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Celiac.com 02/17/2025 - Celiac disease, a chronic autoimmune disorder triggered by gluten, has traditionally been diagnosed through intestinal biopsies. However, new approaches aim to simplify this process, especially for children, by relying more on blood tests to confirm the diagnosis. This study examines whether a repeated blood test for a specific antibody can replace a second, more complex confirmatory test, making the diagnostic process easier and less invasive for children. The Current Diagnostic Process Under the no-biopsy approach introduced by European guidelines in 2012, children with a suspected diagnosis of celiac disease can forgo an intestinal biopsy if they meet certain criteria. These include having very high levels of immunoglobulin A anti-tissue transglutaminase-2 antibodies in their blood, confirmed by a second test for anti-endomysial antibodies. While this method reduces the need for biopsies, it still requires two separate tests, which can be time-consuming and stressful for families. Purpose of the Study The researchers wanted to determine if the second test, which detects anti-endomysial antibodies, is truly necessary. They investigated whether repeating the initial test for anti-tissue transglutaminase antibodies could be just as effective in confirming the diagnosis. By eliminating the need for the second test, the diagnostic process could become simpler and more accessible. Methodology The study analyzed data from 933 children who were suspected of having celiac disease based on their initial blood test results. Each child’s first test showed antibody levels more than 10 times the upper limit of normal, which is considered a strong indicator of celiac disease. A second confirmatory test for anti-endomysial antibodies was performed within two months of the first test. The researchers compared the results of the two tests to assess their alignment and reliability. Key Findings High Agreement Between Tests: All children in the study who had high levels of anti-tissue transglutaminase antibodies also tested positive for anti-endomysial antibodies in the confirmatory test. Consistency Across Samples: Almost all confirmatory tests showed very high levels of anti-endomysial antibodies, further supporting the initial test results. Potential for Simplification: Given the high level of agreement, the study suggests that repeating the initial anti-tissue transglutaminase test could replace the anti-endomysial antibody test as the confirmatory step. Implications for Diagnosis The study’s findings have significant implications for the diagnosis of celiac disease in children. By relying on repeated testing of anti-tissue transglutaminase antibodies, healthcare providers can streamline the diagnostic process, reduce costs, and eliminate the need for more complex tests. This approach is especially beneficial for families seeking a faster and less invasive confirmation of the diagnosis. Meaning for Families and Children with Celiac Disease For families navigating the challenges of a celiac disease diagnosis, this study provides a pathway to quicker and more straightforward answers. Reducing the need for biopsies and multiple tests not only minimizes the physical burden on children but also alleviates emotional stress for parents. Early and accurate diagnosis enables children to start a gluten-free diet sooner, preventing further complications and improving their quality of life. Conclusion This research highlights the potential to simplify the diagnostic process for celiac disease by replacing the second confirmatory test with a repeat of the initial antibody test. By doing so, healthcare providers can maintain diagnostic accuracy while making the process more accessible and less invasive for children and their families. For those living with celiac disease, this advancement represents a meaningful step toward easier, faster diagnoses and improved management of the condition. Read more at: pubmed.ncbi.nlm.nih.gov Watch the video version of this article:

Celiac.com 03/05/2019 - Doctors commonly suggest celiac screening for anyone with a family history of celiac disease, or of disorders such as thyroid disease, anemia of unknown cause, type I diabetes or other immune disorders or Downs syndrome. Otherwise, patients are generally screened on a case by case basis according to individual symptoms. Blood Testing - Antibodies Point to Celiac Disease Screening for celiac disease usually begins with a blood test. People with celiac disease have abnormally high levels of associated antibodies, including one or more of the following: anti-gliadin, anti-endomysium and anti-tissue transglutaminase, and damage to the villi (shortening and villous flattening) in the lamina propria and crypt regions of their intestines when they eat specific food-grain antigens (toxic amino acid sequences) that are found