During the past decade, it has been shown that the association between Down's syndrome and coeliac disease is relatively frequent. Prevalence rates of coeliac disease in patients with Down's syndrome reported by different authors are significantly higher than those found in the general population. The main purpose of this study was to assess the prevalence of coeliac disease in a series of subjects with Down's syndrome from our geographical area.
A cross-sectional study.
Outpatient paediatric clinics of acute-care teaching hospitals in Barcelona, Spain.
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 immunosorbent 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. In 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 syndrome, aged between 2 and 15 years, coeliac disease was confirmed by jejunal biopsy. Accordingly, the minimum prevalence rate of coeliac disease was of 6.3%. Ninety-four percent (17/18) and 78% (14/18) of patients with the association Down's syndrome and coeliac disease showed AEA and AGA positivity, respectively. Fifteen patients with the association coeliac disease and Down's syndrome (15/18) showed clinical manifestations compatible with coeliac disease, with a predominance of intestinal symptoms (8/18) over those with atypical or extra-intestinal forms (7/18). Three patients had clinically silent forms of coeliac disease (3/18).
Measurement of serum concentrations of AEA should be added to the list of screening tests for coeliac disease in patients with Down's syndrome, otherwise definite association between both diseases may pass unnoticed and diagnosis of coeliac disease be considerably delayed.