The Turkish Journal of Pediatrics 2014 , Vol 56 , Num 2
Celiac Disease in Williams-Beuren Syndrome
Units of 1Pediatric Genetics, 5Pediatric Pathology, and 6Pediatric Gastroenterology-Hepatology, Department of Pediatrics, and Departments of 2Medical Genetics, and 3Biostatistics, Hacettepe University Faculty of Medicine, Ankara, and 4Pediatric Genetics Unit, Department of Pediatrics, Acıbadem University Faculty of Medicine, İstanbul, Turkey. E-mail: Celiac disease was previously reported to be frequent among individuals with Williams-Beuren syndrome; however, this suggestion was not investigated further. The present study was conducted to estimate the prevalence of celiac disease in a group of Turkish individuals with Williams-Beuren syndrome (n=33, age range: 1-24 years) by using anti-tissue transglutaminase immunoglobulin (Ig)A and IgG, anti-endomysium IgA, and intestinal biopsy in individuals with positive serology. The prevalence of celiac disease in this population was compared to its prevalence among healthy Turkish schoolchildren. Of all participants, celiac disease was diagnosed in one patient. Although statistically insignificant (p=0.145), the prevalence of celiac disease was higher among individuals with Williams-Beuren syndrome (3%) than among healthy Turkish schoolchildren (0.47%). We recommend questioning individuals with Williams-Beuren syndrome during routine visits regarding celiac disease symptoms and performing serological screening when consistent symptoms are present. Anti-tissue transglutaminase and anti-endomysial antibodies may help to identify those individuals in whom intestinal biopsy is indicated for the diagnosis of celiac disease. Keywords : Williams-Beuren syndrome, celiac disease, anti-tissue transglutaminase antibodies, anti-endomysium IgA, esophagogastroduodenoscopy.
Copyright © 2016