Tekrarlayan Venöz Tromboemboli’ye Trombofilik Gen Mutasyonunun Etkisi: Geriye-Dönük Kesitsel Bir Araştırma

Bu çalışmanın amacı, trombofilik gene mutasyonu (TGM) tipi ve birlikteliği açısından tekrarlayan venöz tromboemboli (rVTE) hastalarında risk faktörlerinin etkinliğinin değerlendirilmesidir. Geriye-yönelik ve kesitsel olarak tasarlanan bu çalışma, 2008-2009 yılları arasında gerçekleştirildi. TGM açısından tetkik edilen VTE hastaları çalışmaya alındı. Toplam 109 hastada ilk VTE atak yaşı ortalaması 42.6±14.1 yıl idi. Ellidokuz (%54.1) hasta erkekti. Otuzüç (%30.3) hastada birincil VTE mevcut iken 46 (%42.6) hastada rVTE bulunmaktaydı. Tek değişkenli analizde artmış rVTE oranı ile belirgin birliktelik gösteren değişkenler yaş ≥40 yıl, ilk atağın hastane-içi’nde olması, malignite, dahili hastalık, TGM, faktör V Leiden ve protrombin G20210A mutasyonu idi. Farklı mutasyon sayılarının rVTE için analizi, mutasyonu olmayan ve tek gen mutasyonu olan hastalar haricinde belirgin farklılık göstermektedir. Ek olarak, artan hasta başına klinik risk faktörü ve TGM sayısı rVTE ile hem tek değişkenli hem de çok değişkenli analizlerde belirgin ilişkili saptandı. Tekrarlayan VTE açısından TGM’ları, rVTE riskini arttırmakta, ancak tek başlarına önemli bir rol oynamıyor gibi görünmektedir. Ancak, TGM da dahil olmak üzere klinik risk faktörlerinin eş zamanlı birlikteliği, rVTE’nin öngörüsünde daha önemli görünmektedir.

Anahtar Kelimeler:

Venöz tromboemboli, Tekrarlayan, Faktör V Leiden, Protrombin G20210A, Metilentetrahidrofolat redüktaz C677T, Metilenttrahidrofolat redüktaz A1298C

The Influence of Thrombophilic Gene Mutation on Recurrence of Venous Thromboembolism: A Retrospective Cross-Sectional Study

The aim of this study is to evaluate the influence of the risk factors from the point of thrombophilic gene mutations (TGM) with type and inter-cooperation’s on recurrence in venous thromboembolism (VTE) patients.This retrospectively and cross-sectionally designed study was conducted between 2008–2009. The VTE patients, who were evaluated for TGM were elected. Among a total of 109 patients, the mean age at first VTE event was 42.6±14.1 years. Fifty-nine (54.1%) patients were male. While 33 (30.3%) patients had primary VTE, 46 (42.2%) patients had recurrent VTE (rVTE). In the univariate analysis, the significant variables associated with the increased rate of rVTE were age ≥40 years, first event at in-hospital, malignancy, internal medical disease, TGM, factor V Leiden, prothrombin G20210A. The analyses of different mutation count on rVTE pointed that, there were significant differences in recurrence rates, except groups with no mutation and one mutation. Additionally, with the increasing number of clinical risk factors and TGM per case were considerably associated with rVTE in both univariate and multivariate analysis. Regarding the risk of rVTE, the TGMs were significant but do not appear to play a vital role per se. However, simultaneous existence of clinical risk factors, including TGM seem to be more important for the prediction of rVTE.

Keywords:

Venous thromboembolism, Recurrence, Factor V Leiden, Prothrombin G20210A, Methylenetetrahydrofolate reductase C677T, Methylenetetrahydrofolate reductase A1298C,

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