's program could pave the way for similar initiatives worldwide, offering hope to many affected by this chronic condition. Read more: medscape.com

Celiac.com 06/22/2024 - Celiac disease is an autoimmune disorder where gluten ingestion damages the small intestine. Traditionally, diagnosis involves blood tests for specific antibodies and a confirmatory biopsy, an invasive procedure with associated risks. Research is exploring less invasive methods, including the use of tissue transglutaminase immunoglobulin A (TTG-IgA) antibodies as a potential predictor. Study Overview A recent study presented at Digestive Disease Week 2024 investigated the accuracy of TTG-IgA antibodies in diagnosing celiac disease without biopsy. The study looked at patients located at six U.S. sites who had undergone esophagogastroduodenoscopy (EGD) and TTG-IgA testing. Exclusions were made for prior celiac diagnosis, IgA deficiency, or adherence to a gluten-free diet to maintain result accuracy. Key Findings - Patient Demographics and Biopsy Results Among 4,312 patients, 27.5% showed villous atrophy, indicating celiac disease. These patients were typically younger (average age 41) and predominantly non-Hispanic white (89.5%). They had significantly higher TTG-IgA levels, averaging five times the upper limit of normal (ULN). Diagnostic Accuracy of TTG-IgA The study revealed that over a quarter of patients had elevated TTG-IgA levels. For any level above the ULN, sensitivity was 81.8%, and specificity was 95.7%. The positive predictive value (87.7%) and negative predictive value (93.3%) supported the test's overall accuracy, which was 91%. The area that was under the receiver operating characteristic curve (AUC) was 0.92, indicating high accuracy. High TTG-IgA Levels In patients with TTG-IgA levels of more than 10 times the ULN, only two out of 132 did not have villous atrophy, resulting in a false-positive rate of 0.1%. This suggests that very high TTG-IgA levels are a strong indicator of celiac disease and could potentially reduce the need for biopsy. Implications for Noninvasive Diagnosis Lead investigator Dr. Claire Jansson-Knodell noted the potential for TTG-IgA to serve as a noninvasive diagnostic tool, particularly for patients with very high antibody levels. However, caution is advised for cases with mildly elevated TTG-IgA, where diagnostic accuracy may not be sufficient to eliminate the need for a biopsy. Future Research The research team plans to conduct a prospective study to gather more data, aiming to confirm the practicality and reliability of using TTG-IgA as a noninvasive diagnostic tool in clinical practice. Conclusion This study suggests that TTG-IgA antibodies hold significant potential as a noninvasive diagnostic indicator for celiac disease, particularly in patients with very high antibody levels. While promising, further research is needed to validate these findings and ensure the accuracy and safety of using TTG-IgA as a standalone diagnostic tool. This could lead to a future where a simple blood test replaces the need for invasive biopsy in diagnosing celiac disease. Read more: gastroendonews.com

Celiac.com 06/17/2024 - Celiac disease is a prevalent autoimmune condition in the pediatric population in the United States, characterized by chronic inflammation of the small intestine due to gluten exposure in genetically predisposed individuals. Despite its prevalence, celiac disease often remains undiagnosed in children due to the absence of typical symptoms, leading to delays in diagnosis and treatment. The controversy surrounding mass screening for celiac disease stems from a lack of comprehensive data demonstrating its benefits. The Autoimmunity Screening for Kids (ASK) study conducted by Children's Hospital Colorado aims to address this gap by assessing the outcomes of children identified with celiac disease through a mass screening program. The ASK study is designed to screen for both celiac disease and type 1 diabetes among children aged 1 to 17 years in Colorado. This study specifically evaluates the one-year outcomes of children diagnosed with celiac disease through this screening program, focusing on symptom improvement, quality of life, mental health, and dietary adherence. By providing robust data on these outcomes, the study seeks to inform the ongoing debate about the value of mass screening for celiac disease in the pediatric population. Study Design and Participants The study prospectively followed children who screened positive for tissue transglutaminase IgA autoantibodies as part of the ASK study. These children were subsequently referred for a diagnostic evaluation to confirm the presence of celiac disease through biopsy or serologic criteria. A total of 52 children diagnosed with celiac disease were enrolled in the study, and 42 of these children completed the 12-month follow-up evaluation. Data Collection and Analysis At both baseline and the 12-month follow-up, the study collected comprehensive data, including demographics, laboratory studies, symptom severity and frequency, health-related quality of life, anxiety and depression levels, and adherence to a gluten-free diet. The evaluation tools included symptom questionnaires, quality of life assessments for both children and caregivers, and dietary adherence reports. Statistical analyses such as paired Student t-tests, chi-square tests, and Wilcoxon sign-rank tests were employed to compare baseline and follow-up data, while odds of improvement in symptom scores were also assessed. Symptom Improvement and Quality of Life Out of the 42 children who completed the follow-up, 38 reported one or more symptoms at the time of diagnosis. The study found significant improvements in both the severity and frequency of celiac disease symptoms after one year on a gluten-free diet. The mean symptom severity and frequency scores decreased substantially from baseline to the follow-up evaluation, indicating a marked reduction in the burden of symptoms (P < .001). In addition to symptom relief, the study observed notable enhancements in the health-related quality of life for caregivers (P = .002). This suggests that the diagnosis and subsequent dietary management of celiac disease not only benefit the affected children but also positively impact their families' overall well-being. Nutritional and Mental Health Outcomes Iron deficiency without anemia was a common issue at baseline, affecting 87.5% (21 out of 24) of the children assessed. After one year, this rate had significantly improved, with only 52.3% (11 out of 21) of the children remaining iron deficient. This improvement underscores the nutritional benefits of adhering to a gluten-free diet in managing celiac disease. Regarding mental health outcomes, the study found no significant changes in reported anxiety or depression levels from baseline to follow-up. This indicates that while the physical symptoms and quality of life may improve with a gluten-free diet, the mental health of these children and their families may require additional support beyond dietary management. Dietary Adherence Dietary adherence is crucial for managing celiac disease effectively. The study reported high levels of adherence to a gluten-free diet among the participating families, with 26 out of 28 families rating their adherence as good or excellent. This high adherence rate is indicative of the commitment of families to the dietary changes required for managing the disease and likely contributes to the observed improvements in symptoms and nutritional status. Conclusion The findings of the Autoimmunity Screening for Kids study provide strong evidence in support of mass screening for celiac disease in the pediatric population. The study demonstrated significant improvements in symptoms, quality of life, and iron deficiency following a one-year gluten-free diet among children diagnosed through mass screening. While the impact on mental health was not significant, the overall benefits highlighted by this study suggest that mass screening can lead to timely diagnosis and effective management of celiac disease, ultimately improving the health and well-being of affected children and their families. By offering valuable data on the outcomes of mass screening, this study contributes to the ongoing discourse on the feasibility and benefits of such programs. Future research may further explore the long-term outcomes and the integration of mental health support to provide a holistic approach to managing celiac disease in children. Read more at: cghjournal.org

