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Understanding Genetic Variations as Risk Factors for Development Venous Thrombo-Embolism (VTE)

Swati Srivastava

Venous thrombosis (VT) possess a major health problem worldwide and has a high incidence in several populations across the world. Its two clinical manifestations include deep vein thrombosis (DVT) and pulmonary embolism (PE). The pathogenetic mechanism of venous thromboembolism (VTE) is still not completely elucidated, however there are clear evidences that the process occurs by complex interaction of genetic and environmental factors, wherein, genetic risk factors plays a major role. These numerous conditions that are known for predisposition of venous thromboembolism are commonly referred to as ‘risk factors’. Classical risk factors for VTE include advancing age, prolonged immobilization, surgery, use of oral contraceptives or hormones, pregnancy, cancer etc. However, in the recent decades, studies have emerged that indicating a major role of novel genetic risk factors. These genetic risk factors include genes related to haemostatic system and coagulation cascade. Understanding the of role of these genes as predisposing factors for VTE represent a crucial step for a better understanding of pathogenesis of thrombosis. Several genes that have been studied for their mutations playing a role in VTE are factor V Leiden (FVL), antithrombin (AT), protein C, protein S, prothrombin, fibrinogen etc. The risk associated with each genetic defect might be relatively insignificant when studied individually but simultaneous involvement of several mutations increase the risk of susceptibility. In addition to this, acquired risk factors interacting with one or more genetic variations further add to the risk of VTE. This review has been complied to interrogate the role of several genetic and acquired risk factors across various populations as investigated in numerous studies.