Celiac.com 06/08/2024 - Gastrointestinal disorders, such as gastroesophageal reflux disease (GERD), inflammatory bowel disease (IBD), gastritis, peptic ulcer disease (PUD), and celiac disease, significantly affect individuals globally, influencing both health and economic stability. This comprehensive summary explores these conditions, focusing on their impact, underlying mechanisms, and current management strategies, with a particular emphasis on celiac disease.

Understanding Gastrointestinal Disorders

GERD involves the frequent backflow of stomach acids into the esophagus due to a malfunctioning lower esophageal sphincter (LES). This results in symptoms like heartburn and regurgitation, and can lead to complications such as erosive esophagitis and Barrett’s esophagus. Diagnosis often includes endoscopy and pH monitoring, while treatment involves lifestyle modifications and medications like proton pump inhibitors (PPIs).

IBD encompasses Crohn’s disease and ulcerative colitis, both characterized by chronic inflammation of the GI tract. Crohn’s can affect any part of the GI tract, while ulcerative colitis is confined to the colon. Symptoms include abdominal pain, diarrhea, and weight loss. Diagnosis relies on endoscopy and biopsy, with treatment options ranging from anti-inflammatory medications to surgery.

Gastritis involves inflammation of the stomach lining, often caused by Helicobacter pylori infection or NSAID use. PUD involves open sores in the stomach or upper small intestine. Symptoms include stomach pain and nausea. Treatment focuses on addressing the underlying cause, such as eradicating H. pylori with antibiotics or discontinuing NSAIDs.

Celiac Disease: Beyond Gluten Intolerance

Pathophysiology and Symptoms: Celiac disease is an autoimmune disorder triggered by gluten ingestion in genetically predisposed individuals. The immune response damages the small intestine's lining, leading to malabsorption of nutrients. Symptoms vary widely and can include diarrhea, weight loss, anemia, and fatigue.

Diagnosis: Diagnosing celiac disease can be challenging due to its diverse symptoms. Blood tests for specific antibodies, such as anti-tissue transglutaminase (tTG), and intestinal biopsies are commonly used diagnostic tools. Confirming the diagnosis typically involves both positive antibody tests and evidence of intestinal damage.

Management: The cornerstone of celiac disease management is a strict, lifelong gluten-free diet. This diet involves avoiding all foods containing wheat, barley, and rye. Despite the challenges of adhering to this diet, it is essential for managing symptoms and preventing complications. Emerging therapies, including enzyme supplements and immune modulators, are being researched to complement dietary management.

The Role of the Gut Microbiome

The gut microbiome, a complex community of microorganisms in the digestive tract, plays a critical role in overall health. It aids in nutrient absorption, immune regulation, and protection against pathogens. Dysbiosis, or an imbalance in the microbiome, is linked to various GI disorders. Modulating the microbiome through probiotics, prebiotics, and diet is a promising therapeutic approach. For instance, a diet rich in fiber can promote a healthy microbiome, while processed foods can disrupt it.

Advances in GI Disorder Management

Recent advancements in the treatment of GI disorders include personalized medicine approaches, such as using biologics that target specific inflammatory pathways in IBD. Technological innovations like high-resolution manometry and capsule endoscopy improve diagnostic accuracy. Additionally, fecal microbiota transplantation is emerging as an effective treatment for conditions like recurrent Clostridium difficile infection.

Importance of a Multidisciplinary Approach

Managing GI disorders requires a comprehensive, multidisciplinary approach. This includes collaboration between gastroenterologists, dietitians, mental health professionals, and primary care providers. Addressing psychological factors, such as anxiety and depression, which often accompany chronic GI conditions, is crucial. Patient education and lifestyle modifications, including dietary changes and stress management, play significant roles in treatment.