in wheat, rye, and barley. Antibodies are the specialized proteins the immune system uses to break down and eliminate foreign substances from the body. In people with celiac disease, the immune system treats gluten as a foreign invader and produces elevated levels of antibodies to get rid of it, causing symptoms and associated discomfort. Testing for Celiac Antibodies A blood test, such as anti-tissue transglutaminase and anti-endomysial antibodies, can detect abnormally high antibody levels, and is often used in the initial detection of celiac in people who are most likely to have the disease, and for those who may need further evaluation. Since the immune system of a person with celiac treats gluten as a foreign substance and increases the number of antibodies, elevated levels of these antibodies are a sign of celiac disease. Genetic Testing Celiac disease is influenced, but not determined, by genetics. That means that susceptibility to celiac disease can be inherited, but the disease itself is not inherited. At least two genes, HLA-DQ2, HLA-DQ8, play a major role in celiac disease susceptibility. About 95% of people with celiac disease have the HLA-DQ2 gene and most of the remaining 5% have the HLA-DQ8 gene. A number of genetic testing services can tell you whether you have these genes. Some will test specifically for celiac genetics, others will test for celiac genetics as part of a general test. Genetic testing can help to indicate whether you might have a greater risk for celiac disease. Clinical Celiac Testing Typically, initial blood screening for celiac disease is done at a doctor’s office or at a clinic. Typically, such tests are ordered by a physician for patients who show symptoms, and/or a family history of celiac disease. If the results are positive, doctors will usually seek to confirm the diagnosis with a biopsy. Home Test Kits for Celiac Disease In the last several years, a number of accurate, reliable home test kits for celiac disease have come onto the market. Some of these kits deliver quick results in the home, while others require the consumer to mail the sample to a lab and receive the results later. Some mail-in kits use the same tests and labs as clinics do. Home test kits can offer convenience, confidentiality, and savings to consumers. They can also provide confidence for people, with or without symptoms, who believe they may have celiac disease. It’s not a good idea to use home test kits to diagnose celiac disease. As with clinical test results, positive results from home test kits should be confirmed by a doctor, and proper diagnosis and care should be initiated. Confirming Celiac Diagnosis To confirm a diagnosis of celiac disease, your doctor will likely want to do a biopsy. That’s where they visually examine a the small intestine to check for celiac-related damage. To do this, your doctor inserts an endoscope, a thin flexible tube, through your mouth, esophagus and stomach into your small intestine. The doctor then takes a sample of intestinal tissue to look for damage to the villi, the tiny, hair-like projections in the walls of the small intestine that absorb vitamins, minerals and other nutrients. If the biopsy shows celiac-associated damage, the doctor will confirm the diagnosis and encourage you to adopt a gluten-free diet.

WHAT IS CELIAC DISEASE? Celiac disease is an autoimmune condition that affects around 1.4% of the population (91.2 million people worldwide, and 3.9 million in the U.S.A.). People with celiac disease suffer an autoimmune reaction when they consume wheat, rye or barley. The immune reaction is triggered by certain proteins in the wheat, rye, or barley, and, left untreated, causes damage to the small, finger-like structures, called villi, that line the gut. The damage occurs as shortening and villous flattening in the lamina propria and crypt regions of the intestines. The damage to these villi then leads to numerous other issues that commonly plague people with untreated celiac disease, including poor nutritional uptake, fatigue, and myriad other problems. Celiac disease mostly affects people of Northern European descent, but recent studies show that it also affects large numbers of people in Italy, China, Iran, India, and numerous other places thought to have few or no cases. Celiac disease is most often uncovered because people experience symptoms that lead them to get tests for antibodies to gluten. If these tests are positive, then the people usually get biopsy confirmation of their celiac disease. Once they adopt a gluten-free diet, they usually see gut healing, and major improvements in their symptoms. CLASSIC CELIAC DISEASE SYMPTOMS Symptoms of celiac disease can range from the classic features, such as diarrhea, upset stomach, bloating, gas, weight loss, and malnutrition, among others. LESS OBVIOUS SYMPTOMS Celiac disease can often less obvious symptoms, such fatigue, vitamin and nutrient