Celiac.com 04/25/2024 - Gluten sensitivity, also known as gluten intolerance or non-celiac gluten sensitivity, shares symptoms with celiac disease, but it's not an autoimmune disorder like celiac disease. Instead, it's a condition where the body reacts negatively to gluten without involving autoimmune proteins. Despite its prevalence, there isn't a straightforward test for gluten sensitivity or intolerance. Current testing methods primarily focus on ruling out other potential causes of symptoms, such as celiac disease, wheat allergy, irritable bowel syndrome (IBS), or inflammatory bowel disease (IBD). If celiac disease is suspected, healthcare providers typically start with blood tests to detect specific markers associated with the condition, such as anti-endomysial antibodies (EMA) or tissue transglutaminase IgA (TG-IgA). If these tests suggest celiac disease, further procedures like endoscopy and biopsy may be conducted to examine the intestines for damage. However, when celiac disease and other known conditions are ruled out, diagnosing gluten intolerance becomes more challenging. Healthcare providers may recommend starting a gluten-free diet for a period, typically around six weeks, to observe any improvements in symptoms. If symptoms alleviate during this time, it may suggest gluten intolerance as the cause. Despite the lack of definitive tests, some at-home kits claim to diagnose gluten sensitivity through stool or blood samples. Brands like EverlyWell and EnteroLab offer such tests, but their accuracy remains questionable, and the cost is usually not covered by health insurance. Understanding the distinction between celiac disease and gluten intolerance is crucial. While celiac disease requires specific diagnostic procedures and can lead to severe complications if left untreated, gluten intolerance may cause discomfort but doesn't involve autoimmune reactions. EverlyWell's Food Sensitivity Test EverlyWell offers a test called the "Food Sensitivity Test" that includes a panel for gluten sensitivity among other food sensitivities. Here are some key points about EverlyWell's test for gluten sensitivity: At-Home Test: Like other EverlyWell tests, the Food Sensitivity Test is designed for at-home use. It involves collecting a small blood sample using a finger prick and sending it to EverlyWell's partner lab for analysis. Panel for Gluten Sensitivity: The test panel includes various food items, including gluten-containing grains like wheat, barley, and rye. It tests for IgG antibodies specific to these foods, which can indicate a potential sensitivity or immune response. Detection of IgG Antibodies: IgG antibodies are part of the immune system's response and can be elevated in certain conditions, including food sensitivities. The test measures IgG antibody levels to specific foods to assess potential reactivity. Comprehensive Report: EverlyWell provides a comprehensive report based on the test results. The report typically categorizes foods into different levels of reactivity based on IgG antibody levels, ranging from low to high reactivity. Guidance and Recommendations: The test report may include guidance on dietary modifications based on the identified food sensitivities. It may recommend eliminating or reducing the consumption of foods with elevated IgG levels to see if symptoms improve. Limitations: It's important to note that the Food Sensitivity Test from EverlyWell detects IgG antibodies, which are different from the antibodies associated with celiac disease (such as anti-tissue transglutaminase antibodies). Celiac disease diagnosis typically requires specific blood tests and sometimes a biopsy of the small intestine. EnteroLab's Intestinal Antigenic Permeability Screen EnteroLab offers a stool test called the "Intestinal Antigenic Permeability Screen" that is designed to detect gluten sensitivity and other gastrointestinal issues. The test focuses on identifying antibodies to gluten and other proteins that may indicate a sensitivity or immune response. Here are some key points about EnteroLab's stool test for gluten sensitivity: Non-Invasive: The test is non-invasive and can be performed at home. It involves collecting a small stool sample and sending it to EnteroLab for analysis. Detection of Antibodies: The test looks for antibodies to gluten, as well as antibodies to other proteins like casein (found in dairy) and soy. Elevated levels of these antibodies may suggest a sensitivity or immune reaction to these proteins. Gluten Sensitivity vs. Celiac Disease: While the test can detect antibodies related to gluten sensitivity, it's important to note that it is not specifically designed to diagnose celiac disease. Celiac disease diagnosis typically involves additional tests such as blood tests for specific antibodies (e.g., anti-tissue transglutaminase antibodies) and sometimes a biopsy of the small intestine. Comprehensive Report: EnteroLab provides a comprehensive report based on the test results. This report may include interpretations of the antibody levels and recommendations regarding dietary changes if gluten sensitivity is suspected. Controversy and Criticism: It's worth mentioning that EnteroLab's testing methods and the validity of their results have been a topic of debate and controversy within the medical and scientific communities. Some experts have questioned the accuracy and clinical relevance of the stool tests offered by EnteroLab for diagnosing gluten-related disorders. In conclusion, diagnosing gluten intolerance involves a process of elimination and observation of symptom response to a gluten-free diet. Individuals experiencing symptoms should consult healthcare providers to rule out other potential causes and determine the best course of action for managing their condition.

Celiac.com 12/15/2023 - Celiac disease is a chronic condition triggered by gluten consumption, which often reveals itself through symptoms like chronic diarrhea and malabsorption. However, a significant number of patients exhibit atypical manifestations such as iron deficiency anemia, idiopathic short stature, hypertransaminasemia, or infertility. Unfortunately, due to a lack of awareness among healthcare professionals about these diverse presentations, many patients with atypical symptoms are not screened for celiac disease. A recent review aims to shed light on the considerations for diagnosing this condition, delving into screening criteria, atypical manifestations, and diagnostic tools. Patients with atypical manifestations often first approach primary care physicians or specialists outside of gastroenterology. Recognizing this, the research team conducted an extensive review of literature to understand the prevalence of celiac disease in various gastrointestinal conditions like chronic diarrhea and non-gastrointestinal conditions such as short stature, cryptogenic hypertransaminasemia, cryptogenic cirrhosis, and idiopathic ataxia. The research team included Prashant Singh, Achintya Dinesh Singh, Vineet Ahuja, and Govind K Makharia. They are variously associated with the Department of Gastroenterology, University of Michigan, Ann Arbor, MI, United States; the Department of Medicine, Cleveland Clinic, Cleveland, OH, United States; and the Department of Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi, India. Their review emphasizes the importance of awareness among healthcare professionals regarding atypical presentations of celiac disease, to facilitate timely screening and diagnosis. Additionally, it highlights special scenarios where screening is crucial, even in the absence of symptoms. Individuals with type 1 diabetes, Down’s syndrome, and first-degree relatives of celiac disease patients fall into this category, requiring careful consideration for screening. Definite Indications for Celiac Disease Screening: Patients with chronic diarrhea - Found in 43%-85% of patients. Patients with iron deficiency anemia - Affects approximately 1 in 31 celiac disease patients. Patients with short stature - Affects around 11.2% of patients with celiac disease Patients with type 1 diabetes - Around 6% of type 1 diabetics also have celiac disease. First-degree relatives of patients with celiac disease - The approximate risk of developing celiac disease is 1 in 13 in sons, 1 in 16 in brothers, 1 in 32 in mothers and 1 in 33 in fathers. Patients with dermatitis herpetiformis - Around two-third of patients with dermatitis herpetiformis have villous abnormalities and one third of them have no enteropathy, and 17% of those with celiac disease have dermatitis herpetiformis. Patients with Down’s syndrome - 5.8% of those with Down's syndrome also have celiac disease. Probable Indications for Celiac Disease Screening: Patients with liver diseases Cryptogenic hypertransaminesemia Cryptogenic cirrhosis Patients with auto-immune hepatitis Patients with irritable bowel syndrome Patients with osteoporosis Possible Indications for Celiac Disease Screening: Patients with dyspepsia Women with infertility Women with unexplained or idiopathic infertility Women with “all-cause infertility” Patients with idiopathic cardiomyopathy Patients with autoimmune thyroid diseases Patients with idiopathic epilepsy Patients with idiopathic cerebellar ataxia Patients with dental enamel defects Furthermore, the review provides insights into the diagnostic performance and limitations of various screening tests for celiac disease. It discusses specific antibodies, including IgA anti-tissue transglutaminase antibodies, anti-endomysial antibodies, and anti-deamidated gliadin antibodies. The team proposes a diagnostic algorithm based on current recommendations for patients suspected of having celiac disease. In conclusion, the review serves as a comprehensive guide for healthcare professionals, offering a nuanced understanding of who should be screened and how. By delineating atypical manifestations and considering special scenarios, it encourages a more proactive approach to celiac disease diagnosis. The proposed diagnostic algorithm aims to streamline the process, ensuring that individuals with suspected celiac disease receive timely and accurate assessments. Lastly, the review underscores the importance of broadening the perspective on celiac disease beyond its classical gastrointestinal symptoms, contributing to improved healthcare outcomes for affected individuals. Read more at: World J Gastroenterol 2022; 28(32): 4493-4507

Celiac.com 11/15/2023 - Imagine enjoying your favorite pasta dish one day, and the next day, experiencing mysterious and uncomfortable symptoms like stomach pain, vomiting, fatigue, or skin rashes. What could be causing these problems? One possibility might be celiac disease. Celiac disease is a relatively common autoimmune disorder that affects the small intestine. It's triggered by the consumption of gluten, a protein found in wheat, barley, and rye. When someone with celiac disease eats gluten, their immune system reacts by damaging the lining of the small intestine, which can lead to a wide range of symptoms and complications. Getting the diagnosis correct is important, because celiac disease is often misdiagnosed. Symptoms of Celiac Disease The symptoms of celiac disease can vary greatly from person to person, and some individuals may not experience any symptoms at all. Here are some common signs to watch out for: Digestive Troubles: Symptoms often involve the digestive system, such as diarrhea, constipation, bloating, gas, and abdominal pain. Fatigue: Many people with celiac disease report feeling excessively tired, even after a full night's sleep. Weight Loss: Unintended weight loss can occur due to malabsorption of nutrients caused by intestinal damage. Skin Issues: Some individuals develop skin conditions, itchy rashes, like dermatitis herpetiformis, which is closely linked to celiac disease. Joint Pain: Joint pain and inflammation may affect those with celiac disease. Mood Changes: Mood swings, depression, or anxiety can be related to the condition. Delayed Growth in Children: Celiac disease can hinder proper growth and development in children. Diagnosis of Celiac Disease Getting a proper diagnosis is crucial for managing celiac disease effectively. Here's how doctors typically diagnose it: Blood Tests: Initially, blood tests are done to check for elevated levels of certain antibodies, such as anti-tissue transglutaminase (tTG) and anti-endomysial antibodies (EMA). Higher levels of these antibodies can be a sign of celiac disease. Biopsy: If blood tests indicate celiac disease, a small intestine biopsy may be performed. During this procedure, a tiny sample of the intestinal lining is taken and examined under a microscope. Damage to the lining is a key indicator of the disease. In more and more cases, celiac disease can be diagnosed without biopsy. Treatment of Celiac Disease The primary treatment for celiac disease is a strict gluten-free diet. Once diagnosed, individuals need to eliminate all sources of gluten from their diet, including bread, pasta, cakes, and even certain sauces. This can be challenging, as gluten can hide in unexpected places, so reading food labels and avoiding gluten ingredients is a must. Most people with celiac disease notice significant improvements in their symptoms once they adopt a gluten-free lifestyle. Over time, the intestinal lining often heals, allowing for better nutrient absorption. In some cases, complications of celiac disease may require additional medical attention. For instance, individuals with severe malabsorption may need vitamin and mineral supplements. Dermatitis herpetiformis may be treated with medications. Living with Celiac Disease While a gluten-free diet is the cornerstone of managing celiac disease, it's also essential to be vigilant about cross-contamination. This means avoiding utensils, kitchen appliances, and cooking surfaces that have come into contact with gluten-containing foods. Celiac.com offers numerous forums for discussing celiac disease and gluten-free challenges with other celiacs who can share experience and help guide your celiac and gluten-free journey. Support groups and dietary counselors can be incredibly helpful for those newly diagnosed with celiac disease. They provide practical tips for maintaining a gluten-free lifestyle and offer emotional support during the transition. In conclusion, celiac disease is a common but manageable condition. By recognizing its symptoms, seeking a proper diagnosis, and committing to a gluten-free diet, individuals with celiac disease can lead healthy and fulfilling lives. If you suspect you have celiac disease, don't hesitate to consult a healthcare professional for guidance and testing. Your well-being is worth it!