Conclusion: Implications for Celiac Disease Patients

This review highlights the complex nature of GI disorders and the importance of a holistic, patient-centered approach to management. For those with celiac disease, understanding the disease's immunological basis and adhering to a gluten-free diet are essential for symptom management and preventing complications. Continued research into the gut microbiome and emerging therapies offers hope for improved treatments. A multidisciplinary approach, integrating medical, dietary, and psychological care, is vital for enhancing the quality of life and health outcomes for individuals with celiac disease.

Read more: cureus.com

Celiac.com 06/06/2024 - Microscopic colitis is a type of chronic inflammatory bowel disease characterized by persistent watery diarrhea, abdominal pain, cramps, bloating, weight loss, nausea, fecal incontinence, and dehydration. It comprises two distinct sub-types: collagenous colitis and lymphocytic colitis, both leading to non-bloody watery diarrhea. In contrast, celiac disease is an autoimmune disorder triggered by gluten consumption, resulting in damage to the small intestine. Despite their differences, recent studies have hinted at a potential association between microscopic colitis and celiac disease, necessitating further investigation.

Utilizing National Inpatient Data for Analysis

This study utilized the National Inpatient Sample (NIS) database spanning four years (2016–2019) to conduct a comprehensive analysis of the relationship between microscopic colitis and celiac disease. Through specified International Classification of Diseases, 10th Edition (ICD-10) codes, patients with and without microscopic colitis, along with the presence or absence of coexisting celiac disease, were identified. Statistical analyses, including univariate and multi-variate methods, were employed to assess the association while adjusting for various confounding factors. The study encompassed a vast dataset of over 26 million patients, providing robust insights into this intriguing link.

Key Findings and Clinical Implications

The analysis revealed a significant association between microscopic colitis and celiac disease, supported by both univariate and multi-variate analyses. Interestingly, celiac disease emerged as an independent risk factor for increased mortality among microscopic colitis patients, although it did not significantly impact the mean hospital stay. These findings underscore the need for heightened awareness and clinical vigilance in managing patients with coexisting microscopic colitis and celiac disease. Moreover, the study's large-scale approach and comprehensive analysis contribute valuable insights into the complex interplay between these gastrointestinal disorders, paving the way for more targeted treatments and improved patient outcomes.

This study delved into the intriguing association between microscopic colitis and celiac disease using extensive population-based data from the National Inpatient Sample (NIS) database spanning four years (2016–2019). The investigation aimed to elucidate this relationship with robust statistical analyses while controlling for various confounding factors. Here's a detailed summary of the study's key aspects and findings:

Exploring the Link Between Microscopic Colitis and Celiac Disease

The study analyzed data from over 26 million patients, identifying those with and without microscopic colitis and assessing the presence or absence of coexisting celiac disease. Statistical analyses, including univariate and multi-variate methods, were employed to evaluate the association while adjusting for confounding factors such as age, race, hospital characteristics, and comorbidities.

Association and Impact

The analysis revealed a significant association between microscopic colitis and celiac disease, supported by both univariate and multi-variate analyses. Interestingly, celiac disease emerged as an independent risk factor for increased mortality among microscopic colitis patients. However, there was no significant impact on the mean hospital stay.

Clinical Implications

These findings highlight the clinical relevance of understanding the link between microscopic colitis and celiac disease, emphasizing the need for vigilant monitoring and appropriate management for patients with coexisting conditions. The study's population-based approach and comprehensive analysis contribute valuable insights for informed decision-making in healthcare.

Future Directions

The study sets the stage for further research focusing on mechanistic aspects, prospective studies to establish causality, and exploring therapeutic interventions. Addressing limitations related to data accuracy and histologic subtypes is crucial for refining our understanding and improving clinical management.

This study establishes a probable association between microscopic colitis and celiac disease, backed by rigorous statistical analyses. It also identifies celiac disease as an independent risk factor for increased mortality among microscopic colitis patients. These findings provide a foundation for future research and clinical considerations, aiming to optimize patient care and outcomes in the realm of gastrointestinal health.

