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Fırat Tıp Dergisi
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Genetic Characteristics of Familial Mediterranean Fever and Its Relationship with Systemic Diseases
Ayşe Kevser DEMİR1, Hülya DEVECİ2, Zeliha Cansel ÖZMEN3, Ayşe KEFELİ4, Şafak ŞAHİN1, Türker TAŞLIYURT1, Köksal DEVECİ3
1Tokat Gaziosmanpaşa Üniversitesi, İç Hastalıkları Anabilim Dalı, Tokat, Türkiye
2Tokat Gaziosmanpaşa Üniversitesi, Fizik Tedavi ve Rehabilitasyon Anabilim Dalı, Tokat, Türkiye
3Tokat Gaziosmanpaşa Üniversitesi, Tıbbi Biyokimya Anabilim Dalı, Tokat, Türkiye
4Tokat Gaziosmanpaşa Üniversitesi, Gastroenteroloji Anabilim Dalı, Tokat, Türkiye

Objective: This study aims to analyze the genetic characteristics of patients with familial Mediterranean fever (FMF) and to evaluate the relationship between FMF and systemic diseases.

Material and Method: In this study, data of 277 AAA patients who applied to the Internal Medicine and Physical Therapy outpatient clinics of Tokat Gaziosmanpaşa University between January 2015 and May 2018 were evaluated retrospectively. Gender, age, FMF symptoms, concomitant systemic diseases and mutation analyzes were recorded.

Results: Of the 277 AAA patients included in the study, 176 (63.5%) were female and 101 (36.5%) were male. The mean age of the patients was 33,6±11,8 years. A total of 170 (61%) of the FMF patients had a mutation analysis. Of them, 161 (95%) patients had mutation. The most common detected mutation was M694V (58.2%), while R202Q (27.6%) and V726A (18.2%) were the other common mutations. In 36 of 277 AAA patients (13%), a concomitant systemic disease was found, while the most common was Ankylosing spondylitis (7 patients).

Conclusion: FMF is a common disease in our country. It is an autoinflammatory disease and may be associated with various inflammatory diseases and vasculitis. Mutations in the MEFV gene are detected in the majority of cases. The results of this study supported the heterogeneity of MEFV gene mutation and showed that patients in our region had a wide variety of mutations.


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