Prevalence of celiac disease in Down syndrome in the United States

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.