Source: journals.lww.com

Celiac.com 05/13/2024 - A recent study from Ontario, Canada sheds light on a concerning association between immune-mediated gastrointestinal (GI) conditions such as celiac disease and inflammatory bowel disease (IBD) and the increased risk of developing eating disorders. While previous research hinted at this connection, this comprehensive study provides deeper insights into the matter.

The study was conducted by Subramanian, Lakshmimathy MD; Coo, Helen MSc; Jane, Alanna MD; Flemming, Jennifer A. MD, MAS; Acker, Amy MD; Hoggan, Benjamin MSc; Griffiths, Rebecca BSc; Sehgal, Anupam MBBS, DNB; Mulder, and Daniel MD, PhD. They are variously affiliate with the Department of Pediatrics, Queen’s University, Kingston, Ontario, Canada; the Gastrointestinal Diseases Research Unit, Faculty of Health Sciences, Queen’s University, Ontario, Canada; and the Institute of Clinical Evaluative Sciences (ICES), Ontario, Canada.

Their study is a retrospective matched cohort analysis, which involved individuals under the age of 50 diagnosed with immune-mediated GI diseases between 2002 and 2020.  Researchers meticulously matched cases with controls based on birth year, sex, and region of residence. Among the 83,920 cases examined, those with pre-existing eating disorders were excluded.

Twofold Increased Risk

Over the follow-up period until January 31, 2022, the study identified 161 cases of eating disorders among individuals with immune-mediated GI diseases, compared to 160 among controls. The incidence rate ratio for eating disorders in this population was 1.99, indicating a nearly twofold increased risk.

Interestingly, the risk was particularly pronounced among pediatric cases, with children under 18 years old showing a significantly higher hazard ratio compared to adults. For instance, pediatric incident cases of ulcerative colitis exhibited the largest hazard ratio of 4.11.

Celiac Disease and IBD Patients Should be Monitored for Eating Disorders

These findings underscore the importance of early screening and detection, especially among pediatric patients with immune-mediated GI diseases. Healthcare professionals should be vigilant in monitoring patients with celiac disease and IBD for signs of eating disorders, as timely intervention can significantly impact outcomes. Further research is warranted to explore the underlying mechanisms driving this association and develop targeted interventions to mitigate the risk.

Read more in Clinical and Translational Gastroenterology

Celiac.com 03/18/2024 - A recent study aimed to uncover the prevalence of celiac disease among individuals with systemic lupus erythematosus, shedding light on potential connections between the two conditions.

Researchers conducted a thorough investigation, reviewing 14 studies that met their inclusion criteria. They analyzed data from over 1200 patients with systemic lupus erythematosus to determine the prevalence of biopsy-verified celiac disease and serological markers indicative of celiac disease.

The research team included Adonis Sotoodeh, Madeleine Nguyen Hoang, Karin Hellgren, and Anders Forss. They are variously affiliated with the Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; the Gastroenterology Unit, Department of Gastroenterology, Dermatovenereology and Rheumatology, Karolinska University Hospital, Stockholm, Sweden; and the Department of Medicine, Solna, Division of Clinical Epidemiology, Karolinska Institutet, Stockholm, Sweden.

Serological Markers for Celiac Disease in Those with Systemic Lupus Erythematosus was 3.7%

Surprisingly, the study found that the prevalence of biopsy-verified celiac disease in patients with systemic lupus erythematosus was comparable to that of the general population, at 0.7%. However, the prevalence of serological markers for celiac disease was slightly higher, at 3.7%.

Despite these findings, the researchers did not identify any significant associations between the prevalence of celiac disease in individuals with systemic lupus erythematosus and various study characteristics or demographics.

Based on these results, the researchers concluded that routine screening for celiac disease may not be necessary for all patients with systemic lupus erythematosus. However, they suggested that individual screening could be considered in cases where there is clinical suspicion or additional risk factors for celiac disease.

While further research is needed to fully understand the connection between these two conditions, this study provides important guidance for healthcare professionals in managing patients with systemic lupus erythematosus, who may also be at risk for celiac disease.

