Abstract
Celiac disease (CD) is an immune-mediated disease affecting the small intestine secondary to gluten exposure. The currently available treatment is lifelong adherence to a gluten-free diet (GFD). Several disorders are known to be associated with celiac disease, including Down syndrome (DS). In several studies, the prevalence of CD in DS ranged between 4 and 17%. CD is prevalent in Arabs; however, few studies have been performed to determine the prevalence of CD in DS patients. Our study aimed to determine the prevalence of CD in Saudi Down syndrome patients using serological markers and small bowel biopsy. This is a retrospective study in which files relating to Down syndrome patients who were followed up in a general pediatric clinic at King Faisal Specialist Hospital and Research Center were reviewed regarding demographic data, serological markers and biopsy results. Of the total number of patients reviewed (91), 7 were excluded because data were missing; the remaining 84 patients included 35 females and 49 males. The age range of the patients at the time of screening was from 1 to 18 years. Patient demographic data are shown in Table 1. Among the studied patients, antigliadin antibody (AGA) IgA was high in 27 patients (32.14%), and AGA IgG was high in 44 patients (52.38%). Twelve patients (14.28%) tested positive and 58 (69.04%) tested negative for anti-endomysial antibodies. Anti-tissue glutaminase antibody IgA was found to be high in 13 patients (15.5%) and normal in 54 patients (64.28%). Serum IgA levels were normal in 36 patients (43%) and low in 1 patient (1.2%). Biopsy was performed in 22 patients who tested positive for anti-endomysial or anti-tissue transglutaminase antibodies. The biopsies provided positive results in 9 patients (10.7%). Our study showed a confirmed prevalence of 10.7% for celiac disease in Saudi patients with Down syndrome based on serology and biopsy; together with previous cases reported in the literature, this result indicates a need to screen these patients for celiac disease.