Association of Inflammatory Bowel Disease and Mediterranean Fever Gene (MEFV) Mutations in Turkish Children

• Published in: Digestive diseases and sciences 2010-12, Vol.55 (12), p.3488-3494
• Main Authors: Uslu, Nuray, Yüce, Aysel, Demir, Hülya, Saltik-Temizel, Inci N, Usta, Yusuf, Yilmaz, Engin, Beşbaş, Nesrin, Gürakan, Figen, Özen, Hasan, Özen, Seza
• Format: Article
• Language: English
• Subjects: Adolescent; Biochemistry; Biological and medical sciences; Child; Child, Preschool; Children; Children's furniture; Colitis, Ulcerative - genetics; Consanguinity; Crohn Disease - genetics; Cytoskeletal Proteins - genetics; Diseases; DNA Mutational Analysis; Ethylenediaminetetraacetic acid; Familial Mediterranean fever; Familial Mediterranean Fever - epidemiology; Familial Mediterranean Fever - genetics; Feeding. Feeding behavior; Female; Fundamental and applied biological sciences. Psychology; Gastroenterology; Gastroenterology. Liver. Pancreas. Abdomen; Genetic aspects; Genetic Predisposition to Disease - epidemiology; Genetic Predisposition to Disease - genetics; Hepatology; Humans; Immunosuppressive agents; Infant; Inflammatory bowel disease; Male; Medical sciences; Medicine; Medicine & Public Health; Mutation; Oncology; Original Article; Other diseases. Semiology; Prevalence; Prevalence studies (Epidemiology); Pyrin; Seroepidemiologic Studies; Severity of Illness Index; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Transplant Surgery; Turkey - epidemiology; Ulcerative colitis; Vertebrates: anatomy and physiology, studies on body, several organs or systems
• ISSN: 0163-2116; 1573-2568
• DOI: 10.1007/s10620-010-1178-5

Background and Aims Familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD) concordance has been investigated in a few studies. We investigated MEFV mutations and prevalence of FMF disease in Turkish children with IBD and their relationship with the disease severity. Methods Sixteen patients with ulcerative colitis (UC), 14 with Crohn's disease (CD) and three with indeterminate colitis (IC) were enrolled in the study (median age 13 years, range 0.6-16 years, n = 19 boys). Demographic, clinical and laboratory characteristics of the patients were evaluated as well as the parameters of disease severity. All patients were screened for 12 common MEFV mutations. Results MEFV mutations were detected in 17 of 66 (25.7%) alleles. Seven patients (four patients with CD, two with IC, and one with UC) were also diagnosed as FMF. FMF disease was found in seven of all IBD patients (21.2%) and four of them had CD. M694V was the leading mutation, and as a disease-causing mutation, it was found to be significantly more frequent in CD patients than UC patients (Fisher's exact test P = 0.03). Demographics, laboratory evaluations, growth parameters, extraintestinal manifestations, and treatment with immunosuppressive agents other than steroids were comparable between the patients with and without FMF in most aspects. Conclusions Although this is a small cohort, disease-causing MEFV mutations and FMF disease rate were increased among our patients with IBD. The increase was prominent among CD patients, whereas in UC the rate was similar to the Turkish healthy control population.