Read more in Lupus Science & Medicine at the BMJ
 

Celiac.com 03/13/2024 - Trichobezoar may sound like a term from a medical textbook, but for some individuals, it's a real and challenging condition. Imagine a solid mass forming in your stomach, composed of hair and food debris. This unusual condition, known as trichobezoar, is exceptionally rare, particularly in children. However, a recent case study has shed light on a unique connection between trichobezoar and celiac disease, emphasizing the importance of understanding these conditions and their treatment.

A team of researchers present an unusual case involving the discovery of gastric trichobezoar in a 15-year-old girl who had undiagnosed celiac disease. The condition manifested after she experienced abdominal pain and pallor.

Trichobezoar typically occurs in less than 1% of children, with most cases observed in young girls with psychiatric disorders. The condition arises from a compulsion to pull out hair (trichotillomania) and ingest it (trichophagia), leading to the accumulation of hair within the stomach lining. While trichobezoar is often associated with psychiatric conditions, its link to celiac disease is less common but noteworthy.

In a recent case study, a 15-year-old girl presented with symptoms of trichobezoar, including abdominal pain, vomiting, and unexplained weight loss. Upon examination, doctors discovered a firm mass in her abdomen, along with signs of hair loss on her scalp. What made this case unique was the subsequent diagnosis of celiac disease, a condition characterized by an adverse reaction to gluten.

Celiac disease is a chronic autoimmune disorder triggered by the ingestion of gluten, a protein found in wheat, barley, and rye. While the association between trichobezoar and celiac disease is unusual, researchers suggest two possible explanations. Firstly, deficiencies in iron and folic acid, common in individuals with celiac disease, may lead to behavioral disorders such as trichophagia. Secondly, celiac disease itself may directly contribute to the development of trichobezoar.

Treatment for trichobezoar typically involves surgical removal of the mass, followed by psychological support to prevent recurrence. In cases associated with celiac disease, adopting a gluten-free diet is essential to manage symptoms and promote healing. This comprehensive approach addresses both the physical and psychological aspects of the condition, offering patients a chance at improved health and well-being.

While trichobezoar and celiac disease are relatively rare on their own, their coexistence presents a unique challenge for patients and healthcare providers alike. By raising awareness of this uncommon association and emphasizing the importance of early detection and treatment, we can better support individuals living with these conditions. As medical research continues to advance, we hope to gain further insights into the complex relationship between trichobezoar, celiac disease, and other related disorders, ultimately improving outcomes for those affected.

Read more at cureus.com

The research team included Hassnae Tkak, Amal Hamami, Aziza Elouali, Nadir Miry, Amal Bennani, Houssain Benhaddou, Abdeladim Babakhouya, and Maria Rkain. They are variously affiliated with the Department of Pediatrics, University Hospital Mohamed V, Faculty of Medecine and Pharmacy, University Mohamed first, Oujda, MAR; the Department of Pediatrics, Mohammed VI University Hospital, Oujda, MAR; the Faculty of medicine and pharmacy of Oujda, Mohammed I University of Oujda, Morocco; Oujda, MAR; the Pathology department, Mohammed VI University Hospital; Oujda, MAR; the Histopathology department, Faculty of Medicine and Pharmacy, Oujda, MAR; the Department of Pediatric Surgery, Mohammed VI University Hospital, Oujda, MAR; the Service de Pédiatrie, CHU Mohammed VI, Oujda, Maroc. , Faculté de médecine et de pharmacie d'Oujda, Université Mohammed I d'Oujda, Maroc., CHU Mohammed Vi Oujda Morocco, Oujda, MAR; the Department of Pediatrics, Mohammed VI university hospital, Oujda, Morocco., Faculty of medicine and pharmacy of Oujda, Mohammed I University of Oujda, Morocco, Oujda, MAR; and the Pediatric Gastroenterology, CHU Mohammed Vi Oujda Morocco, Oujda, MAR.

