Celiac disease is a chronic immune-mediated inflammatory disorder with multi-systemic manifestations, both gastrointestinal and nongastrointestinal. In genetically susceptible individuals, ingestion of gluten can cause inflammation and damage to the small intestine mucosa. Celiac disease has an incidence of 1:100 in the United States.
In order for celiac disease to develop, human leukocyte antigen (HLA) molecule DQ2, half of the DQ2 molecule, or DQ8 must be present. These molecules confer susceptibility to celiac disease by binding to gluten and interacting with intestinal T cells, leading to a pathologic immune response involving autoimmunity. The familial nature of susceptibility to celiac disease is shown by an 11-18% prevalence of this disorder in siblings of individuals with celiac disease and a 70% concordance rate between identical twins.
Among celiac disease patients, >90% carry DQ2, 5-10% carry DQ8, and the remaining carry half DQ2.
- The presence of DQ2, half DQ2, or DQ8 alone is not sufficient for a diagnosis of celiac disease.
- Most individuals with a positive genetic result do not develop celiac disease.
- The risk for developing celiac disease in individuals with a positive genetic result approaches 40% if there is a known first degree relative with celiac disease.
Clinical symptoms, positive test results for endomysial, tissue transglutaminase or deamidated gliadin peptide antibodies, or abnormal small bowel biopsy results all support a diagnosis of celiac disease.
The overall risk for an individual to develop celiac disease is influenced not just by genetic risk from the HLA-DQA/DQB genotype, but by presence of symptoms of celiac disease, positive results for celiac antibody tests or intestinal biopsy, and having relatives with celiac disease.
Celiac disease risk is also higher in individuals with IgA deficiency, Down syndrome, Turner syndrome, and the autoimmune disorders Type I diabetes mellitus, Sjogren syndrome, and thyroiditis. There are also additional genetic influences on the development of celiac disease in individuals predisposed to the disorder.
References:
- Green PHR and Cellier C. Celiac Disease. N Eng J Med 2007; 357:1731-1743.
- Megiorni F, Mora B, Bonamico M et al. HLA-DQ and risk gradient for celiac disease. Hum Immunol 2009; 70:55-59.
- Pietzak MM, Schofield TC, McGinnis FM et al. Stratifying risk for celiac disease in a large at-risk United States population by using HLA alleles. Clin Gastroenterol Hepatol 2009; 7:966-971.
- Sollid LM and Lie BA. (2005). Celiac Disease Genetics: Current Concepts and Practical Applications. Clin Gastroenterol and Hepat 3:843-851.
- Snyder CL, Young DO, Green PHR, et al. Celiac Disease. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews (Internet), University of Washington, Seattle, July 3, 2008:1-27. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=genepart=celiac PMID 20301720 (PubMed)
- Treem W. Emerging concepts in celiac disease. Curr Opin Pediatr 2004;16:552-559.
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Among celiac disease patients, >90% carry DQ2, 5-10% carry DQ8, and the remaining carry half DQ2.
- The presence of DQ2, half DQ2, or DQ8 alone is not sufficient for a diagnosis of celiac disease.
- Most individuals with a positive genetic result do not develop celiac disease.
- The risk for developing celiac disease in individuals with a positive genetic result approaches 40% if there is a known first degree relative with celiac disease.
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Anthony
Unlimited Plan Member since 2021
I have been using Healthmatters.io since 2021. I travel all over the world and use different doctors and health facilities. This site has allowed me to consolidate all my various test results over 14 years in one place. And every doctor that I show this to has been impressed. Because with any health professional I talk to, I can pull up historical results in seconds. It is invaluable. Even going back to the same doctor, they usually do not have the historical results from their facility in a graph format. That has been very helpful.
Karin
Advanced Plan Member since 2020
What fantastic service and great, easy-to-follow layouts! I love your website; it makes it so helpful to see patterns in my health data. It's truly a pleasure to use. I only wish the NHS was as organized and quick as Healthmatters.io. You've set a new standard for health tracking!
Paul
Healthmatters Pro Member since 2024
As a PRO member and medical practitioner, Healthmatters.io has been an invaluable tool for tracking my clients' data. The layout is intuitive, making it easy to monitor trends and spot patterns over time. The ability to customize reports and charts helps me present information clearly to my clients, improving communication and outcomes. It's streamlined my workflow, saving me time and providing insights at a glance. Highly recommended for any practitioner looking for a comprehensive and user-friendly solution to track patient labs!
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Anti-gliadin IgA, Anti-gliadin IgG, Celikey tTG IgA, Celikey tTG IgG, Deamidated Gliadin Abs, IgA, Deamidated Gliadin Abs, IgG, DGP IGA, DQ2, DQ8, Endomysial Antibody IgA, Endomysial Antibody Scr (IgA) w/Refl to Titer, Endomysial Antibody Titer, t-Transglutaminase (tTG) IgA, t-Transglutaminase (tTG) IgG, TTG IGA