deficiencies, anemia, to name a few. Often, these symptoms are regarded as less obvious because they are not gastrointestinal in nature. You got that right, it is not uncommon for people with celiac disease to have few or no gastrointestinal symptoms. That makes spotting and connecting these seemingly unrelated and unclear celiac symptoms so important. NO SYMPTOMS Currently, most people diagnosed with celiac disease do not show symptoms, but are diagnosed on the basis of referral for elevated risk factors. CELIAC DISEASE VS. GLUTEN INTOLERANCE Gluten intolerance is a generic term for people who have some sort of sensitivity to gluten. These people may or may not have celiac disease. Researchers generally agree that there is a condition called non-celiac gluten sensitivity. That term has largely replaced the term gluten-intolerance. What’s the difference between celiac disease and non-celiac gluten-sensitivity? CELIAC DISEASE VS. NON-CELIAC GLUTEN SENSITIVITY (NCGS) Gluten triggers symptoms and immune reactions in people with celiac disease. Gluten can also trigger symptoms in some people with NCGS, but the similarities largely end there. There are four main differences between celiac disease and non-celiac gluten sensitivity: No Hereditary Link in NCGS Researchers know for certain that genetic heredity plays a major role in celiac disease. If a first-degree relative has celiac disease, then you have a statistically higher risk of carrying genetic markers DQ2 and/or DQ8, and of developing celiac disease yourself. NCGS is not known to be hereditary. Some research has shown certain genetic associations, such as some NCGS patients, but there is no proof that NCGS is hereditary. No Connection with Celiac-related Disorders Unlike celiac disease, NCGS is so far not associated with malabsorption, nutritional deficiencies, or a higher risk of autoimmune disorders or intestinal malignancies. No Immunological or Serological Markers People with celiac disease nearly always test positive for antibodies to gluten proteins. Researchers have, as yet, identified no such antobodies or serologic markers for NCGS. That means that, unlike with celiac disease, there are no telltale screening tests that can point to NCGS. Absence of Celiac Disease or Wheat Allergy Doctors diagnose NCGS only by excluding both celiac disease, an IgE-mediated allergy to wheat, and by the noting ongoing adverse symptoms associated with gluten consumption. WHAT ABOUT IRRITABLE BOWEL SYNDROME (IBS) AND IRRITABLE BOWEL DISEASE (IBD)? IBS and IBD are usually diagnosed in part by ruling out celiac disease. Many patients with irritable bowel syndrome are sensitive to gluten. Many experience celiac disease-like symptoms in reaction to wheat. However, patients with IBS generally show no gut damage, and do not test positive for antibodies to gliadin and other proteins as do people with celiac disease. Some IBS patients also suffer from NCGS. To add more confusion, many cases of IBS are, in fact, celiac disease in disguise. That said, people with IBS generally react to more than just wheat. People with NCGS generally react to wheat and not to other things, but that’s not always the case. Doctors generally try to rule out celiac disease before making a diagnosis of IBS or NCGS. Crohn’s Disease and celiac disease share many common symptoms, though causes are different. In Crohn’s disease, the immune system can cause disruption anywhere along the gastrointestinal tract, and a diagnosis of Crohn’s disease typically requires more diagnostic testing than does a celiac diagnosis. Crohn’s treatment consists of changes to diet and possible surgery. Up to 10% of Crohn's patients can have both of conditions, which suggests a genetic connection, and researchers continue to examine that connection. Is There a Connection Between Celiac Disease, Non-Celiac Gluten Sensitivity and Irritable Bowel Syndrome? Large Number of Irritable Bowel Syndrome Patients Sensitive To Gluten Some IBD Patients also Suffer from Non-Celiac Gluten Sensitivity Many Cases of IBS and Fibromyalgia Actually Celiac Disease in Disguise CELIAC DISEASE DIAGNOSIS Diagnosis of celiac disease can be difficult. Perhaps because celiac disease presents clinically in such a variety of ways, proper diagnosis often takes years. A positive serological test for antibodies against tissue transglutaminase is considered a very strong diagnostic indicator, and a duodenal biopsy revealing villous atrophy is still considered by many to be the diagnostic gold standard. But this idea is being questioned; some think the biopsy is unnecessary in the face of clear serological tests and obvious symptoms. Also, researchers are developing accurate and reliable ways to test for celiac disease even when patients are already avoiding wheat. In the past, patients needed to be consuming wheat to get an accurate test result. Celiac disease can have numerous vague, or confusing