Celiac.com 04/22/2023 - Celiac disease is an autoimmune disorder that may occur in genetically susceptible individuals. It is initiated by ingestion of gluten present in cereals, primarily wheat and to a much lesser extent other cereal proteins such as prolamines of barley and rye. Celiac disease is characterized by malabsorption resulting from inflammatory injury to the small intestinal mucosa. The classical symptoms of celiac disease include diarrhea, weight loss and malnutrition, however, only a small percentage of patients with celiac disease present with classical symptoms. Such patients represent the tip of the iceberg of gluten sensitivity. Many patients with celiac disease may present with short stature, iron and folate deficiency, anemia, bone loss, aphthous stomatitis, arthralgia, and dental enamel defects. Because of the varying and mild clinical presentations, celiac disease is often diagnosed when the patient has grown to adulthood rather than as a child. Adults may present with iron deficiency, anemia, macrocytic anemia and hypocalcemia. /* DivTable.com */ .divTable{ display: table; width: 100%; } .divTableRow { display: table-row; } .divTableHeading { background-color: #EEE; display: table-header-group; } .divTableCell, .divTableHead { border: 1px solid #999999; display: table-cell; padding: 3px 10px; } .divTableHeading { background-color: #EEE; display: table-header-group; font-weight: bold; } .divTableFoot { background-color: #EEE; display: table-footer-group; font-weight: bold; } .divTableBody { display: table-row-group; } Clinical Presentations of Celiac Disease Classical Features Atypical Chronic Diarrhea Iron-deficiency anemia Failure to thrive Dental enamel defecs Abdominal distension Short stature Osteoporosis/osteopenia Coexistence with other autoimmune disorders Diagnosis based solely on clinical criteria can be misleading and may lead to improper diagnosis and treatment as a result of the variety of clinical presentations often seen in other conditions. Problems with diagnosis has a serious impact on the patient. Delays in diagnosis commonly extend 10-13 years from the first presentation of clinical symptoms, leaving the patient subject to chronic symptoms while searching for proper diagnosis. Failure to diagnose this condition in the short term may predispose an individual to long term complications such as splenic atrophy and intestinal lymphoma. On the other hand, attempts to diagnosis a patient based primarily on clinical criteria may unnecessarily place the individuals on life long gluten-free diet as several transient conditions may mimic celiac disease clinically. /* DivTable.com */ .divTable{ display: table; width: 100%; } .divTableRow { display: table-row; } .divTableHeading { background-color: #EEE; display: table-header-group; } .divTableCell, .divTableHead { border: 1px solid #999999; display: table-cell; padding: 3px 10px; } .divTableHeading { background-color: #EEE; display: table-header-group; font-weight: bold; } .divTableFoot { background-color: #EEE; display: table-footer-group; font-weight: bold; } .divTableBody { display: table-row-group; } Cancer Morbidity on Normal, Reduced-Gluten and Gluten-Free Diet in Celiac Disease Diet Group Number Observed Malignancies Expected Malignancies Observed/ Expected Excess Morbidity Rate Normal 46 7 0.19 36.8 10.7 Reduced Gluten 56 5 0.12 41.7 5.0 Gluten-free 108 3 0.46 6.5 1.2 (Howelle PD, Is Coeliac Disease a Pre-Malignant Condition? Gastrointestinal Immunology and Gluten-Sensitive Disease, 1994. p.185) The true prevalence of celiac disease is difficult to ascertain. However, with the advent of serum antibody methods, incidences as high as one in 300 have been described in the general population, both in Western Europe and in the U.S. celiac disease is prevalent worldwide, but may be rare in individuals of Chinese and Japanese descent. /* DivTable.com */ .divTable{ display: table; width: 100%; } .divTableRow { display: table-row; } .divTableHeading { background-color: #EEE; display: table-header-group; } .divTableCell, .divTableHead { border: 1px solid #999999; display: table-cell; padding: 3px 10px; } .divTableHeading { background-color: #EEE; display: table-header-group; font-weight: bold; } .divTableFoot { background-color: #EEE; display: table-footer-group; font-weight: bold; } .divTableBody { display: table-row-group; } Prevalence of Celiac Disease Country Prevalence based upon Clinical Prevalence based upon Laboratory Finland 1:1000 1:330 Italy 1:1000 1:184 Germany 1:2300 1:500 Netherlands 1:4500 1:250 Denmark 1:10,000 1:330 USA 1:10,000 1:250 Guandalini S & Gupta P Clin appl Immun Rev 2:293-305, 2002 Historically, the diagnosis of celiac disease was based primarily on histological studies of the Jejunal biopsy characterized by villous atrophy, crypt hyperplasia, and lymphocytic and plasma cell infiltrate in the lamina propria. Histological examination of the small intestinal biopsy remains the gold standard for diagnosing celiac disease, but has its limitations. Many patients with celiac disease are small children and histological studies may be viewed by many, especially a child’s parents, to be a great discomfort. There may also be problems with accuracy. Occasionally, a biopsy with abnormally high density of intraepithelial lymphocytes with a normal villous architecture may be reported as normal. It has also been reported that some patients with latent or even active celiac disease show normal histopathology (Gastroenterlogy 104:1263-72, 1993). Celiac disease might also be confused with other disorders when diagnosed histologically. Parasitic infections (giardia lamblia) and malabsorption syndrome, for example, may mimic celiac disease histology. As these limitations have been recognized, serum antibody tests have gained acceptance in screening for celiac disease and in follow-up of patients with celiac disease to determine their compliance to a gluten-free diet. The various serological tests employed in the work-up of patients suspected to have celiac disease include anti-gliadin antibody (AGA), anti-endomysial antibody (EMA), anti-reticulin antibody (ARA) and anti-tissue transglutaminase (tTG) antibody tests. Antibodies to gliadin and tTG are detected by ELISA, whereas endomysium and reticulin antibodies are detected by indirect immunofluorescence. Of the serum antibody tests, EMA and tTG antibody primarily detects antibodies of IgA immunoglobulin isotype, whereas the AGA test detects both IgG and IgA isotypes. No IgM class antibodies to these antigens are detected in patients with celiac disease, hence there is no need to test for IgM class antibodies in the work-up of patients with celiac disease. Of these tests, AGA was the first to be described in the literature and has been evaluated most extensively. AGA of IgG are more sensitive but less specific then IgA-AGA. The major utility of IgGAGA is in celiac disease patients who are IgA deficient. In a study conducted recently in our laboratory, all of the 15 IgA-deficient celiac disease patients were found positive for IgG-AGA and negative for IgA-AGA and other autoantibodies (Celiac Disease and IgA deficiency: How effective are the serological methods of diagnosis? Clinical diagnostic lab Immunology 9:1295-1300, 2002). EMA and ARA are very specific indicators of celiac disease. These assays are immuno-histochemical methods and require experience in reading immunofluorescence reactions. Some investigators suggest that they are less sensitive. However, in all the studies conducted since our laboratory first described EMA back in 1983, we find the EMA assay to be 100% specific and sensitive for celiac disease. Other investigators may find EMA to be less sensitive due to the selection of the substrate, fixation of tissue sections, specificity of conjugate employed or serum screening dilution. Internally, we find that testing for EMA at dilutions of 1:2.5 or 1:5 yield 5% of patients positive for EMA yet negative at 1:10 or 1: 20. It could be that some of the investigators who have reported low sensitivity might be screening the patients at high serum dilutions. Since the identification of tTG as the endomyisal antigen, ELISA methods have been described for detecting antibodies in the sera of patients with celiac disease. The advantage of the anti-tTG antibody assay is that it is an automatable assay that is less subjective than EMA and it is more sensitive and specific than AGA. For these reasons, many laboratories have opted to use the tTG antibody method as the screening method. In these laboratories, it may be the only assay used for detection of celiac disease cases. In the majority of studies of the tTG antibody method, the specificity and sensitivity were found to be between 90-95%. Table 4 on page 15 summarizes the specificity of the AGA, EMA and tTG antibody methods most commonly employed by laboratories performing tests for celiac disease. /* DivTable.com */ .divTable{ display: table; width: 100%; } .divTableRow { display: table-row; } .divTableHeading { background-color: #EEE; display: table-header-group; } .divTableCell, .divTableHead { border: 1px solid #999999; display: table-cell; padding: 3px 10px; } .divTableHeading { background-color: #EEE; display: table-header-group; font-weight: bold; } .divTableFoot { background-color: #EEE; display: table-footer-group; font-weight: bold; } .divTableBody { display: table-row-group; } Diagnostic Specificity of Serological Markers for Celiac Disease Assay Specificity Sensitivity Anti-gliadin Antibody IgG 78% 88% Anti-gliadin Antibody IgA 86% 52% Anti-endomysial Antibody 100% 100% Anti-tissue transglutaminase 98% 90-95% If the prevalence of undiagnosed celiac disease is 4.8 per thousand as reported by Lagerqvist et al (J Intern Med 250:241-48, 2001) then of all the serological methods, EMA is the only method that provides 100% positive and negative predictive value for celiac disease. This raises the question of the optimum method of screening for celiac disease. The answer will vary according to the likelihood of celiac disease in the population studied and upon the experience of the laboratory performing the test. Some investigators may use the AGA or tTG antibody methods for screening and, if positive, confirm using the EMA test. We recommend this approach as it also helps to identify all celiac disease patients, whether IgA-deficient or not. Celiac disease patients are prescribed a gluten free diet for life. Serological tests are useful in monitoring a patient’s response and adherence to the gluten free diet. The levels of the various antibodies (AGA, EMA, ARA and tTG) decrease and eventually disappear in the majority of the patients on a complete gluten free diet. Similarly, these antibodies either appear or rise in level when the patient is on a gluten containing diet. Serological methods, therefore, play a significant role in both diagnosis and follow-up of celiac disease patients. Celiac disease has been associated with many other autoimmune disorders such as type 1 diabetes, thyroid autoimmunity and other autoimmune disorders. Approximately five percent of patients with type 1 diabetes have celiac disease. Similarly, approximately the same percentage of patients with celiac disease have type 1 diabetes. It has been proposed that early detection of celiac disease may be beneficial in such cases as it is believed that adherence to a gluten-free diet may delay the onset of diabetes. If true, this further emphasizes the utility of and need for serum antibody tests in the screening of population genetically susceptible for celiac disease. In conclusion, clinical symptoms of celiac disease are variable and often mild, resulting in significant delays in diagnosis. The use of serological tests has improved the ease of detection, monitoring, and hence— the continuing care of celiac disease patients.

