AİLEVİ AKDENİZ ATEŞİ HASTALARINDA MEFV GEN MUTASYONLARI SIKLIĞININ İNCELENMESİ

İdris Sakcak; Ferhat Bakla; Yusuf Garan; Sibel Yilmaz Oner

doi:10.5281/zenodo.10459605

Authors

İdris Sakcak
Ferhat Bakla
Yusuf Garan
Sibel Yilmaz Oner

DOI:

https://doi.org/10.5281/zenodo.10459605

Abstract

Background: The aim of this study was to investigate the types and distribution of MEFV gene mutations in patients with Familial Mediterranean Fever (FMF) who were followed up in the Rheumatology outpatient clinics of Kartal Dr. Lütfi Kırdar City Hospital.

Method: A total of 282 unrelated patients who were admitted to rheumatology outpatient clinics between 2020 and 2022, diagnosed with FMF according to Tel-Hashomer criteria or newly diagnosed during this period were included in the study. The data of the patients were retrospectively screened through the hospital database. MEFV gene mutations of the patients were identified and recorded.

Results: As a result of the study, only 26.1% of the patients were found to carry homozygous mutations. There was no significant difference between mutation type and gender, age at diagnosis and symptoms at the time of diagnosis. There was no significant difference between the number of attacks in the last year and mutation type. The most common mutations found in FMF patients were M694V, R202Q, M680I, V726A, E148Q and K695R in order of frequency.

Conclusion: The most common mutations found in patients with FMF are M694V, R202Q, M680I, V726A, E148Q and K695R. However, no correlation has been shown between mutations and clinical findings.

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