symptoms that can make diagnosis difficult. Celiac disease is commonly misdiagnosed by doctors. Read a Personal Story About Celiac Disease Diagnosis from the Founder of Celiac.com Currently, testing and biopsy still form the cornerstone of celiac diagnosis. TESTING There are several serologic (blood) tests available that screen for celiac disease antibodies, but the most commonly used is called a tTG-IgA test. If blood test results suggest celiac disease, your physician will recommend a biopsy of your small intestine to confirm the diagnosis. Testing is fairly simple and involves screening the patients blood for antigliadin (AGA) and endomysium antibodies (EmA), and/or doing a biopsy on the areas of the intestines mentioned above, which is still the standard for a formal diagnosis. Also, it is now possible to test people for celiac disease without making them concume wheat products. BIOPSY Until recently, biopsy confirmation of a positive gluten antibody test was the gold standard for celiac diagnosis. It still is, but things are changing fairly quickly. Children can now be accurately diagnosed for celiac disease without biopsy. Diagnosis based on level of TGA-IgA 10-fold or more the ULN, a positive result from the EMA tests in a second blood sample, and the presence of at least 1 symptom could avoid risks and costs of endoscopy for more than half the children with celiac disease worldwide. WHY A GLUTEN-FREE DIET? Currently the only effective, medically approved treatment for celiac disease is a strict gluten-free diet. Following a gluten-free diet relieves symptoms, promotes gut healing, and prevents nearly all celiac-related complications. A gluten-free diet means avoiding all products that contain wheat, rye and barley, or any of their derivatives. This is a difficult task as there are many hidden sources of gluten found in the ingredients of many processed foods. Still, with effort, most people with celiac disease manage to make the transition. The vast majority of celiac disease patients who follow a gluten-free diet see symptom relief and experience gut healing within two years. For these reasons, a gluten-free diet remains the only effective, medically proven treatment for celiac disease. WHAT ABOUT ENZYMES, VACCINES, ETC.? There is currently no enzyme or vaccine that can replace a gluten-free diet for people with celiac disease. There are enzyme supplements currently available, such as AN-PEP, Latiglutetenase, GluteGuard, and KumaMax, which may help to mitigate accidental gluten ingestion by celiacs. KumaMax, has been shown to survive the stomach, and to break down gluten in the small intestine. Latiglutenase, formerly known as ALV003, is an enzyme therapy designed to be taken with meals. GluteGuard has been shown to significantly protect celiac patients from the serious symptoms they would normally experience after gluten ingestion. There are other enzymes, including those based on papaya enzymes. Additionally, there are many celiac disease drugs, enzymes, and therapies in various stages of development by pharmaceutical companies, including at least one vaccine that has received financial backing. At some point in the not too distant future there will likely be new treatments available for those who seek an alternative to a lifelong gluten-free diet. For now though, there are no products on the market that can take the place of a gluten-free diet. Any enzyme or other treatment for celiac disease is intended to be used in conjunction with a gluten-free diet, not as a replacement. ASSOCIATED DISEASES The most common disorders associated with celiac disease are thyroid disease and Type 1 Diabetes, however, celiac disease is associated with many other conditions, including but not limited to the following autoimmune conditions: Type 1 Diabetes Mellitus: 2.4-16.4% Multiple Sclerosis (MS): 11% Hashimoto’s thyroiditis: 4-6% Autoimmune hepatitis: 6-15% Addison disease: 6% Arthritis: 1.5-7.5% Sjögren’s syndrome: 2-15% Idiopathic dilated cardiomyopathy: 5.7% IgA Nephropathy (Berger’s Disease): 3.6% Other celiac co-morditities include: Crohn’s Disease; Inflammatory Bowel Disease Chronic Pancreatitis Down Syndrome Irritable Bowel Syndrome (IBS) Lupus Multiple Sclerosis Primary Biliary Cirrhosis Primary Sclerosing Cholangitis Psoriasis Rheumatoid Arthritis Scleroderma Turner Syndrome Ulcerative Colitis; Inflammatory Bowel Disease Williams Syndrome Cancers: Non-Hodgkin lymphoma (intestinal and extra-intestinal, T- and B-cell types) Small intestinal adenocarcinoma Esophageal carcinoma Papillary thyroid cancer Melanoma CELIAC DISEASE REFERENCES: Global Prevalence of Celiac Disease: Systematic Review and Meta-analysis. Clinical Gastroenterology and Hepatology 2018;16:823–836 Celiac Disease Center, Columbia University Gluten Intolerance Group National Institutes of Health U.S. National Library of Medicine Mayo Clinic University of Chicago Celiac Disease Center