Celiac.com 01/11/2023 - We get a lot of questions from celiac community members wondering about certain aspects of celiac disease. We especially get a lot of questions about celiac screening, including blood tests. One question we're seen a lot recently is: Why do celiac blood tests take so long? The short answer is that celiac disease blood tests, while not instantaneous, usually provide results within days or weeks. However, getting a doctor to order the blood tests can take time, depending on a few different parts of the celiac disease testing and diagnosis process. How Long Does it Usually Take to Get Diagnosed with Celiac Disease? Once doctors start looking for celiac disease, it doesn't usually take them very long to rule it in or out. In theory, a diagnosis of celiac disease is fairly straightforward. The best case would be you notice symptoms, go see a doctor, receive a quick celiac disease blood antibody panel (you need to be eating 2 slices of wheat bread's worth of gluten daily for 6-8 weeks beforehand), test positive for celiac antibodies, then undergo an endoscopy (biopsy samples will be taken - you need to be eating 2 slices of wheat bread's worth of gluten daily for at least 2 weeks beforehand) and get a confirmation. The whole process should only take a few weeks, or maybe a few months. Celiac Disease Blood Tests are Quick, but Diagnosis Can Take Years The reality is often different. While tests are quick once ordered, the reality of celiac diagnosis is often years of confusing, non-classical symptoms like fatigue, osteoporosis, and anemia, that can lead to years of doctors diagnosing other conditions, like IBS, allergies, canker sores, lactose intolerance, to name a few. Six to Ten Years for "Average" Celiac Diagnosis When people ask why celiac blood tests take so long, they're often asking why the diagnosis takes so long. Both Daniel Leffler, MD, MS, at The Celiac Center at Beth Israel Deaconness Medical Center, and the Celiac Disease Foundation say that patients face "an average delay of 6-10 years for an accurate celiac disease diagnosis." So six to ten years is one answer, it's the answer for many people. But it's not the complete answer, and it doesn't have to be the answer for everyone. Diagnosis in Weeks After Celiac Blood Screening In Italy, where celiac disease is common, all children are screened by age 6. And Italians of any age are tested for the disease as soon as they show symptoms. As a result of this vigilance, the time between when symptoms begin and the disease is diagnosed is usually only 2 to 3 weeks. How Long Does it Usually Take to Get Referred for Celiac Disease Blood Screening Tests? Those years of chasing the wrong diagnosis can mean that it can often take years for celiac disease sufferers to get referred for celiac screening. As noted, once doctors start looking for celiac disease, it doesn't usually take them very long. They usually order blood screens quickly, and then a confirmation biopsy if the screens are positive. Results of Celiac Disease Screening Tests Usually Arrive Quickly Once doctors order blood screens for celiac disease, it usually takes a matter of days of weeks for the results to come back. There's been some work to improve that by developing rapid finger prick celiac tests for children, but the results have been disappointing. So, even at a few days to weeks, it's not really the celiac blood tests that take a long time, it's the time that it might take for someone to actually get screened for celiac disease that can be long, depending on a combination of vigilance and testing practices. It can take years, but it can also take weeks or months. If you think you or a loved one may have celiac disease, do your best to note your symptoms, and to get screened by a physician. It's true that screening won't catch all cases, but it will catch most. The quicker the journey starts, the sooner an answer can be found. If you suspect celiac disease but your doctor won't order the blood panel for it, you can also order a blood screening kit via mail order for under $100. Read more on Celiac Disease Blood Antibody Tests and What You Need to Know about Celiac Disease Pre-Diagnosis and Testing.

