title: Celiac disease in patients with Williams-Beuren syndrome.
abstract: Celiac disease is an autoimmune, gastrointestinal disorder characterized by intolerance to the dietary grain protein gluten. An increased prevalence of celiac disease has been reported in Down syndrome and Turner syndrome, but there has been only few previous reports with respect to the association of celiac disease in Williams-Beuren syndrome. The aim of this study was to evaluate the frequency of celiac disease in our 24 Williams-Beuren syndrome patients. Gastrointestinal problems and celiac disease symptoms of patients were noted. All patients were analyzed by the titer of tissue transglutaminases IgA and IgG. HLA genotyping and intestinal biopsy was performed to the patients with positive serology. We also performed gluten free diet in the presence of compatible symptoms, serology, HLA genotyping and intestinal biopsy. In our study, two patients had positive tTG antibodies, but only one had positive biopsy finding for celiac disease. The frequency of celiac disease in patients with Williams-Beuren syndrome was estimated as 1/24 (4.1%). Though the number of participants in this study was limited, the results show that the frequency of celiac disease is higher in Williams-Beuren syndrome compared to the general population. We suggest that a high suspicion and testing for celiac disease should be recommended at certain intervals in all cases with Williams-Beuren syndrome to detect the cause of growth retardation and gastrointestinal problems.
authors.affiliation: Divisions of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey. emihci@akdeniz.edu.tr.
authors.forename: Ercan
authors.initials: E
authors.lastname: Mıhçı
authors.forename: Banu Güzel
authors.initials: BG
authors.lastname: Nur
authors.forename: Sibel
authors.initials: S
authors.lastname: Berker-Karaüzüm
authors.forename: Aygen
authors.initials: A
authors.lastname: Yılmaz
authors.forename: Reha
authors.initials: R
authors.lastname: Artan
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002446:Celiac Disease / Q000150:complications* / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000150:complications; D005260:Female; D019204:GTP-Binding Proteins / Q000097:blood; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D015995:Prevalence; D000091345:Protein Glutamine gamma Glutamyltransferase 2; D011503:Transglutaminases / Q000097:blood; D018980:Williams Syndrome / Q000150:complications*; D055815:Young Adult
chemical_list: D006680:HLA Antigens; D007070:Immunoglobulin A; D007074:Immunoglobulin G; D000091345:Protein Glutamine gamma Glutamyltransferase 2; D011503:Transglutaminases; D019204:GTP-Binding Proteins