Abstract:

Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent episodes of fever and serositis due to mutations in the 10-exon Mediterranean Fever (MEFV) gene. Mutation positivity at the exon 10 site is associated with the typical clinical phenotype and disease complications such as amyloidosis and renal failure. In our study, we aimed to determine the relationship between the presence of a mutation in the 10th exon and the clinical features and complications. The files of 354 patients who were followed up in the rheumatology clinic of our hospital between January 2015 and August 2023 with a diagnosis of FMF were analyzed retrospectively. The patients were divided into two groups depending on the presence of a mutation in exon 10. Male sex ratio, abdominal pain, frequency of amyloidosis, creatinine, neutrophil and c-reactive protein levels in the attack-free period were significantly higher in the group with positive mutation in exon 10 (p=0.044, p=0.039, p<0.001, p=0.028, p=0.015, p=0.030, respectively). Clinical and laboratory features differ in patients with a positive mutation in exon 10, and close monitoring of these patients can reduce disease-related complications.

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