Celiac.com 12/10/2022 - Increased awareness and celiac disease-specific diagnostic tests have aided the diagnosis of celiac disease. For instance, blood antibody testing has become a useful tool for screening suspected cases of celiac disease. These blood tests can be very sensitive in the detection of patients with severe intestinal damage, but invariably are negative in patients with mild lesions(1). Furthermore, some pathologists are not experienced in recognizing and detecting cases in which mild intestinal damage or even partial villous atrophy is present in biopsy samples. Yet, for these tests to be accurate a patient must be on a gluten-containing diet and doctors often put patients on an oral gluten challenge only after the patient has been on a gluten-free diet and/or their blood antibody tests prove negative. The oral gluten challenge requires a patient to ingest gluten at the direction of a specialist such as a gastroenterologist for testing purposes such as preparation for an endoscopic exam with biopsies of the small intestine, still considered the gold standard of diagnosis. The demands of the oral gluten challenge are time-consuming, can exacerbate or provoke symptoms, and intentionally put celiac patients at risk for further intestinal damage. As a patient, I was gluten-challenged because I had already instituted a gluten-free diet (despite negative blood antibody tests), three weeks before my appointment with the gastroenterologist. I suffered intense and severe symptoms that were provoked by the gluten challenges—not to mention the psychological impact posed by the challenges. At the direction of my gastroenterologist, I was instructed to "make complete damage" in a span of several days upon the first of three, short gluten challenges. At one point, I was ingesting gluten up to seven times in one day. After the close of the third gluten challenge, I felt chronically cold; it was difficult to walk without extreme fatigue and weakness; and I found it difficult to eat or drink due to intense, unrelenting stomach spasms. I had already lost ten percent of my weight before the gluten challenges but lost an additional seven percent after the gluten challenges. Furthermore, I began experiencing heart symptoms and suffered constant and severe joint pain in my extremities. The gluten challenges devastated my already compromised health and made my recovery more difficult and fraught with further complications. It has become clear that there is a need for methods of testing which do not expose patients to the health risks of an oral gluten challenge. Also, tests that offer more sensitive diagnostic value are needed for prompt and early diagnosis. Several research studies have evaluated the diagnostic potential of various methods without the requirement of an oral gluten challenge. Some of these studies examine the possibility of challenging intestinal biopsies with gluten outside the body in culture media (in vitro). Other studies have tested the immune response elicited by sites outside the small intestine. In vitro gluten challenge Today, anti-endomysial antibodies (EmAs) and anti-tissue transglutaminase antibodies (tTGs) are being used in the detection of celiac disease because of their sensitivity (detection of true CD-positive patients) and specificity (omission of non-celiac patients)(2). However, the blood antibody screening tests have not proven sensitive enough in the presence of mild intestinal damage or whereby only an increased intestinal lymphocyte (a type of white blood cell) count is present as a sign of the immune activation(1,3). Therefore, the production of EmA in cultured intestinal biopsies challenged with gliadin has been evaluated for its usefulness in celiac disease diagnosis. Carroccio et al found that EmA positivity of cultured biopsies challenged with gliadin for 48 hours correlated with the degree of intestinal damage, the shorter the treatment with a gluten-free diet (i.e., newly diagnosed celiac patients), and higher counts of inflammatory cells (i.e., white blood cells including lymphocytes) in the intestinal biopsies(2). A higher proportion of celiac patients with more severe intestinal lesions (95%) were EmA positive in their gliadin-challenged cultured biopsies as compared to celiac patients with mild intestinal damage (75%) who were EmA positive. However, this test still had higher sensitivity to detect 58% more celiac patients with mild intestinal damage than the blood EmA tests which were positive in only 17% of them. Furthermore, in newly diagnosed celiac patients, 90% of patients were EmA positive in their cultured biopsies before the addition of gliadin and 96% with the addition of gliadin. Finally, those patients who were EmA positive with the biopsy culture challenge with gliadin had significant higher numbers of inflammatory cells than those who were negative. Sixty-two percent of celiac patients on a gluten-free diet (GFD-treated) for 12 months, were EmA positive in biopsies challenged in culture with gliadin for 24 hours(4). EmA was not observed in any of their pre-challenge biopsies. However, EmA was detected in all of the cultured intestinal biopsy samples, challenged with gliadin after 72 hours. In addition, none of the control (non-celiac) patients had EmA detectable in their biopsies challenged in culture with or without gliadin. Local Challenge of Nasal Tissue and Oral Lining Other exciting prospects in the diagnosis of celiac disease are on the horizon which offer easy access to testing. For instance, other sites outside the intestine such as the nasal tissue and the oral lining are being studied for whether they can elicit a gliadin-specific immune response. In a study of GFD-treated celiac patients, gluten provoked a significant but only mild gliadin-specific inflammatory response in the nasal tissue scrapings (not biopsies) of the celiac patients via activation of lymphocyte cells but not in control patients(5). Another study involved the injection of gliadin into the oral lining of ten GFD-treated celiac patients who were negative for EmA(6). After a 24-hour gliadin challenge, oral biopsies were taken and the number of lymphocytes was significantly increased in celiac patients but not in the controls. Further evaluation of these methods, including studies of untreated patients, is needed to confirm their usefulness in the diagnosis of celiac disease. Rectal Gluten Challenge The rectum is an easily accessible site for which a gluten challenge can be performed and rectal biopsies taken7. The test does not require any patient preparation or the more invasive procedure of an endoscopic exam with biopsies. Also, no pre-challenge biopsies are required for comparison. The diagnostic power of the rectal gluten challenge is demonstrated by its ability to recognize gluten sensitive patients whose blood antibody tests are negative at presentation or whose biopsies are inconclusive(7). The four-hour rectal gluten challenge provided both 100 percent specificity and sensitivity in the diagnosis of gluten-sensitive patients in comparison with blood EmA which had only a 70% sensitivity and 98% specificity. In a group of 45 untreated patients, the rectal gluten challenge showed a significant increase in the numbers of lymphocytes responding to gluten whereas the non-celiac group of patients demonstrated a negative response in their lymphocyte populations. Furthermore, celiac patients on a GFD for two or more years still had more rectal lymphocytes than non-celiacs(8). Post rectal gluten challenge results of biopsy samples disclosed a significantly increased inflammatory infiltration of lymphocyte cells in celiacs but not in control patients. Inherently, the traditional oral gluten challenge is designed to cause intestinal damage to a celiac patient and may exacerbate or provoke symptoms, which may not be acceptable to the patient. The true cost of a diagnosis of celiac disease is the overt and acute as well as silent and chronic damage to the celiac patient caused by the undertaking of an oral gluten challenge. However, the future use of alternative diagnostic tests in practice offers the patient choices outside the risks and complications of oral gluten challenges. Since rectal gluten challenges, as well as the oral or nasal gluten challenges, must be taken internally, more studies must be done to evaluate the safety of using these potential methods of diagnosis. Some of these studies sought to find a more sensitive way to detect early events in the staging of celiac disease. Others also sought to find if the immune system could identify gliadin outside the gastrointestinal tract to make testing more accessible and easier on the patient. Both the sensitivity and specificity of methods such as EmA detection in cultured biopsies challenged with gliadin may one day change the way celiac disease is currently diagnosed, in the presence of more severe intestinal damage or villous atrophy. Instead, these alternative methods to oral gluten challenge have the potential to facilitate early diagnosis of celiac patients with inconclusive biopsies, those with only mild intestinal damage and negative blood antibody tests as well as high-risk patients such as relatives of celiac patients, and patients with associated autoimmune diseases. References: Tursi A, et al. 2003. The symptomatic and histologic response to a gluten-free diet in patients with borderline enteropathy. J Clin Gastroenterol 36: 13-17. Carroccio A, et al, 2002. Production of anti-endomysial antibodies in cultured duodenal mucosa: Usefulness in coeliac disease diagnosis, Scand J Gastroenterol 37: 32-38. Tursi A, et al. 2003. Prevalence of antitissue tranglutaminase antibodies in different degrees of intestinal damage in celiac disease. J Clin Gastroenterol 36: 219-21. Picarelli A, et al, 2001. Forty-eight hours of biopsy culture improve the sensitivity of the in vitro gliadin challenge in the diagnosis of celiac disease, Clin Chem 47: 1841- 1843. Torre P, et al, 2002. Immune response of the coeliac nasal mucosa to locally-instilled gliadin, Clin Exp Immunol 127: 513-518. Lahteenoja H, et al, 2000b. Local challenge on oral mucosa with an alpha-gliadin related synthetic peptide in patients with celiac disease, Amer Jour Gastroenterol 95: 2880-87. Ensari A, et al, 2001. Diagnosing coeliac disease by rectal gluten challenge: a prospective study based on immunopathology, computerized image analysis and logistic regression analysis, Clin Sci 101: 199-207. Troncone R, et al, 1996. In siblings of celiac children, rectal gluten challenge reveals gluten sensitization

Celiac.com 09/24/2022 - When an individual is diagnosed with celiac disease, every family member is affected. Suddenly, the diagnosing physician or the helpful support group informs the new celiac that first and second degree relatives must be regularly tested for celiac disease. They learn that it is necessary because celiac disease is a genetic condition and could appear at any time in other family members. Antibody vs. Genetic Testing The blood tests that celiacs are more familiar with are the antibody tests. These tests, such as the tissue transglutaminase test, or the antiendomysial antibody test, measure the immune response to gluten that occurs at a point in time (think of it as a photograph). These are important tests because they characterize the extent to which the immune system is responding to a specific antibody created in response to gluten. More celiacs and their families are learning about genetic testing, which is also a blood test. Unlike antibody testing, the HLA gene testing for celiac disease measures the presence or absence of genetic material that is found on the surface of cells. Celiac disease is associated with the presence of HLA DQ2 and HLA DQ8. Genetics of Celiac Disease When the genetic predisposition for celiac disease was detected (on Chromosome 6) researchers noted that the genes were a necessary but not sufficient condition for the disease to develop. In fact, up to one third of the U.S. population has the genes for celiac disease, but it is thought that only 1-4% will actually develop the disease at some point during their lifetimes. This means that people with DQ2 or DQ8 can develop celiac disease, but aren’t destined to develop it. This is most evident in the case of identical twins, where only one of the twins is affected by celiac disease. Despite the fact that the twins have identical genes, the unaffected twin only has a 70% chance of developing the condition. How can this happen? Researchers and medical professionals use the term “environment” to refer to lifestyle factors, diet, or medical history that affect an individual’s chances of developing a disease. It is thought that environmental factors such as the duration of breast feeding and the presence of other autoimmune disorders can impact the development of celiac disease. Environmental factors can have a protective effect or a promotional effect with regard to the development of a genetic disease. Medical Knowledge and Celiac Genetics At the International Celiac Conference in Paris last summer, numerous presentations were made by researchers looking at the role that of other genes that could modify, protect, or directly lead to the development of celiac disease. Most of them, however, failed to establish a direct connection between a gene and the disease process. Since the Paris conference, however, researchers have published work that looks at subsets of HLA DQ2 and HLA DQ8 and have determined that some combinations of these subsets lead to a greater or lesser risk of developing celiac disease (called gene dosing). In addition, it is thought that a certain genetic typing (within DQ2 and DQ8) can identify people who will develop celiac disease later in life. Gene Testing Considerations The gene test for celiac disease is a blood test that looks to measure HLA DQ2 and HLA DQ8 positivity on the surface of cells. It does not diagnose celiac disease. It places an individual into an “at-risk” group for celiac disease, which indicates the individual should be closely monitored with antibody testing in the future. Celiac centers across the United States have different approaches towards the use of genetic testing with patients and families concerned about celiac disease. Be sure to talk to your doctor about his/her perspective on genetic testing for celiac disease. Rule Out Celiac Disease Given that two-thirds of the U.S. population does not have DQ2 or DQ8, which are necessary for celiac disease to occur, the gene test can “rule out” with a very high degree of certainty that person’s potential for becoming celiac (95% of celiacs are DQ2 positive, 5% are DQ8 positive). In families where the potential celiacs are children, many parents feel that genetic testing offers them additional information—the ability to know which of their children to monitor more closely. On the Diet before Diagnosis In individuals with symptoms who have been on the gluten-free diet for a significant period of time, the gene test is often the only way to determine if symptoms could possibly be related to celiac disease. For a person who faces this situation, a negative gene test would indicate that symptoms are not likely to be celiac disease. A positive gene test, however, does not diagnose the disease but increases the likelihood that it is present. The Blame Game Genetic testing provides very useful information for clinicians and families facing celiac disease. However, family members may joke about or comment that testing will determine whose side of the family is at fault for the presence of celiac disease. Genetic testing of any kind affects everyone in the family (close and distant relatives). Interpersonal relationships and potential problems should at least be considered before testing. In considering the genetic test, families have to realistically assess what they will do with the information if and when members test positive. If the family is planning to have a gluten-free household anyway, genetic testing will not offer information that will change the health outcome of each family member. In this circumstance, the family is probably not a good candidate for genetic testing. The Cost of Genetic Testing Genetic testing can be very expensive, and this can vary by geography and the type of medical center where the testing is done. Costs include the cost of the actual test, the hospital laboratory fees, equipment/supplies, and processing. Ask your doctor’s office about the cost of the test before you have it done. In addition, you should take steps to insure that your insurance company will cover the test before the blood is drawn, unless you plan to pay for the test yourself.

