Inherited Thrombophilia: Past, Present, and Future Research

Thrombophilia is defined as a disorder of hemostasis in which there is a tendency for the occurrence of thrombosis in veins or arteries due to abnormalities in blood composition, blood flow, or the vascular wall. The pathogenesis of venous versus arterial thrombosis is very distinct and these are often considered as separate diseases. The term thrombophilia is most often used in combination with venous thrombosis. VTE encompasses mainly deep vein thrombosis and pulmonary embolism. Venous thromboembolism is a common disease with an annual age-dependent incidence of 1-3 individuals per 1000 per year (Naess et al, 2007). VTE is a serious disease with a thirty day case-fatality rate of 6.4% after a first VTE event and this rate is twice as high for pulmonary embolism (9.7%) than for deep vein thrombosis (4.6%) (Naess et al, 2007). VTE can also lead to complications like post-thrombotic syndrome that is characterized by pain and ulceration. Although both sexes are equally affected by a first VTE, men have a more than 2-fold higher risk for a recurrent VTE as compared to women (Douketis et al, 2011). VTE is a complex common disease in which multiple risk factors, both acquired and genetic, are involved in the development of the disease. Many acquired risk factors have been identified such as surgery, immobilization, trauma, oral contraceptive or hormone replacement therapy use, pregnancy, malignancy, and advanced age. This chapter will focus on the genetic risk factors for VTE that have been identified to date and the research methods that were used to identify these factors in the past as well as new technological innovations used for the discovery of new genetic risk factors for VTE.