The prevalence of FMF gene mutations in patients with ulcerative colitis and its impact to clinical course

Ulcerative colitis (UC) is an in ? ammatory disease of the colonic mucosa with involvement from distal to proximal and the pathogenesis of the disease is still unclear. Aminosalicylic acid, corticosteroids, immunosuppressants and biologic agents are the most used drugs for the therapy. The current state of therapy for patients with UC is not very satisfactory. Familial Mediterranean fever (FMF) is the prototype of the periodic in ? ammatory clinical syndromes, characterized by acute episodes of fever and in ? ammation painful in the abdomen, chest and joints. Colchicine is the mainstay of the therapy for the disease.The previous studies confirm that inflammation is frequently present in relatives with gene mutations of the patients with FMF. In our study, we aim to determinate the prevalence of FMF gene mutations in patients with ulcerative colitis and its impact to clinical course.Four groups were formed. Group 1 UC with distal disease, group 2 UC with pancolonic disease, group 3 UC with total colectomy and group 4 Rheumatoid Arthritis (RA). Exon 2 (E148Q), Exon 3 (P369S), Exon 5 (F479L) and Exon 10 (M694V, M694I, 692del, K695R, M680I, V726A, A744S, R761H) FMF gene mutations were determined in all patients.The mean age of group 1, group 2, group 3 and group 4 were 46.7 ? 13.9, 43.8 ? 12.9, 44.8 ? 14.2 and 45.8 ? 10.9 years, respectively. Statistically differences were not found between groups for gender and age. We found that the number of steroid used exacerbations increased with the severity of the UC (p<0.0001).Mutations were identified in 19 of the 54 patients with UC (35.2%). Mutation analysis of 19 patients showed homozygous E148Q in 2 patients (3.7%) and heterozygous in 17 patients (31.5%) (E148Q in 6 patients, M694V in 3 patients, V726A in 3 patients, K695R in one patient, M680I in one patient and compound heterozygous for different combinations of the mutations in 3 patients. Frequencies of FMF gene mutations in group 1, 2 and 3 were 30%, 27.3% and 58.3% respectively. Mutations were identified in 3 of the 20 patients with RA (15%). All of them were heterozygous (E148Q in 2 patients, P369S in one patient). We found that the rate of FMF gene mutations were higher in group 3 than in group 4 (p=0,018).The rate of male/female in patients with UC (have FMF gene mutations) were 11/8 (57.9 % / 42.1 %). This ratio in patients with UC (have not FMF gene mutations) were 24/11 (68.6 % / 31.4%)In conclusion, we found that FMF gene mutations may be identified in patients with UC up to 58.3%. It may be suggest that the UC patients with severe forms should be identified for FMF gene mutations.