Background Crohn’s disease and ulcerative colitis are multifactorial and heterogeneous, chronically relapsing inflammatory bowel diseases (IBD) that are thought to result from a dysregulated mucosal immune response to gut lumen bacterial antigens in a genetically susceptible host (1). Additional clinical and epidemiological evidence supported MEFV as a potential IBD candidate gene. Familial Mediterranean fever (FMF) and IBD share common clinical and biologic features; they are both inflammatory disorders characterized by the same chronic relapsing behavior, infiltration by neutrophils at the site of injury, and abnormal regulation of apoptosis (2,3).
Objectives Incidense of these two disease in Turkish children, relation with the existing MEFV gene mutation, prognosis of the disease and response to the treatement and accompanying laboratory findings were evaluated.
Methods Patients who have two or more of these symptoms which are fever, abdominal pain, chest pain, arthritis and family history of FMF are diagnosed as FMF according to criterias defined in 2009 (4).We evaluated complaints, physical examinations, MEFV gene mutations,erythrocyte sedimantation rate,C reactive protein,complete blood counts of the FMF patients during the first admission to our clinic.In order to evaluate IBD colonoscopy was applied to the patients if they had any of these findings which are bloody stool, chronic diarrhea, abdominal pain inappropriate for FMF, positive ASCA IgA, IgG and pANCA.Diagnosis of IBD was made according to the colonoscopy findings and histopathological study of the biopsy samples.
Results 46% of patients was male, FMF diagnostic age was 7.5±3.4 year,application age was 9.75±4.8 year.M694V, M680I, E148Q, R202Q, K695R mutations of MEFV gene were studied in all patients.One of these mutations was positive in 84% of the patients.Colonozcopy applied to 15 patients who have complaints of abdominal pain inappropriate to FMF,chronic diarrhea, bloody diarrhea and/or positive pANCA, ASCA and biopsy samples were taken.6 patients had moderate and 3 patients had mild colitis findings on histopathologic samples.All of the 9 patients have MEFV gene mutation.M694V homozygote mutation was found in 3 of these 9 patients.M694V heterozygote mutation in 1 patient,K695R homozygote mutation in 1,K695R heterozygote mutation in 1,M680I heterozygote in 1 and E148Q heterozygote mutation in 1 patient were detected.
Conclusions The incidence of IBD during childhood increases if patients have FMF disease. This result suggests that either of these diseases accompany frequently or they are parts of the whole which is consisting of the same genetic mutations.
Podolsky DK (2002) Inflammatory bowel disease. N Engl J Med 347: 417–29.
Lichtenberger GS, Flavell RA, Alexopoulou L. Innate immunity and apoptosis in IBD. Inflamm Bowel Dis 2004; 10: 58–62.
McDermott MF (2004) A common pathway in periodic fever syndromes. Trends Immunol 2004; 25: 457–60.
Yalçınkaya F, Özen S, Özçakar ZB et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology 2009; 48: 395-98.
Disclosure of Interest None Declared
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