title: Celiac disease in Williams-Beuren syndrome.
abstract: 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.
authors.affiliation: Units of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Pelin Ozlem
authors.initials: PO
authors.lastname: Simşek-Kiper
authors.forename: Yavuz
authors.initials: Y
authors.lastname: Sahin
authors.forename: Umut
authors.initials: U
authors.lastname: Arslan
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
authors.forename: Koray
authors.initials: K
authors.lastname: Boduroğlu
authors.forename: Diclehan
authors.initials: D
authors.lastname: Orhan
authors.forename: Hasan
authors.initials: H
authors.lastname: Ozen
authors.forename: Gülen Eda
authors.initials: GE
authors.lastname: Unite
mesh_terms: D000293:Adolescent; D000328:Adult; D001323:Autoantibodies / Q000097:blood; D015415:Biomarkers / Q000097:blood*; D001706:Biopsy; D002446:Celiac Disease / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology*; D002648:Child; D002675:Child, Preschool; D016145:Endoscopy, Digestive System; D005260:Female; D019204:GTP-Binding Proteins / Q000097:blood; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007223:Infant; D008297:Male; D015995:Prevalence; D000091345:Protein Glutamine gamma Glutamyltransferase 2; D011503:Transglutaminases / Q000097:blood; D014421:Turkey / Q000453:epidemiology; D018980:Williams Syndrome / Q000150:complications*; D055815:Young Adult
chemical_list: D001323:Autoantibodies; D015415:Biomarkers; D007070:Immunoglobulin A; D000091345:Protein Glutamine gamma Glutamyltransferase 2; D011503:Transglutaminases; D019204:GTP-Binding Proteins