Objectives: High prevalence rates of celiac disease in patients with Down syndrome have been reported in several countries. However, in Brazil there is no data regarding this association. In this study we report the prevalence of celiac disease in Down syndrome children and adolescents from southern Brazil.
Methods: Seventy-one patients (32 female and 39 male, 2-18 years) from Curitiba, Brazil, were studied. Eighty young people (42 male and 38 female, 2-19 years) were used as controls. All subjects were screened for the IgA-antiendomysium antibody (EmA) and IgA anti-tecidual transglutaminase (anti-tTG). EmA was measured by an immunofluorescence assay using umbilical cord as the substrate and anti-tTG by ELISA with tecidual transglutaminase as the antigen. The total IgA serum level was determined by turbidimetry.
Results: Five DS patients (7%) were positive for EmA-IgA, with titers from 1/5 to 1/80 and 14 (17.5%) for anti-tTG (21-340 units). All EmA positive patients also presented anti-tTG antibodies simultaneously. Clinical and histological findings of the intestinal mucosa confirmed celiac disease diagnoses in four patients. The other EmA positive patient was asymptomatic and was not submitted to duodenal biopsy. Patients only positive for anti-tTG presented borderline values (< 25 units) and were asymptomatic. None of the controls were positive for EmA or anti-tTG. No Down syndrome patients or controls presented IgA deficiency.
Conclusions: These data indicates a high prevalence (5.6%) of confirmed celiac disease in Down syndrome patients from southern Brazil.