Tissue transglutaminase antibodies are a useful serological marker for the diagnosis of celiac disease in patients with Down syndrome.

BACKGROUND

Celiac disease (CD) is overrepresented among patients with Down syndrome (DS), who frequently lack any typical symptoms. Therefore, screening for CD is recommended in this high-risk group. The aim of the study was to determine the prevalence of CD in Arab children with DS and evaluate the contribution of immunoglobulin (Ig) A and IgG anti-gliadin antibodies (AGA), IgA and IgG tissue transglutaminase (TTG) antibodies, and IgA anti-endomysial antibodies (EMA) to screen for CD in children with DS.

PATIENTS AND METHODS

A total of 52 Arab patients with DS and 52 healthy Arab control subjects were studied for CD using various serological markers. Data on age, sex, weight, height, gastrointestinal symptoms, and endocrine abnormalities were recorded. Human leukocyte antigen (HLA) was studied in patients undergoing small intestinal biopsy.

RESULTS

Five patients with DS were IgA TTG-positive and only 1 patient with DS was IgG TTG-positive. EMA was negative in all patients with DS. TTG (IgA and IgG) and EMA were negative in all control children. IgA AGA was positive in 12 patients with DS and 3 control subjects (P = 0.02), whereas IgG AGA was positive in 41 patients with DS and 26 control subjects (P = 0.004). Only children testing positive for TTG underwent upper endoscopy with duodenal biopsy. Two children with DS were diagnosed with CD. Both patients were IgA TTG-positive. One was HLA DQ2-positive and another was negative for HLA DQ2 and DQ8.

CONCLUSIONS

CD is prevalent (3.8%) in Arab patients with DS. Based on our cohort, IgA TTG is useful in diagnosing patients with CD and DS.