Abstract 690

Objectives: The study was undertaken to investigate the prevalence of Celiac Disease in Down syndrome in the United States.

Material and methods: Forty five children and two adults with Down Syndrome were screened for IgA-antiendomysial antibodies (EMA), IgA -antigliadin antibodies (AGA), and serum IgA. Patients with IgA deficiency were excluded from the study. Patients found to be positive for either EM-or AGA were considered for an intestinal biopsy.

Results: All patients had normal serum IgA levels. Thirty eight patients (81%) were negative for all antibodies screened. Six patients (13%) had positive EMA serologies. Of the six patients with positive EMA, three were positive for AGA. Two of the three patients positive for both EMA and AGA had GI symptoms. Three of the six patients with positive EMA had intestinal biopsies done. Two had villous atrophy compatible with Celiac Disease and one had eosinophilic infiltration. One additional intestinal biopsy is planned. The remaining two patients with positive EMA had borderline antibodies and will be screened with AGA and EMA yearly. Three patients (6%) were AGA positive and EMA negative without GI symptoms. All were referred to the GI clinic for further assessment, but have not had intestinal biopsies done. Two of them had normal EMA and AGA antibodies six months later.

The patients also had IgG AGA done by the referral lab. Twenty patients (43%) had positive IgG AGA. The sensitivity and specificity of this screening test for Celiac Disease is still unclear. Patients have not been biopsied if only the IgG AGA was positive.

Conclusions: 1. There is a higher prevalence of Celiac Disease in Down Syndrome (at least 1:17 in our study versus 1:10,000 in the general US population). 2. There is a high prevalence of positive EMA and AGA (both IgA and IgG) in our screened group. 3. Children with positive antibodies often have minimal GI symptoms.

Recommendation: We suggest that serologic analysis (EMA and AGA), to screen for Celiac Disease, be performed during the routine yearly health assessment of children with Down Syndrome.