The investigation of factor V leiden in young adult patients with thrombosis

Abstract

Trombosis is a common multifactorial disease, known to be associated with a number of acquired and inherited factors. Resistance to activated protein C is a common inherited risk factor for thrombosis, which is associated with a mutation in coagulation factor V (FV Leiden). The aim of this study is to determine the prevlence of FV Leiden in young adult patients with various thrombotic states. We determined the FV Leiden genotype in patients aged less than 40 years with a objectively confirmed thrombosis and healthy controls. A significant difference in the allelic frequency of the Arg 506 Gin factor v mutation was found between thrombotic patients (n = 40; allelic frequency 12.5%) and healthy controls (n = 55; allelic frequency 1.8 %). This difference was statisticaly significant (P = 0.0028). It was calculated that the risk of thrombosis was increased 8-fold. In conclusion, the presence of FV Leiden was associated with an increased risk of thrombosis, particularly primary venous and arterial thrombosis. The risk of recurrence after a thrombotic event is higher in patients with homozygous FV Leiden than in controls. Long term anticoagulant treatment can generally be recommended for homozygous patients with a single thrombotic event.

Özet

Tromboz, primer ya da sekonder birçok sebebin eşlik ettiği bir haastalıktır. Faktör V genindeki bir mutasyon olan FV Leiden'in sebep olduğu aktive protein C direnci tromboz için bir risk faktörüdür. Bu çalışmanın amacı trombotik atak geçiren genç erişkin hastalarda FV Leiden sıklığını belirlemektir. Bu çalışmada 40 yaşın altında tromboz saptanan hastalar ile yaş ve cinsiyet farkı olmayan sağlıklı kontrol olgularında FV Leiden genotipi belirlenmiştir. Arg 506 Gln FVmutasyonu allel sıklığında hasta grubu (n = 40, allel sıklığı % 12.5) ile kontrol grubu (n = 55, allel sıklığı % 1.8) arasında istatistiksel olarak belirgin fark bulunmuştur (p = 0.0028). Tromboz riskinin FV Leiden olanlarda 8 kat arttığı hesaplanmıştır. Sonuç olarak FV Leiden varlığı özellikle primer venöz ve arteryel tromboz riskini artırmaktadır. Homozigot FV Leiden saptanan olgularda trombotik atağın tekrarlama riski de yüksek bulunmuştur. Tek trombotik atak geçiren homozigot olgularda uzun süreli antikoagülan tedavi önerilebilir.