Genetic Predisposition To Thrombophilia

Abstract

Thrombophilia is defined as a predisposition to inappropriate clot formation. It can be hereditary, caused by genetic factors; aquired - associated with environmental factors, or etiologically complex - the most common form, influenced by gene-environment interaction. Thrombophilia can be both caused by an increased function of coagulation cascade factors or decreased function of fibrinolysis factors. The etiological significance of genetic factors, such as Factor V Leiden, the G20210A variant of prothrombin (Factor II), protein C-, protein S- or antithrombin defficiency, has been long established. Still disputed is the clinical significance of the PAI1 4G polymorphism and few polymorphic variants of the MTHFR gene, the latter associated with hyperhomocysteinemia. The most common clinical presentation of thrombophilia is increased risk for venous thrombosis and thromboembolism.