Celiac.com 02/14/2024 - Rising celiac disease rates pose a significant health challenge, yet the environmental triggers behind the rise remain elusive. Among the various potential factors, iron deficiency has emerged as a potential contributor to the development of celiac disease. A recent study, employing Mendelian randomization (MR), sought to investigate the intricate relationship between iron status and the prevalence of celiac disease.

Understanding Mendelian Randomization

Mendelian randomization (MR) is a powerful method that explores potential causal relationships between an exposure and an outcome. In this case, the researchers delved into the connection between genetic variants associated with iron status and the presence of celiac disease.

Research Design

The study adopted a two-sample MR approach, utilizing single nucleotide polymorphisms (SNPs) linked to iron status. These SNPs were derived from a meta-analysis of three genome-wide association studies (GWAS). The association between these SNPs and celiac disease was then assessed using GWAS summary statistics from the UK Biobank, which included data from 336,638 white British individuals, 1855 of whom had celiac disease.

Key Findings - Higher Iron Status Inversely Related to Risk of Celiac Disease

The team identified four SNPs strongly associated with systemic iron status. Notably, these were not linked to known risk factors for celiac disease. The harmonized analysis revealed a compelling association: higher iron status was inversely related to the risk of celiac disease. The odds ratio per one standard deviation increase in serum iron was 0.65, with a 95% confidence interval of 0.47 to 0.91. Crucially, leave-one-out analyses consistently supported these findings, and no single SNP disproportionately influenced the association. Importantly, all three assumptions of MR appeared plausible, strengthening the credibility of the study's conclusions.

Conclusion and Implications

The study's groundbreaking discovery that genetically lower iron levels are associated with an increased risk of celiac disease holds significant implications for prevention strategies. By shedding light on the potential role of iron status in the development of celiac disease, this research opens avenues for targeted interventions and preventive measures.

As the scientific community continues to unravel the complex factors contributing to celiac disease, studies like these pave the way for a deeper understanding of the condition and, ultimately, more effective strategies for its prevention and management. This research not only adds valuable insights to the celiac disease puzzle but also underscores the potential impact of addressing iron status in the broader context of preventive healthcare.

Read more in BMJ Open Gastroenterology

Celiac.com 01/15/2024 - Celiac disease is a chronic autoimmune condition primarily affecting the small intestine due to gluten sensitivity. Celiac disease exhibits various extraintestinal features, with the pancreas being one of the affected organs.    

A team of researchers recently set out to provide a comprehensive overview of the pancreatic changes associated with celiac disease, with a particular focus on the exocrine aspect.

The research team included Daniel Vasile Balaban, Iulia Enache, Marina Ciochina, Alina Popp, and Mariana Jinga. They are variously affiliated with the Department of Internal Medicine and Gastroenterology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania; Dr. Carol Davila Central Military Emergency University Hospital, Bucharest, Romania; the Department of Pediatrics, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania; and the National Institute for Mother and Child Health, Bucharest, Romania.

While pancreatic endocrine changes in celiac disease, especially in relation to type 1 diabetes mellitus, have been extensively studied, the attention to the exocrine pancreas has been comparatively limited. The review addresses several facets of pancreatic involvement in celiac disease.

Risk of Pancreatitis

The review explores the connection between celiac disease and the risk of pancreatitis. Understanding this association is crucial for managing celiac patients effectively.

Association with Autoimmune Pancreatitis

The link between celiac disease and autoimmune pancreatitis is examined. Autoimmune pancreatitis is considered in the context of celiac disease, shedding light on potential shared mechanisms.

Prevalence and Outcomes of Pancreatic Exocrine Insufficiency

The prevalence and outcomes of pancreatic exocrine insufficiency are discussed concerning both newly diagnosed and gluten-free diet-treated celiac disease patients. The impact of gluten-free diet adherence on pancreatic function is a notable aspect.

Link with Cystic Fibrosis

The review delves into the association between celiac disease and cystic fibrosis. Understanding this link is essential for comprehensive care, especially when dealing with concurrent conditions.

