Inherited Thrombophilia and the Risk of Vascular Events

The definition of thrombophilia includes the impact of hereditary base in the tendency to develop thrombosis and its clinical manifestations. Prothrombotic phenotype results from the interaction of inherited disorders of coagulation and various "clinical" risk factors such as obesity, immobility, major and minor surgery, hormone therapy, malignancy, etc. According to the accepted multicausal model, inherited thrombophilia is a manifestation of mutual influence of gene-gene and gene-environmental factors. Inherited thrombophilia traits include a wide range of disorders. Deficits of some coagulation inhibitors are relatively rare, and their clinical significance is previously known. On the other hand, in genes which control the coagulation cascade, there are many variants that are widespread in the population. The practical significance of these variants, known as genetic polymorphisms, is different, and the subject of numerous epidemiological-genetic, clinical and health economic studies (Novaković et al, 2010; Krcunović et al., 2010; Pavlović et al., 2011). In summary, the most common congenital disorders associated with thrombophilia are: a deficiency of antithrombin, protein C and protein S, variants of factor V Leiden and prothrombin 20210, and mild hyperhomocysteinemia (Table 1). Individually or in combination, these traits are present in about 40% of patients with venous thromboembolism (VTE), and in approximately the same percentage of women with disorders of pregnancy and puerperium, such as fetal loss, fetal growth restriction and preeclampsia (De Stefano et al, 2002).