Celiac.com 08/21/2020 - So who, exactly, should be screened for celiac disease? The guidelines and parameters for who and when to test for celiac disease change as new data becomes available. Based on recent study data, and recommendations by the three major celiac disease organizations, many doctors advise celiac screening for patients with any of the following twenty-two conditions or diseases: Anemia Unexplained iron, vitamin B12 or folate deficiency. A 2014 study showed that celiac disease is common in people with unexplained anemia. The study team recommends celiac screening for anyone with unexplained iron-deficient anemia, while the The U.K. National Institute for Health and Care Excellence recommend celiac screening for anyone with unexplained vitamin B-12 or folate deficiency. Aphthous stomatitis People with severe or persistent mouth ulcers (canker sores) should get screened for celiac disease. A 2020 study confirms that doctors should consider celiac disease in patients with severe or recurrent aphthous stomatitis. Autism People with autism have celiac disease at rates almost 20 times higher than in those without autism, reported lead investigator Daniel Karb, MD, a second-year resident at University Hospitals Case Medical Center in Cleveland. As such, many doctors now recommend celiac screening for people with autism. Autoimmune Thyroid Disease The The U.K. National Institute for Health and Care Excellence recommends celiac screening for anyone with thyroid disease. Dental Enamel Defects Certain types of dental enamel defects can be strong indicators of celiac disease. A 2018 study shows that non-specific tooth wear and enamel defects can be strong indications of celiac disease. Dermatitis Herpetiformis (DH) People with dermatitis herpetiformis, aka DH, or Duhring’s disease, suffer from a herpes-like rash. About 10% to 15% of people with celiac disease have DH. Anyone with DH should be checked for celiac disease. Most people with DH see major improvements on a gluten-free diet. Failure to Thrive and Persistent Diarrhea in Children The North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) and The American College of Gastroenterology recommends celiac screening for children with failure to thrive, especially with persistent diarrhea. Unexplained Fatigue Unexplained fatigue. People with persistent unexplained fatigue should consider screening for celiac disease, according to the U.K. National Institute for Health and Care Excellence. GERD Some studies show no link between Gastroesophageal Reflux Disease (GERD) and celiac disease. A 2015 study showed that celiac disease not a big factor in gastro-esophageal reflux disease. But a 2020 study showed that non-celiac gluten sensitivity is common in patients with refractory functional dyspepsia. Many doctors recommend celiac disease screening for patients with GERD. High Transaminase Levels High transaminase levels can be an indication of liver damage, heart damage, and are common in people with celiac disease. Down syndrome A 2020 study shows that people with Down syndrome have celiac disease at up to twenty times the rate of the general population. Celiac disease screening is important for anyone with Down syndrome. IgA Deficiency The North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition recommends testing for celiac disease in asymptomatic children who have conditions associated with celiac disease, including selective IgA deficiency. Irritable Bowel Syndrome in Adults Adults with irritable bowel syndrome should be screened for celiac disease, according to the The U.K. National Institute for Health and Care Excellence. Persistent Unexplained Elevated Liver Enzymes The U.K. National Institute for Health and Care Excellence recommends celiac screening for people with persistently elevated liver enzymes with unknown cause. Recurrent Miscarriages The U.K. National Institute for Health and Care Excellence recommends celiac screening for women who experience recurrent miscarriages. Immediate Relatives of Anyone with Celiac Disease First-degree relatives (mother, father, brother, sister, son, daughter) of anyone with celiac disease should get a celiac screen, according to Mayo Clinic. Short Stature A 2020 study shows that biopsy confirmed celiac disease affects about 1 in 14 patients with all‐cause short stature, and 1 in 9 patients with idiopathic short stature. Based on these results, doctors are recommending screening all patients with short stature should be screened for celiac disease. Thyroiditis Thyroiditis is an auto-immune condition associated with celiac disease. The North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) recommends celiac disease screening in children who have thyroiditis. Turner syndrome Turner syndrome is associated with celiac disease. The North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) recommends celiac disease screening in children who have Turner syndrome. celiac.comhttps://www.celiac.com/celiac-disease/who-should-get-screened-for-celiac-disease-r5201/ Type 1 diabetes More than 20% of people with Type 1 diabetes have celiac disease. The North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) recommends celiac disease screening in children who have Type 1 diabetes. Unexplained Infertility Women with infertility face higher rates of celiac disease. Many doctors do not screen for celiac disease in these women. However, for women experiencing unexplained infertility, especially repeatedly, a celiac disease screen is probably a good idea. Unexplained Neuropathy Patients with unexplained neuropathy, or small fiber neuropathy should be screened for celiac disease and gluten-sensitivity, according to researchers. Unexplained Weight Loss According to the U.K. National Institute for Health and Care Excellence, people who suffer from unexplained weight loss should be screened for celiac disease. Consider Celiac Screening for These Common Physical Complaints People with any of the ten most common complaints of celiac patients, or any of the below conditions that are associated with celiac disease, along with any obvious signs of celiac disease, including persistent diarrhea or stomach upset, should consider celiac screening. These include: Anemia Alternating bowel habit Bloating Constipation Cryptogenic hypertransaminasemia Diarrhea Gastroesophageal reflux disease Osteopenia/Osteoporosis Recurrent miscarriages Unexplained Infertility Other Conditions Associated with Celiac Disease The following conditions are not included in the official celiac screening recommendations by the above organizations. However, anyone with any of the following conditions, along with any obvious signs of celiac disease, including persistent diarrhea or stomach upset, should consider celiac screening. These include: Addisons Disease Alopecia Anxiety and Depression Ataxia Attention Deficit Disorder/ADHD Autism Autoimmune Hepatitis / Chronic Active Hepatitis Bird Fanciers Lung Brain White-Matter Lesions Cerebellar Atrophy Chronic Fatigue Syndrome (myalgic encephalomyelitis or ME, PVS, post viral fatigue syndrome or PVFS) Crohns Disease Congenital Heart Disease Cystic Fibrosis Dental-Enamel Hypoplasia Dyspepsia Epilepsy (with or without cerebral calcification) Farmers Lung Fibromyalgia and Celiac Disease Fibrosing Alveolitis Follicular Keratosis Gall Bladder Disease Gastroparesis Head Aches (Migraine) IBD - Irritable Bowel Disease Impotency Infertility Inflammatory Bowel Disease Lung Cavities Multiple Sclerosis and Celiac Disease Myasthenia Gravis Pancreatic Disorders / Exocrine Pancreatic Insufficiency Peripheral Neuropathy Polymyositis Polyneuropathy Primary Biliary Cirrhosis Pulmonary Hemosiderosis Recurrent Pericarditis Sarcoidosis Schizophrenia / Mental Problems and Celiac Disease Scleroderma Short Stature, Delayed Puberty Small-Intestinal Adenocarcinomas Spontaneous Abortion and Fetal Growth Retardation Systemic Lupus Erythematosus Thrombocytosis (Hyposplenism) Thrombocytopenic Purpura (ITP) Thyrotoxicosis Vasculitis Vitamin K Deficiency Celiac Disease Screening Recommendations by Organization The American College of Gastroenterology The North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) The U.K. National Institute for Health and Care Excellence

Celiac.com 06/20/2022 - Doctors currently recommend that first-degree relatives of those with celiac disease also get screened for the disease, but it's been unclear how often doctors should screen, or at what age. A team of researchers recently set out to detect variables influencing the risk of celiac disease development so they can develop and validate clinical prediction models in order to provide individualized screening advice. The research team included Caroline R. Meijer; Renata Auricchio; Hein Putter; Gemma Castillejo; Paula Crespo; Judit Gyimesi; Corina Hartman; Sanja Kolacek; Sibylle Koletzko; Ilma Korponay-Szabo; Eva Martinez Ojinaga; Isabel Polanco; Carmen Ribes-Koninckx; Raanan Shamir; Hania Szajewska; Riccardo Troncone; Vincenzo Villanacci; Katharina Werkstetter; and M. Luisa Mearin. The team analyzed ten years of follow-up data from the PreventCD-birth cohort, which enrolled nearly a thousand genetically predisposed children with celiac-affected first-degree relatives. The researchers combined significant variables for celiac risk to establish a risk score, and performed landmark analyses at different ages to create prediction models using multivariable Cox proportional hazards regression analyses, backward elimination, and Harrell’s c-index for discrimination. They used data from the independent NeoCel cohort to validate their findings. Their results show that the children with celiac-affected first-degree relatives develop celiac disease early in life, and that the main risk factors are gender, age and HLA-DQ genetic markers, which are all important for sound screening advice. According to the researchers children with celiac-affected first-degree relatives should be screened early in life, which should also include HLA-DQ2/8–typing. Anyone genetically predisposed to celiac disease should get more personalized screening advice using the team's Prediction application. Read more in Gastroenterology

