Evaluation of the health status of patients diagnosed with familial mediterranean fever with M694V homozygous mutation

Objective: In our study, we aimed to evaluate the health status of our patients diagnosed with Familial Mediterranean Fever (FMF) with M694V homozygous mutation based on age, gender, clinical symptoms, treatments used, comorbidities, and development of amyloidosis. Materials and methods: In our study, 183 male and female patients with M694V homozygous mutation who were 18 years of age or older and whose data were available and who were admitted to Ondokuz Mayıs University Faculty of Medicine Hospital between January 2014 and December 2022 and diagnosed with FMF were included. The data of the patients were analyzed retrospectively. Patient data were accessed via patient information system, e-pulse and telephone. Results: Of the 183 patients included in the study, 99 were male and 84 were female. The mean age at the onset of the first complaint was 13.66±10.6 years. The mean age at diagnosis was 19.5±14.05 years. The most common clinical symptom was abdominal pain with 78.7%. This was followed by arthralgia with 68.3% and arthritis with 39.9%. Proteinuria was seen in 22.4% of patients, while the percentage of amyloidosis was 7.1%. Rheumatologic-inflammatory diseases accompanied 24% of the patients. The most common comorbidity was ankylosing spondylitis with 4.9%. The percentage of colchicine use was 94%. The number of patients receiving IL-1 antagonists (anakinra, canakinumab) was 40 (21.8%). The number of patients receiving TNF-alpha inhibitors (golimumab, etanercept, certazilumab) was 7 (3.7%). 32 of our 183 patients had a history of laparoscopic surgery. 8 of our patients were deceased. 5 of them had developed amyloid. 4 of them were renal transplants. Discussion and Conclusion: In evaluating the health status of patients with M694V homozygous mutation, it is important to examine the clinical symptoms, number of attacks, surgical history, comorbidities, treatments received and complication development. The most feared complication in FMF is amyloidosis and therefore colchicine treatment is very important. In line with our study and other studies in the literature, FMF is a diagnosis that should always be kept in mind because it has common clinical findings with many diseases and the development of complications can be prevented with treatment. KEY WORDS: Familial Mediterranean Fever, M694V homozygous mutation, colchicine, proteinuria, amyloidosis