Exploring Inflammatory Bowel Disease in Familial Mediterranean Fever Patients: Insights From a Retrospective Study

Background In light of the accepted association between familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD), as well as the limited previous research on this subject, this study aimed to investigate the prevalence of IBD among individuals diagnosed with FMF and to explore the clinical features and genetic mutations present in FMF patients with IBD. Methods The study was conducted among patients diagnosed with FMF between 2006 and 2022. Patients diagnosed with IBD were included. Patient records were reviewed for demographic data, presenting symptoms and their duration, laboratory results at the time of initial diagnosis and during follow-up, colonoscopy findings, treatments administered, and post-treatment follow up colonoscopy results. Results Among 1176 patients diagnosed with FMF, 9 patients (0.76%) also diagnosed with IBD were included in the study. Genetic analysis showed that all patients had a detected MEFV gene mutation, with the M694V mutation being the most frequently observed. Approximately 44% of FMF and IBD patients exhibit homozygosity for the M694V mutation. Among 1122 FMF patients analyzed for MEFV gene mutations, 19% were homozygous for this variant. The frequency of the M694V homozygous mutation is higher in patients with both IBD and FMF compared to those with only FMF (p = 0.079). In the patients with IBD, diarrhea was the most common presenting complaint. Fever attacks accompanied by abdominal pain were observed in all patients. Further investigations through colonoscopy were conducted on 9 patients, revealing inflammation in the colonic mucosa in the majority (66%). All patients had been receiving colchicine. Methylprednisolone, mesalamine, azathioprine, tumor necrosis factor (TNF) inhibitors, and interleukin-1 (IL-1) inhibitors were among the treatments administered. Following the treatment, all patients experienced a reduction in symptoms, and acute phase reactants were found to be negative in all except one (6.6%). Conclusion The prevalence of IBD is increased in FMF patients with M694V homozygous mutation. Therefore, careful monitoring and thorough evaluation, including colonoscopies, are crucial for assessing IBD risk in these individuals.