Frequency and clinical significance of fmf gene mutation in adult patients with inflammable bowel disease

Aim: Inflammatory Bowel Disease is an idiopathic, chronic, uncontrolled inflammation of the intestinal mucosa with periods of relapse and remission, including Ulcerative Colitis and Crohn's disease. Our study aimed to investigate the frequency of MEFV gene mutations in adult patients diagnosed with Inflammatory Bowel Disease and their effect on the clinical course of Inflammatory Bowel Diseaase. Method: Patients who applied to Zonguldak Bülent Ecevit University (ZBEÜ) Faculty of Medicine Hospital Gastroenterology Polyclinic between January 2002 and December 2023, were over 18 years old, were diagnosed with UC or CD, and had MEFV gene mutation testing performed to screen for FMF disease were icluded in the study. Laboratory, colonoscopy, symptom, and activity information of the patients were evaluated retrospectively from the hospital data system. Results: A total of 89 patients (44 UC, 45 CD) who were tested for MEFV gene mutation were icluded in the study. MEFV gene mutation was detected in 35 (39.3%) of 89 patients diagnosed with IBD. Of the 35 IBD patients with MEFV gene mutation, 12 (13.4%) were found to be FMF patients and 23 (25.8%) were FMF carriers. When patients diagnosed with UC and CD were compared in terms of the frequency of MEFV gene mutation, although MEFV gene mutation was more common in patients diagnosed with CD in our study, no statistical difference was detected between them. In our study, the presence of MEFV gene mutation and mutation sybtype differences were not found to cause significant clinical and laboratory differences. Conclusion: Although the frequency of MEFV gene mutation in patients diagnosed with IBD in our study was found to be higher than the frequency of MEFV gene mutation in the Turkish Society, the statistical relationship could not be evaluated because we did not have a control group. When evaluated together with the data in the literature, it can be thought that MEFV gene mutation is detected more frequently in patients diagnosed with IBD than in the general population. Although studies have not been able to reach common conclusions regarding the clinical reflection of the presence of MEFV gene mutation in patients diagnosed with IBD, in our study it was not determined that the presence of MEFV gene mutation caused a significant clinical and laboratory difference.