Original Article

Digestive Diseases and Sciences

, Volume 55, Issue 12, pp 3488-3494

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

  • Nuray UsluAffiliated withDepartment of Pediatrics, Gastroenterology, Hepatology and Nutrition Unit, Faculty of Medicine, Hacettepe University Email author 
  • , Aysel YüceAffiliated withDepartment of Pediatrics, Gastroenterology, Hepatology and Nutrition Unit, Faculty of Medicine, Hacettepe University
  • , Hülya DemirAffiliated withDepartment of Pediatrics, Gastroenterology, Hepatology and Nutrition Unit, Faculty of Medicine, Hacettepe University
  • , Inci N. Saltik-TemizelAffiliated withDepartment of Pediatrics, Gastroenterology, Hepatology and Nutrition Unit, Faculty of Medicine, Hacettepe University
  • , Yusuf UstaAffiliated withDepartment of Pediatrics, Gastroenterology, Hepatology and Nutrition Unit, Mersin University
  • , Engin YilmazAffiliated withDepartment of Medical Biology, Faculty of Medicine, Hacettepe University
  • , Nesrin BeşbaşAffiliated withDepartment of Pediatrics, Nephrology and Rheumatology Unit, Faculty of Medicine, Hacettepe University
  • , Figen GürakanAffiliated withDepartment of Pediatrics, Gastroenterology, Hepatology and Nutrition Unit, Faculty of Medicine, Hacettepe University
  • , Hasan ÖzenAffiliated withDepartment of Pediatrics, Gastroenterology, Hepatology and Nutrition Unit, Faculty of Medicine, Hacettepe University
    • , Seza ÖzenAffiliated withDepartment of Pediatrics, Nephrology and Rheumatology Unit, Faculty of Medicine, Hacettepe University

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Abstract

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.

Keywords

Inflammatory bowel disease MEFV mutation FMF Children