Celiac.com 06/06/2022 - Researchers have shown that tissue-transglutaminase antibodies (TGA) can be used to diagnose celiac disease without biopsy, but there's no good data on how accurate it is in real life conditions. A team of researchers recently set out to investigate real-life performance of a Bioplex2200 automated celiac serology analyzer, and to explore the correlation between tissue-transglutaminase antibody levels and intestinal biopsies in children. The research team included Anat Guz-Mark; Michal Kori; Chani Topf-Olivestone; Ronit Weinberger; Sara Morgenstern; Nadya Ziv-Sokolovskaya; and Raanan Shamir. They are variously affiliated with the Institute of Gastroenterology, Nutrition and Liver Diseases, Schneider Children's Medical Center of Israel, Petach Tikva; the Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv; the Pediatric Gastroenterology, Kaplan Medical Center, Rehovot; the Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem; the Immunology Laboratory, Clalit Health Services, Tel Aviv; the Institute of Pathology, Rabin Medical Center, Pitach-Tikva; and the Institute of Pathology, Kaplan Medical Center, Rehovot, Israel. The team conducted a retrospective review in two pediatric gastroenterological centers, between November 1, 2018 and April 1, 2020. They included patients with both tissue-transglutaminase antibody serology testing and duodenal biopsies. They gathered data including patient demographics, medical background, TGA levels, and biopsy results. In all, the team looked at 538 children. They found 256 with positive tissue-transglutaminase antibodies, and 282 with negative tissue-transglutaminase antibodies. Among patients with positive tissue-transglutaminase antibodies, intestinal biopsies confirmed celiac disease in 219, or nearly 86% of cases. The team found positive serology with normal histology in about fifteen percent of the cases. In more than half, they found tissue-transglutaminase antibody ranges of 1 to 3 times upper limit of normal. About twenty percent had tissue-transglutaminase antibody ranges 3 to 5 times upper limit of normal; about twenty percent had tissue-transglutaminase antibody ranges 5 to 10 times upper limit of normal; and just over 4% had tissue-transglutaminase antibody ranges above 10 times upper limit of normal, respectively. Nearly eighty-five percent of patients with positive tissue-transglutaminase antibodies also had positive anti-endomysial antibodies. However, overall diagnostic performance in these patients was inferior. The team found that the Multiplex tissue-transglutaminase antibody assay accurately diagnosed celiac disease in real world conditions. EMA screening did not improve the diagnostic accuracy in patients with positive tissue-transglutaminase antibodies. Meanwhile, false-positives varied depending on tissue-transglutaminase antibody range, but were low in patients with tissue-transglutaminase antibody levels above 10 times upper limit of normal. The ability to use multiplex tissue-transglutaminase antibodies for accurate celiac diagnosis offers clinicians another cheap and easy tool for catching celiac disease early. The easier and cheaper it becomes to diagnose celiac disease, and the earlier it can be caught, the more long term damage can be avoided for celiac sufferers. Read more in the Journal of Pediatric Gastroenterology and Nutrition

Celiac.com 05/18/2022 - Idiopathic pulmonary hemosiderosis causes diffuse alveolar hemorrhage, but the mechanics of the cause remains unknown. Alveolar hemorrhage is a "life-threatening disorder characterized clinically by the presence of hemoptysis, falling hematocrit, diffuse pulmonary infiltrates and hypoxemic respiratory failure. Diffuse alveolar hemorrhage should be considered a medical emergency due to the morbidity and mortality associated with failure to treat the disorder promptly." The occurrence of idiopathic pulmonary hemosiderosis and celiac disease together has been noted in both children and adults, and is also known as Lane-Hamilton syndrome. A team of researchers recently set out to compare demographics, clinical and radiologic findings, treatment, and outcomes between adult patients with idiopathic pulmonary hemosiderosis and Lane-Hamilton syndrome. The research team included Biplab K. Saha, Praveen Datar, Alexis Aiman, Alyssa Bonnier, Santu Saha, and Nils T. Milman. They are variously affiliated with the Department of Clinical Biochemistry, University College Zealand in Næstved, Denmark; the department of Internal Medicine, New York Institute of Technology College of Osteopathic Medicine at Arkansas State University in Jonesboro, USA; the Pulmonary and Critical Care Medicine, Ozarks Medical Center · West Plains, USA; the center for Critical Care, Goldfarb School of Nursing at Barnes Jewish College · Saint Louis, USA; and the Internal Medicine, Saha Clinic in Narail, Bangladesh. For their systematic review of the literature, the team used proper search parameters to identify relevant articles in multiple databases. Their final review included a total of 60 studies reporting 65 patients. Forty-nine of these patients had idiopathic pulmonary hemosiderosis, while 16 had Lane-Hamilton syndrome. Thirteen of twenty-two patients screened, nearly sixty percent, were positive for anti-celiac antibodies. Patients with Lane-Hamilton syndrome showed earlier symptom onset and diagnosis of idiopathic pulmonary hemosiderosis, though both groups showed an average delay in diagnosis of about one year. Lane-Hamilton syndrome patients were most likely to show the classic symptom triad, although only one in five patients in the Lane-Hamilton syndrome group showed any significant gastrointestinal symptoms at the time of idiopathic pulmonary hemosiderosis diagnosis. A gluten-free diet alone was effective in the majority of patients. Fewer patients in the Lane-Hamilton syndrome cohort received systemic corticosteroid than the idiopathic pulmonary hemosiderosis cohort. The recurrence and mortality in patients with Lane-Hamilton syndrome appear to be less than in the idiopathic pulmonary hemosiderosis cohort. The results show that one in four adult patients with idiopathic pulmonary hemosiderosis has celiac disease. Patients with Lane-Hamilton syndrome may show milder effects than patients without celiac disease. Based on these results, the researchers are recommending that all idiopathic pulmonary hemosiderosis patients receive serologic screening for celiac disease. Read more at Cureus.com 14(3): e23482

