Hereditary thrombophilia

The development of episodes of venous thromboembolism is a significant problem in various fields of medicine, and the identification of risk factors for the development of thrombosis is an important task. Hereditary thrombophilia plays an important role in the pathogenesis of venous thromboembolism. It was found that hereditary thrombophilia is polygenic and is caused by the presence of genetic abnormalities. The enhancement of the functional activity of the protein is determined by mutations G20210A in the factor II gene (prothrombin) and G1691A in the factor V gene (factor V Leiden). Mutations with loss of functional activity of the protein are characteristic of natural anticoagulants, which include antithrombin, proteins C and S. Thus, thrombophilia is used to denote hereditary (congenital) defects in the hemostasis system that contribute to the development of hypercoagulation and may be accompanied by venous thromboembolic complications.