Down Syndrome and Celiac Disease

Down syndrome and celiac disease

A number of studies have documented an increased prevalence of celiac disease in individuals with Down syndrome (DS), with a prevalence rate of 5-10% in a U.S. Caucasian DS population (compared to an estimated prevalence of 1/250 in the general population). In the study cited below, while many children with DS had diarrhea, constipation, vomiting, and abdominal pain, only abdominal bloating was more common in those children who tested positive for celiac disease compared to those who tested negative. Up to 20% of individuals with DS and celiac disease may have no overt clinical symptoms. [Book: 2001] [Roizen: 2013] [Mårild: 2013]
Celiac disease is an autoimmune gastrointestinal disorder characterized by a non-allergic intestinal hypersensitivity to the grain protein gluten. Jejunal mucosal atrophy results from exposure to gluten. Symptoms may include poor growth, diarrhea, constipation, vomiting, abdominal pain, and bloating. Many individuals with celiac disease may have no obvious clinical symptoms. However, even in these patients, there may be long-term effects of untreated disease, including micronutrient deficiency, osteoporosis, anemia, and an increased risk of gastrointestinal cancers (lymphoma).
Screening for celiac disease in children with Down syndrome is recommended.[Bull: 2011] When and how best to screen is yet to be defined, although some are recommending the following: anti-gliadin IgG and IgA, IgA endomysial antibody, and total IgA (to aid in interpretation given the high prevalence of IgA deficiency in the general population). Of these tests, IgA endomysial antibody has the highest specificity. However it may not be produced before age three and its sensitivity varies from lab to lab. Generally it is suggested that children with Down syndrome be screened on at least one occasion, even if there are no symptoms (one study identified a small group of children who initially tested negative and several years later tested positive). While some guidelines suggest screening at age two, it may be appropriate to wait till slightly older when there are no suggestive symptoms, particularly with the limited utility of IgA endomysial antibody at the earlier age. It is not helpful to screen prior to exposure to gluten (i.e., in early infancy).

Positive screening tests should be followed with a referral to a gastroenterologist to consider endoscopy for definitive diagnosis.
Treatment includes: (also see Celiac Disease: Treatment):
  • Life long dietary exclusion of the following grain products: wheat, rye, barley and possibly oats (a nutritionist can educate a family about this diet);
  • Identification and treatment of any complications at the time of diagnosis (e.g., anemia, malnutrition);
  • Potential evaluation of family members (this disease may have a familial pattern even if the diagnosis is in a child with Down syndrome).


Author: Daniel Jackson, MD - 1/2014
Content Last Updated: 1/2014

Page Bibliography

Book L, Hart A, Black J, Feolo M, Zone JJ, Neuhausen SL.
Prevalence and clinical characteristics of celiac disease in Downs syndrome in a US study.
Am J Med Genet. 2001;98(1):70-4. PubMed abstract

Bull MJ and the American Academy of Pediatrics Committee on Genetics.
Health Supervision for Children With Down Syndrome.
Pediatrics. 2011;128(2):393-406. PubMed abstract / Full Text

Mårild K, Stephansson O, Grahnquist L, Cnattingius S, Söderman G, Ludvigsson JF.
Down syndrome is associated with elevated risk of celiac disease: a nationwide case-control study.
J Pediatr. 2013;163(1):237-42. PubMed abstract

Roizen NJ, Magyar CI, Kuschner ES, Sulkes SB, Druschel C, van Wijngaarden E, Rodgers L, Diehl A, Lowry R, Hyman SL.
A Community Cross-Sectional Survey of Medical Problems in 440 Children with Down Syndrome in New York State.
J Pediatr. 2013. PubMed abstract