Celiac.com 12/15/2021 - The journey from symptoms to questions, to the search for a proper celiac disease diagnosis can be long, confusing, and frustrating. For many people with celiac disease, the pre-diagnosis phase is the most challenging part of the journey. A glance at our popular online forum shows that questions about pre-diagnosis, testing and symptoms of celiac disease abound among celiac sufferers. To help make the journey a bit easier, we've put together this list of helpful things to know about per-diagnosis and testing for celiac disease. Celiac Disease Pre-Diagnosis & Testing Celiac Symptoms We'll start first with symptoms, because, for most patients, celiac symptoms are often what get the ball rolling toward testing and diagnosis. Classic celiac-associated gastrointestinal symptoms include malnutrition, diarrhea, abdominal pain, and bloating, weight-loss, or low body weight, among others. Interestingly, most people with celiac disease show no symptoms, but are diagnosed on the basis of referral for elevated risk factors. For people who do show symptoms, it is increasingly common to find atypical symptoms, such as being overweight, especially in children. In fact, most children with celiac disease now show atypical symptoms. An absence of symptoms, or the presence of atypical symptoms can make diagnosing celiac disease even more difficult, as patients often need a referral from a physician, who may have trouble justifying one if she can't point to clear symptoms. To make matters worse, celiac disease is often confused with numerous other diseases, which can cause delayed diagnosis, or even misdiagnosis. Celiac Disease Pre-Diagnosis When people talk about "pre-diagnosis" of celiac disease, they are usually talking about the testing phase. Usually, a person will have symptoms of one sort or another that will lead them to a physician, who will then request testing for celiac disease antibodies. In some cases, confirmation by biopsy is still the go-to procedure for officially confirming celiac disease, however, in Europe they are now diagnosing celiac disease via a blood test only when it detects a 10-fold increase in IgA antitissue transglutaminase (tTG) antibody levels above the reference range, in combination with EMA positivity, without the need for a duodenal biopsy. So in many cases, celiac disease can now be diagnosed by blood test alone, without the need for a follow-up biopsy, especially in children, first-degree family relatives, and even in many adults. Celiac Disease Blood Antibody Testing Traditionally, doctors will order a test to measure blood levels of anti-transglutaminase antibodies, or tTG2, which are higher in people with celiac disease. tTG2 proteins are among the proteins that trigger the immune reaction the causes inflammation when celiac eat wheat, rye, or barley. Celiacs have hundreds times more tTG proteins than non-celiacs. Testing begins with a test called Immunoglobulin A (IgA). If the results are normal, then a Tissue transglutaminase, antibody, IgA test is given. A weak positive should lead to the following tests: Endomysial antibodies (IgA) and; Gliadin (deamidated) antibody, IgA. If the initial Immunoglobulin A (IgA) test is low, then these two tests should be done: Tissue transglutaminase antibodies, IgA and IgG profle. Gliadin (deamidated) antibodies evaluation, IgG and IgA. If the initial Immunoglobulin A (IgA) test is deficient then these two tests should be done: Tissue transglutaminase (tTG) antibody, IgG. Gliadin (deamidated) antibody, IgG. In fact, trials show the tTG blood test to be 95 percent sensitive (meaning it detects celiac disease 95 times out of 100), and 95 percent specific (meaning it gives a false positive result just 5 times out of 100). A Possible Future for Celiac Blood Tests One Blood Test Can Now Diagnose Celiac Disease without Biopsy New Screening Method Offers Faster and Easier Detection of Celiac Antibodies FDA Approves New Test for Celiac Disease A New York startup company, Aesku NY, has received FDA approval for tests to detect celiac disease. Patients who screen positive would require further testing for a specific diagnosis. However, the tests are designed to be cost effective, and efficient, potentially increasing the availability of a reliable screening method for diseases that are best caught and treated early. Blood Test Results Normally the results you get will be either negative, weak positive, or positive. Any positive blood test, even if others are negative, could indicate celiac disease. Read more about the Interpretation of Celiac Disease Blood Test Results Confirmation In some cases, biopsy is still the go-to procedure for officially confirming celiac disease. This is the case even in Europe when tTG levels are below 10x the reference range for celiac disease. There is some research to indicate that children, on average, may have less villi damage than adults, which is why blood test results are so important. Genetic Testing Genetic tests for celiac disease and gluten sensitivity are readily available. Testing can be performed on either blood or mouth swab samples. Tests can be done at home and mailed to the lab for analysis. A good testing laboratory will provide an accurate prediction of celiac disease risk, and will also provide information about the statistical risk to your children, your likelihood of developing more severe celiac disease, whether one or both of your parents had the risk gene, and for some laboratories, you may determine your risk of gluten sensitivity without celiac disease. Get the Facts About Celiac Disease Genetic Testing Genetic Test Results No DQ2 & DQ8 Can Still Mean Non-Celiac Gluten Sensitivity (NCGS) Data collected by Dr. Ken Fine of Enterolab supports the fact that the absence of DQ2 and DQ8 does not exclude the risk of gluten intolerance or gluten sensitivity, though it now looks likely that one or both of those genetic white blood cell patterns are required for celiac disease to develop. DQ Type Can Influence Celiac Risk and Severity Both the DQ type, and number of copies you have, help to determine the risk, and also the potential severity of celiac disease. Two copies of DQ2 carries more risk than one copy of DQ8 or only partial DQ2. Even a single copy of DQ2 alpha subunit ("half DQ2 positive") carries risk for celiac disease, but most of the commonly used laboratories for Celiac genetics do not test for or report the presence of this component of the celiac genes. The odds of developing celiac disease based on HLA-DQA/DQB genotypes is as follows: DQ2+DQ8 1:7 (14.3%) DQ2+DQ2 OR DQ2 Homozygous DQB1*02 1:10 (10%) DQ8+DQ8 1:12 (8.42%) DQ8+DQ8*02 1:24 (4.2%) Homozygous DQB1*02 1:26 (3.8%) DQ2 only 1:35 (2.9%) DQ8 only 1:89 (1.1%) General Population - Genotypes unknown 1:100 (1%) ½ DQ2*DQB1*02 1:210 (0.5%) ½ DQ2*DQA1*05 1:842 (0.05%) No HLA-DQA/DQB susceptible alleles 1:2518 (0.04%) Testing for celiac disease should be done using FDA-approved HLA test kits. HLA-DQA/DQB genotyping typically provides detection of DQ2 (DQA1*0501, DQA1*0505, and DQB1*0201/*0202) and DQ8 (DQB1*0302) For example: HLA-DQ2(DQA1*05/DQB1*02) Positive or Negative HLA-DQ8(DQA1*03/DQB1*0302) Positive or Negative Conclusion For anyone in the pre-diagnosis phase of suspected celiac disease, the keys to effective screening and diagnosis lie in testing and diagnosis, with or without biopsy. If you have questions about specific issues, be sure to check into our celiac disease forum.

Celiac.com 02/08/2022 - The numerous connections between celiac disease and diabetes have led many clinicians to screen diabetes patients for celiac disease, and vice versa. The case of a five year-old girl's recent celiac diagnosis during a diabetes study further highlights that connection. Shane and Staci Vogel, an Iowa couple with a family history of diabetes, enrolled their daughter Kemper, 5, and son Knox, 2, in Sanford Health's PLEDGE study, a large-scale screening of children under age 6 for type 1 diabetes and celiac disease. Fortunately, the study found no sign of diabetes in either child, but the process did lead to a celiac diagnosis for Kemper. Kemper didn't have any clear symptoms of celiac disease at the time of her diagnosis, the family quickly moved to rid their home of gluten ingredients, and get her on a gluten-free diet. Begun a year ago, with the modest goal of using a few clinics to test 1,000 children for diabetes and celiac disease, the PLEDGE project screened more than 2,000 children in its first year, study researcher Dr. Kurt Griffin told reporters. The PLEDGE study has grown from just a few clinics to over forty-two, Griffin said, including all of Sanford Health clinics in Sioux Falls, among others. According to Sanford's website, the study is now enrolling children under 6-years old, provided they are currently receiving annual checkups at Sanford Health, and are not diagnosed with type 1 diabetes. Sanford is offering the study at no cost to families. To learn more about the PLEDGE study and whether your child qualifies, call (877) 878-4825. Read more in the Sioux Falls Argus Leader

Celiac.com 02/02/2022 - A team of researchers performed a prior population-based mass screening of celiac disease in children aged 12 years in two birth groups, yielding nearly 300 seropositive cases, of which nearly 250 were diagnosed with celiac disease after duodenal biopsy. In a follow-up study, the research team recently set out to spot new cases in the screening population that originally tested negative. The team included patients who were seronegative at screening and later converted to diagnosed celiac disease, or patients who had potential celiac disease, that is, positive blood screen, but normal duodenal mucosa, and later converted to celiac disease. The research team included Olof Sandström, Fredrik Norström, Annelie Carlsson, Lotta Högberg, Maria van der Palz, Lars Stenhammar, Charlotta Webb, Anneli Ivarsson, and Anna Myléus. They are variously affiliated with the Department of Clinical Sciences, Paediatrics, Umea University, Umea, Sweden; the Department of Epidemiology and Global Health, Umea University, Umea, Sweden; the Department of Clinical Sciences, Paediatrics, Lund University, Lund, Sweden; the Department of Clinical and Experimental Medicine, Paediatrics, Linköping University, Linkoping, Östergötland, Sweden; and the Department of Public Health and Clinical Medicine, Family Medicine, Umea University, Umea, Sweden. For their follow-up study, the team invited all children who tested seropositive to screen again, five years after the initial screen, including further serological testing, and biopsy for seropositive patients. The team used the National Swedish Childhood Coeliac Disease Register to find cases diagnosed in healthcare during the same period. In all, they assessed 12,353 seronegative children Out of 230 children who kept the follow-up appointment, including 34 of 39 with potential celiac disease, eleven children had converted to celiac disease. They found one new case in the register who was diagnosed via routine screening for type 1 diabetes. The team's five-year follow-up study shows that patients with potential celiac disease and positive celiac blood screens face a higher risk of developing celiac disease, while those with negative screens do not. Conversely, those with a negative screen enjoyed a very low risk for a clinical diagnosis over the following five years. Read more in the Archives of Disease in Childhood

Celiac.com 01/19/2022 - A number of researchers have encouraged screening children with celiac disease for vitamin D status, but, so far, studies to support these recommendations have not been definitive. A team of researchers recently set out to assess the vitamin D status in newly diagnosed children with celiac disease and in a non-celiac disease control population and relate them to vitamin D intake. The research team included Rajni Ahlawat; Toba Weinstein; James Markowitz; Nina Kohn; and Michael J. Pettei. They are variously affiliated with the Division of Pediatric Gastroenterology, Hepatology & Nutrition, Steven and Alexandra Cohen Children's Medical Center; and the Department of Biostatistics, Feinstein Institute for Medical Research, NY. For their study, they team assessed levels of serum 25-hydroxyvitamin D (25-OHD) in children with newly diagnosed celiac disease, and compared them against non-celiac children seen for functional abdominal complaints. The team calculated vitamin D intake based on milk and multivitamin ingestion. The researchers studied nearly forty newly diagnosed celiac disease patients ranging from about eight to thirteen years old, and evenly divided between girls and boys, along with just over eighty control subjects. Except for average daily D intake and BMI, both groups were similar. There was no meaningful difference in average 25-OHD levels between celiac disease patients and control subjects. Nearly seventy percent of celiacs and eighty percent of control subjects showed high percentages of suboptimal D status. 25-OHD levels reflected patient age, and estimated vitamin D intake. The data showed no significant difference in 25-OHD levels between newly diagnosed celiac disease and control subjects, with both groups showing inadequate 25-OHD levels. Patient 25-OHD levels correlated strongly with vitamin D intake, indicating similar vitamin D absorption between patients and control subjects. Because celiac disease is associated with low vitamin D levels and with bone disease, the researchers suggest that doctors should work with patients to maintain optimal levels of vitamin D, including screening vitamin D levels upon diagnosis for celiac disease. Read more in the Journal of Pediatric Gastroenterology and Nutrition, October 2019, Volume 69 - Issue 4 - p 449-454