Mechanisms of Pancreatic Exocrine Impairment

The mechanisms behind the associated pancreatic exocrine impairment in celiac disease are explored. This includes an understanding of the pathological processes leading to pancreatic changes.

Recommendations for Clinical Practice

The review concludes by highlighting recommendations for clinical practice. These recommendations encompass the need for assessing pancreatic involvement in celiac patients and recognizing concomitant pancreatic diseases.

In summary, the review emphasizes that pancreatic alterations, encompassing both endocrine and exocrine aspects, are prevalent in celiac disease. Clinicians are urged to be vigilant for pancreatic involvement, and the recognition of concomitant pancreatic diseases in celiac patients is crucial for improving nutritional status and prognosis. Additionally, the review underscores the potential improvement in pancreatic function with a gluten-free diet, further emphasizing the importance of dietary management in celiac disease.

Read more in World J Gastroenterol 2022; 28(24): 2680-2688

Celiac.com 12/19/2023 - Celiac Disease is an immune-mediated disorder, primarily impacting the small intestine, though it is also known to affect extra-intestinal organs. Liver changes are common in celiac disease patients, and can even reach the biliary tract, notably impairing gallbladder function.

Researchers recently delved into the pathophysiological aspects, and clinical evidence, surrounding gallbladder dysfunction in people with celiac disease. 

The research team included Dimitri Poddighe, Kuanysh Dossybayeva, Diyora Abdukhakimova, Lyudmila Akhmaltdinova, and Aigul Ibrayeva. They are variously affiliated with the Department of Medicine, Nazarbayev University School of Medicine, Nur-Sultan, Kazakhstan; the National Research Center for Maternal and Child Health, Clinical Academic Department of Pediatrics, University Medical Center, Nur-Sultan, Kazakhstan; the National Research Cardiac Surgery Center, Nur-Sultan, Kazakhstan; and the National Research Center for Maternal and Child Health, Program of Pediatric Gastroenterology, Clinical Academic Department of Pediatrics, University Medical Center, Nur-Sultan, Kazakhstan.

One key sign of gallbladder dysfunction in celiacs is the perturbation of cholecystokinin secretion, mainly triggered by specific duodenal entero-endocrine cells in response to nutrient stimulation. This leads to gallbladder dysmotility, which is marked by impaired emptying during the digestive phase. Fortunately, this gallbladder impairment appears reversible in many cases with the adoption of a gluten-free diet.

Surprisingly, despite gallbladder dysfunction, celiac patients don't seem to be more susceptible to gallbladder complications, such as calculous, and acalculous cholecystitis. However, this conclusion does lack supporting evidence due to the scarcity of clinical studies investigating these specific clinical aspects.

The researchers emphasize the potential impact of improved celiac disease diagnosis and related dietary treatments over the last two decades. These advancements, which have led to a reduction in diagnostic delays, might have contributed to minimizing the clinical consequences of gallbladder dysfunction associated with celiac disease.

While there's a current lack of substantial evidence regarding the predisposition to gallbladder complications in celiac disease patients, the research team calls for dedicated clinical studies. Such studies could help to shed light on the intricate relationship between celiac disease and gallbladder impairment. 

Actively exploring these aspects will help healthcare professionals to refine their management of gallbladder issues in people with celiac disease, potentially improving overall patient outcomes.

Read more in Nutrients 2022, 14(20), 4379

Celiac.com 12/05/2023 - Tooth enamel, the outer protective layer of teeth, is formed through a complex process known as amelogenesis, which heavily relies on the function of ameloblasts – specialized epithelial cells in the jaw. The intricate interplay of various ameloblast-derived proteins serves as a scaffold for hydroxyapatite crystals, crucial for enamel structure. However, a recent groundbreaking study conducted by an international team of researchers, including those from the Institute of Dentistry at the University of Eastern Finland, has shed light on a previously unidentified type of autoimmune disorder affecting enamel formation.

