Abstract:

Purpose: This study aims to analyze the genetic characteristics of patients diagnosed with AAA and to evaluate the relationship of AAA with systemic diseases. In the study, the data of 277 AAA patients applying for internal diseases and physiotherapy clinics at Tokat Gaziosmanpaşa University between January 2015 and May 2018 were reverse assessed. The gender, age, AAA symptoms, accompanying systemic diseases and mutation analyses of all patients were recorded. Results: 176 of the 277 AAA patients included in the study were women (63.5%) and 101 (36.5%) men. The average age of patients was 33.6±11.8. Mutation analysis was achieved in 170 (61%) of 277 AAA patients. 161 (95%) of patients were diagnosed with mutation. The most frequently detected mutations were M694V (58.2%), while R202Q (27.6%) and V726A (18.2%) were other frequent mutations. In 36 of 277 AAA patients (13%), an accompanying systemic patient was diagnosed with ankylosan spondylitis (7 patients), while the most common was ankylosan spondylitis. The result: AAA is a disease that is common in our country and is difficult to diagnose. It is an auto-inflammatory disease and can be associated with various inflammatory diseases and vasculitis. Mutations in the MEFV genes are detected in the vast majority of the events. The results of this study showed the heterogenity in the MEFV gen mutation and that patients in our region have a wide variety of mutations.

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