Down Syndrome Abstract
Prevalence of celiac disease in Down syndrome in the United States
Zachor DA, Mroczek-Musulman E, Brown P
Abstract:BACKGROUND: Numerous studies in Europe have documented a high prevalence of celiac disease in Down syndrome. This study was undertaken to estimate the prevalence of celiac disease in Down syndrome in the southeastern United States.
METHODS: Seventy-five patients with Down syndrome were screened using immunoglobulin (Ig)A-anti antiendomysium antibodies, IgA-antigliadin antibodies, and total IgA level. When either antiendomysium or antigliadin antibodies produced positive findings, patients were referred to a pediatric gastroenterologist for consideration of a duodenal biopsy.
RESULTS: Thirteen percent (10/75) were positive for antiendomysium antibodies. Half of these patients were also positive for antigliadin antibodies. Six of 10 patients positive for antiendomysium antibodies underwent intestinal biopsy. Changes consistent with celiac disease were documented in five. Histologic findings ranged from focal to total villous atrophy. None had IgA deficiency.
CONCLUSIONS: There was a high prevalence of positivity to antiendomysium antibody in Down syndrome. Antiendomysium antibody was a more sensitive screening test than antigliadin antibody. The prevalence of celiac disease in Down syndrome in the southeastern United States was 1 in 14 cases. Screening with antiendomysium antibody and IgA for all children with Down syndrome is recommended, even if there are no gastrointestinal symptoms.
My comments: The results of 1 case of celiac disease to every 14 patients with DS is slightly higher than the New York study, which showed a rate of 1 to 21. These studies together confirm the increased rate of celiac disease in people with DS in the US.
Why screen for celiac disease if the child has no symptoms and is thriving? Because people with celiac disease are at high risk for other conditions, such as thyroid disease, diabetes, alopecia and intestinal lymphoma. It's important to identify those children with celiac disease to prevent or watch closely for these conditions.
Of the 5 people diagnosed with celiac disease, 2 were children ages 3 years and 6 years, and had no symptoms. The three other people were all 10 years or older and had symptoms. So the authors recommend screening for celiac disease in all children with DS at 3 years of age, unless symptoms arise that require testing before that age. Whether or not yearly screening should be instituted still needs to be investigated.
Also, note that IgG tests are not indicated when screening for celiac disease, as they are poor predictors for celiac disease.
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