Retrospective evoluation of sociodemographig and clinical features of patients diagnosed with familial mediterranean fever

Aim: The study aims at retrospective analysis of socio-demographic and clinical characteristics of Familial Mediterranean Fever (FMF) cases seen in our hospital. Material And Method: One hundred and fifty patients diagnosed with FMF between 2014 and 2022 were included in this study. Data was evaluated retrospectively for age, gender, family history, frequency of attacks, presence of amyloidosis, dosage of colchicin treatment, additional treatments, presence of arthritis, results of MEFV gene analysis, and laboratory values at the time of diagnosis. Results: One hundred and three (68.7%) of the patients were female and 47 (31.3%) were male where their median age was 32 (18-79). Out of 104 patients whose family history was studied, 54 (51.9%) had a positive family history. At the time of diagnosis 91.3% (n=137) had abdominal pain, 62.7% (n=94) had joint pain, 46% (n=69) had fever, and 22.7% (n=34) complained of chestpain. Vasculitiswasconfirmed in seven patients (4.7%) and 7 (4.7%) had amyloidosis. Eight (5.3%) wentthroughappendectomy. Amongthe total patientpopulationdiagnosedwith FMV, 144 (96%) receivedcolchicinetreatment, where as 2 of themweregiven IL-1 antagonist and 1 was put on anti-TNF treatment. MEFV gene mutationanalysiswasconductedfor 107 (71,3%) patients. Of them 40 (37,3%) had heterozygouspositivemutation in M694V gene, 38 (35,5%) in R202Q gene, 27 (25,2%) in V726A gene, and 17 (15.8%) in E148Q gene, while 10 patients (9,3%) had homozygouspositive gene mutation in M694V gene and 2 patients (1,8%) in R202Q gene. No gene mutationwasfound in two patients. Conclusıon: Similartomanyotherrelatedresearch in Turkey, ourfinding in general supporttheavailableliterature data regardingthisdisease. Ourstudypresentsthefindings of ourownmedicalcenterandtheauthorsbelievethesefindingsmaycontributetointernationalretrospectiveresearchbase. Keywords: Familial Mediterranean Fever, MEFV