Autoantibodies and the Breakdown of Central Tolerance

The study reveals a remarkable connection between tooth enamel developmental disorders found in autoimmune polyglandular syndrome type-1 (APS-1) and celiac disease. The majority of patients with these conditions develop autoantibodies, primarily of the IgA isotype, against ameloblast-specific proteins. These proteins, whose expression is induced by Autoimmune Regulator (AIRE) in the thymus, play a vital role in enamel formation. The breakdown of central tolerance, triggered by the presence of these autoantibodies, results in interference with the enamel development process. This marks a significant step forward in understanding the mechanisms underlying amelogenesis imperfecta in these autoimmune disorders.

Peripheral Tolerance Breakdown and the Role of Gluten in Celiac Disease

In the context of celiac disease, the study proposes a distinctive mechanism. The generation of autoantibodies against enamel-specific proteins appears to be driven by a breakdown of peripheral tolerance to intestinal antigens. Intriguingly, these antigens are also expressed in enamel tissue, linking gut proteins to the autoimmune response affecting tooth enamel. This novel insight challenges previous assumptions about the dental manifestations of celiac disease, suggesting that antibodies produced against gut or dietary proteins contribute to enamel defects by binding to proteins crucial for enamel development.

Paving the Way for Understanding Autoimmune Amelogenesis Imperfecta

This comprehensive study not only deepens our understanding of the intricate processes involved in enamel formation but also introduces a new paradigm – autoimmune amelogenesis imperfecta. The findings provide a foundation for further research into the specific mechanisms underlying this IgA-dependent autoimmune disorder, potentially opening avenues for targeted interventions and improved dental care for individuals with celiac disease and related autoimmune conditions.

Read more: nature.com

Celiac.com 11/03/2020 - After four years of coordination, compilation, rigorous assessment and writing, the Global Down Syndrome Foundation (GLOBAL) has issued its medical care guidelines for adults with Down syndrome, aka the Global Guideline. 

The Global Guideline was peer reviewed, edited, and published in the October 2020 issue of the Journal of the American Medical Association (JAMA). The Global Guideline is the first of its kind, and is available in full at no cost.

Global Guideline contributors include the clinical directors of eight of the country's eight top adult Down syndrome research and treatment centers: Advocate Health Care in Chicago; University of Pittsburgh Medical Center; Kennedy Krieger Institute at Johns Hopkins School of Medicine; University of Kansas Medical Center; University of Arkansas for Medical Sciences; and Denver Health in conjunction with the Anschutz Medical Campus School of Medicine at University of Colorado.

The Global Guideline is aimed at clinicians and focuses on nine areas of care: Atlantoaxial Instability, Behavioral Health, Cardiovascular Disease, Celiac Disease, Dementia, Diabetes, Obesity, Osteoporosis, and Thyroid.

It is made up of 14 recommendations and 4 statements of good practice. Some of the recommendations align with existing guidelines for individuals without Down syndrome, and two are markedly different. There were several questions associated with the recommendations that had no published research evidence, and therefore were answered based on the clinical expertise of the authors.

Successful completion of the project, and publication in JAMA, means that Global can now "focus on collaborating with other Down syndrome and disability organizations as well as medical institutions to ensure clinicians are following our Global Guideline and measuring outcomes," says Global President & CEO Michelle Sie Whitten. 

"From the beginning, GLOBAL has been leading the way, empowering people with Down syndrome with improved care and health outcomes," says mom Darlene Beals. "The Global Guideline is an important new resource for my 24-year-old son Alan, and I believe if anyone can get to the bottom of health disparities for African Americans with Down syndrome, it's GLOBAL."

GLOBAL is supported by over 50 local, national, and international Down syndrome organizations and several generous sponsors. By the end of 2021, GLOBAL plans to translate the guidelines into several languages, and distribute it widely. GLOBAL plans to update and expand the Global Guideline every 6 years.

Global Guideline for Down syndrome may be printed and downloaded for personal and clinical use free of charge. Celiac disease is associated with Down syndrome.

Celiac disease is common in children with Down syndrome, and celiac screening is important for people with Down syndrome.

