Celiac disease in Portuguese children and adults with Down syndrome

Celiac disease (CD) affects up to 1% of the general population. Studies from several countries reported higher prevalence rates in Down syndrome (DS) patients. The aim of this study was to determine the CD prevalence in Portuguese DS patients.

The study cohort consisted of 98 DS patients (58 male and 40 female, 1-45 years). Serological screening was performed using immunoglobulin A (IgA) anti-endomysium antibody (EMA), determined by an immunofluorescence assay with monkey esophagus as substrate, and IgA anti-tissue transglutaminase (tTG), measured by an enzyme-linked immunosorbent assay with tissue transglutaminase as antigen. The serologically positive patients were selected for upper endoscopy with biopsy procedure. The intestinal mucosa biopsy specimens were classified according to the Marsh criteria.

Nineteen patients (19.4%), nine children and 10 adults, were positive for IgA EMA and 12 (12.2%), eight children and four adults, for IgA anti-tTG. All the IgA anti-tTG positive patients were simultaneously positive for IgA EMA. The histological findings (Marsh III) confirmed CD in nine of the remaining 17 patients who underwent endoscopy and biopsy - prevalence rate of 9.2%. All Marsh III patients were IgA EMA positive, but four Marsh III patients were IgA anti-tTG negative.

DS Portuguese patients have a high CD prevalence rate. This study supports that, in our population, the current recommendations for CD screening in DS patients should be implemented and screening must be EMA based.