MUAMMER BİLİCİ, İBRAHİM İLKER ÖZ, Sevil İLİKHAN UYGUN, Müzeyyen ARSLANER, Elif KAHRAMAN, Beyza KILAVUZ, Zeynep ÖZDAMAR, ŞEHMUS ERTOP

Venöz tromboemboli yerleşim yeri üzerine Faktör V Leiden, Protrombin G20210A ve MTHFR C677T Gen mutasyonlarının belirleyici rolü

Amaç: Venöz tromboembolizmin (VTE) kalıtsal etyolojik nedenleri arasında en sık görülen faktör V Leiden (FVL), Protrombin G20210A (PTM) ve Metilentetrahidrofolat redüktaz (MTHFR) C677T gen mutasyonları ile tromboz yerleşim bölgeleri arasındaki ilişkinin değerlendirilmesi. Yöntemler: Yüz kırk dört idiopatik VTE hastasında FVL, PTM ve MTHFR gen mutasyonu geriye dönük alarak tarandı. Hastalar tromboz bölgelerine göre pulmoner emboli (PE), derin ven trombozu (DVT), PE ile DVT birlikteliği, serebral (SVT) ve intraabdominal ven trombozu olarak gruplandırıldı. Genetik mutasyonlar ile VTE lokalizasyonları arasındaki ilişki analiz edildi. Bulgular: Hastaların ortalama yaşı 41,16±13,23 yıl ve erkek/kadın oranı 1,18 idi. VTE bölgelerine göre hastaların 44 (%30,6)ü sadece DVT, 41 (%28,5)i sadece PE, 26 (%18,1)sı DVT ile PE birlikteliği, 23 (%16)ü SVT ve 10 (%6,9)u karın içi bölgesinde tromboz gelişmiş olanlar idi. Toplamda hastaların %46,5şinde FVL mutasyonu,%13,2sinde PTM ve %45,1inde MTHFR gen mutasyonu tespit edildi. Genetik mutasyonlarla tromboz bölgesi arasında istatistiksel anlamlı bir ilişki gözlenmedi (p>0,05). Sonuç: Venöz tromboembolizmin için bilinen risk faktörlerinden genetik mutasyonlar, tromboz oluşum yerinin belirlenmesinde bağımsız birer risk faktörü değildir.

The predictive value of factor V Leiden, prothrombin G20210A and MTHFR C677T Gene mutations on the location of venous thromboembolism

Objective: In the present study, we aimed to consider the relation between the manifestations of venous thromboembolism (VTE) and gene mutations including factor V Leiden (FVL), prothrombin G20210A and MTHFR C677T. Methods: One hundred and forty four patients with idiopathic VTE were enrolled in this study. The data of patients were obtained from the medical records in hospital information system. The patients were grouped according to the location of VTE. In all subjects FVL, prothrombin G20210A, and MTHFR C677T were analyzed by specific polymerase chain reactions and restriction enzymes. Univariate and multivariate analysis were used to evaluate the relation between the groups and the gene mutations including factor V Leiden (FVL), prothrombin G20210A and MTHFR C677T. Results: The mean age of patients was 41.16 ± 13.23 years and the male / female ratio was 1.18. Among the patients with VTE, 44 (30.6%) had only DVT, 41 (28.5%) had only PE, 26 (18.1%) had both DVT and PE, 23 (16%) had cerebral veins thrombosis (CVT) and 10 (6.9%) had abdominal vein thrombosis The prevalence was found to be 46.5% for FVL, 13.2% for prothrombin G20210A and 45.1% for MTHFR C677T gene mutation among patients. There was no statistically difference between the manifestations of VTE regarding the gene mutations (p>0,05). Conclusion: The findings of this study suggest that gene mutations including factor V Leiden (FVL), prothrombin G20210A and MTHFR C677T are not sufficient to determine the location of VTE

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