Prevalence of coeliac disease in Down's syndrome

Objective During the past decade, it has been shown that the association be tween Down's syndrome and coeliac disease is relatively frequent. Prevalenc e rates of coeliac disease in patients with Down's syndrome reported by dif ferent authors are significantly higher than those found in the general pop ulation, The main purpose of this study was to assess the prevalence of coe liac disease in a series of subjects with Down's syndrome from our geograph ical area. Design A cross-sectional study. Setting Outpatient paediatric clinics of acute-care teaching hospitals in B arcelona, Spain, Participants A total of 284 persons with Down's syndrome aged between 1 and 25 years were included in the study. In all cases, serum concentrations of antigliadin antibodies (AGAs) (Pharmacia CAP system enzyme-linked immunoso rbent assay), antiendomysium antibodies (AEA) (indirect immunofluorescence) of immunoglobulin (Ig)A class or IgG class in cases of IgA deficiency were determined. Jejunal biopsy was offered to all patients with AEA positivity and to those with suggestive clinical manifestations of coeliac disease. I n all patients, a clinical study was made to evaluate the presence and time -course of symptoms related to coeliac disease. Main outcome measures and results In 18 of the 284 subjects with Down's syn drome, aged between 2 and 15 years, coeliac disease was confirmed by jejuna l biopsy. Accordingly, the minimum prevalence rate of coeliac disease was o f 6.3%. Ninety-four percent (17/18) and 78% (14/18) of patients with the as sociation Down's syndrome and coeliac disease showed AEA and AGA positivity , respectively. Fifteen patients with the association coeliac disease and D own's syndrome (15/18) showed clinical manifestations compatible with coeli ac disease, with a predominance of intestinal symptoms (8/18) over those wi th atypical or extra-intestinal forms (7/18). Three patients had clinically silent forms of coeliac disease (3/18). Conclusions Measurement of serum concentrations of AEA should be added to t he list of screening tests for coeliac disease in patients with Down's synd rome, otherwise definite association between both diseases may pass unnotic ed and diagnosis of coeliac disease be considerably delayed. Eur J Gastroen terol Hepatol 13:263-267 (C) 2001 Lippincott Williams & Wilkins.