Abstract:

In this study, it was aimed to compare the Mediterranean Fever (MEFV) gene mutations and familial Mediterranean fever (FMF)-related clinical findings between radiographic and non-radiographic axial spondyloarthritis (ax-SpA) patients with FMF disease. In the study, the charts of the patients who were followed up with a diagnosis of FMF disease between January 2015 and July 2020 were retrospectively examined. Genetic examinations, clinical findings and x-ray graphs and magnetic resonance imaginations of the sacroiliac joints were examined. According to The Assessment of Spondyloarthritis International Society (ASAS) criteria, ax-SpA patients were grouped as radiographic and non-radiographic, and the findings were compared between the groups. A total of 36 patients (24 radiographic, 12 non-radiographic) with ax-SpA were included in the study. Human leukocyte antigen (HLA) B27 genetic test results were negative in all 11 patients with ax-SpA whose test results were available. Clinical findings, colchicine response, and family history were not different between radiographic and non-radiographic ax-SpA patients. The phenotypic frequency of the M694V mutation was 91.7% and 50.0% among the radiographic and non-radiographic ax-SpA groups, respectively (p = 0.005). The phenotypic frequency of the V726A mutation was 0% and 25.0%, among the radiographic and non-radiographic ax-SpA groups, respectively (p = 0.011). As a result, FMF clinical findings are not different among subgroups of ax-SpA accompanying FMF. M694V mutation is more common in the SpA subgroup where X-ray findings are evident, and the V726A mutation is more common in the SpA subgroup with no X-ray findings, and these mutations may play a role in the etiology of the SpA subgroups in which they are common.

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