A Genetical approach to deep venous thrombosis

Abstract

Deep venous thrombosis (DVT) is a common disorder that frequently occurs after surgical procedures and trauma and in the presence of cancer or immobilization conditions. However, it can also develop without any of these predisposing factors. This condition directs the researcher's enquiry to investigating the basis of organismal thrombotic predisposition. The common prothrombotic genetic mutations include factor V Leiden, factor II G20210 A, plasminogen activator inhibitor-1, prothrombin A20210, and factor XIII - VIII. Nevertheless, current studies suggest that the thrombotic events are not connected with single gene deletion or homeostatic regulation is also affected by other genetic risk factors. Complex interactions of genetic mutations can be affects different levels of thrombotic system or reinforce each other's effects on homeostatic mechanisms. The analysis of literature, together with the action mechanisms of the classic genetical factors and new suggestions, may contribute significantly to our understanding of the genetic predisposition to venous thrombosis. J Clin Exp Invest 2012; 3(2): 303-306

Keywords

• Venous thrombosis, genetic predisposition, homeostatic mechanisms

A Genetical approach to deep venous thrombosis

Öz

Derin ven trombozu (DVT) sıklıkla cerrahi girişimler ve travma sonrası ve kanser veya immobilizasyon koşullarının varlığında oluşur yaygın bir hastalıktır. Ancak aynı zamanda bu predispozan faktörlerin herhangi biri olmaksızın da gelişebilir. Bu durum araştırmacıları, organizmada ki trombotik yatkınlığın temelini soruşturmaya yönlendirmektedir. Faktör V Leiden, Faktör II G20210 A, plazminojen aktivatör inhibitörü-1, protrombin A20210 ve faktör XIII-VIII yaygın protrombotik genetik mutasyonlarıdır. Bununla birlikte, mevcut çalışmalar trombotik olayların sadece tek gen delesyonu veya hemstatik regülasyona bağlı olmadığını, diğer genetik risk faktörlerinden de etkilendiğini göstermektedir. Genetik mutasyonlarınn karmaşık etkileşimleri, trombotik sisteminin farklı düzeylerde etkiler veya hemostatik mekanizmaların birbirlerinin etkisini arttırabilir. Literatür analiziyle, klasik genetik faktörlerin ve yeni buluşların etki mekanizmalarının birlikte ele alınması, venöz trombozda genetik yatkınlık anlayışımıza önemli katkıda bulunabilir.

Anahtar Kelimeler

• Derin ven trombozu, genetik yatkınlık, homeostatik mekanizmalar

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