Read more at in JAMA

The Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup includes: Peter Bulova, MD: Associate Professor of Medicine, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania; George Capone, MD: Director, Down Syndrome Clinic & Research Center, Kennedy Krieger Institute, Associate Professor of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland; Brian Chicoine, MD: Medical Director, Advocate Medical Group Adult Down Syndrome Center, Park Ridge, Illinois; Terry Odell Harville, MD, PhD, D(ABMLI) D(ABHI): Professor of Pathology and Laboratory Services, and Internal Medicine, Department of Pathology and Laboratory Services, and Department of Internal Medicine, Division of Hematology, University of Arkansas for Medical Sciences, Little Rock, Arkansas; Barry A Martin, MD: Associate Professor of Clinical Practice, Division of General Internal Medicine, University of Colorado School of Medicine, Anschutz Medical Center, Aurora, Colorado; Dennis McGuire, LCSW, PhD: Private Practice, Evanston, Illinois; Kent D. McKelvey, MD: Associate Professor, Rockefeller Chair in Clinical Genetics, University of Arkansas for Medical Sciences, Little Rock, Arkansas; Moya Peterson, PhD, APRN, FNP-BC: Clinical Professor, University of Kansas Medical Center, Schools of Nursing and Medicine, Kansas City, Kansas; Amy Y Tsou, MD, MSc: Evidence-based Practice Center, ECRI Center for Clinical Excellence and Guidelines, Plymouth Meeting, Pennsylvania; Staff Neurologist, Division of Neurology, Michael J Crescenz Veterans Affairs Medical Center, Philadelphia, Pennsylvania; Carl Tyler, MD, MSc: Director of Developmental Disabilities - Practice-Based Research Network, and Professor, Family Medicine and Community Health, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University School of Medicine, Cleveland, Ohio; Michelle Sie Whitten, MA: President & CEO, Global Down Syndrome Foundation, Denver, Colorado; Bryn Gelaro, MA, LSW: Director of Adult Initiatives, Global Down Syndrome Foundation, Denver, Colorado; and Michael Wells, BS: Formerly Research Coordinator, Developmental Disabilities - Practice-Based Research Network, Cleveland, Ohio.

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 08/05/2020 - Current protocols by the American Academy of Pediatrics (AAP) call for children with Down syndrome to be screened for celiac disease. However, there isn't much good study data to demonstrate the value or efficacy of this approach. To get a better idea of the situation, a team of researchers recently set out to determine the incidence of celiac disease among children with Down syndrome. 

The research team included Kathryn K Ostermaier, Amy L Weaver, Scott M Myers, Ruth E Stoeckel, Slavica K Katusic, and Robert G Voigt. They are variously affiliated with the Baylor College of Medicine, Houston TX, USA; the Mayo Clinic, Rochester, MN, USA; and the Geisinger Autism & Developmental Medicine Institute in Lewisburg, PA, USA.

To start, the team determined the number of celiac disease cases among children with Down Syndrome in a population-based birth group of children born from 1976 to 2000 in Olmsted County, Minnesota. 

The team included patients with karyotype-confirmed Down syndrome, and used diagnosis codes, positive serology, and duodenal biopsies to confirm celiac disease cases. 

The team then compared cases of celiac disease in Down syndrome against the published incidence of celiac disease for Olmsted County residents, which amounted to nearly eighteen cases for every 100,000 person-years. 

Among 45 individuals with Down syndrome from the birth group, the team found three patients with positive celiac serology and confirmatory biopsies at ages 9, 12, and 23 years, for a rate of 325 cases for every 100,000 person-years. 

The simple takeaway here is that celiac disease is nearly twenty times more common in people with Down syndrome than in the general population, which bolsters the AAP guidelines for screening all Down syndrome patients for celiac disease.

So, if you or a loved one knows anyone with Down syndrome , make sure they get the word and don't miss this important screening.

Read more at Clin Pediatr (Phila). 2020 Jul 15;9922820941247