The association of inflammatory bowel disease and Mediterranean fever gene (MEFV) mutations in Turkish children

Dig Dis Sci. 2010 Dec;55(12):3488-94. doi: 10.1007/s10620-010-1178-5. Epub 2010 Mar 21.


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.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Colitis, Ulcerative / genetics*
  • Consanguinity
  • Crohn Disease / genetics*
  • Cytoskeletal Proteins / genetics*
  • DNA Mutational Analysis
  • Familial Mediterranean Fever / epidemiology
  • Familial Mediterranean Fever / genetics*
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Infant
  • Male
  • Mutation
  • Prevalence
  • Pyrin
  • Seroepidemiologic Studies
  • Severity of Illness Index
  • Turkey / epidemiology


  • Cytoskeletal Proteins
  • MEFV protein, human
  • Pyrin