Thrombophilia: disorders predisposing to venous thromboembolism

Venous thromboembolism continues to present a challenge to clinicians. Over the years, a number of risk factors which predispose to venous thromboembolism have been identified, and these risk factors are taken into account in the formulation of recommendations for the prevention and treatment of these disorders. In more recent years, there have been major advances in our understanding of congenital or acquired defects that predispose to thrombosis leading to these so-called acquired or inherited forms of thrombophilia. The list of acquired forms of thrombophilia now includes anti-thrombin, protein C, protein S, activated protein C resistance, the prothrombin 20210A mutant, homocysteinemia and a number of rare defects which either enhance coagulation or interfere with fibrinolysis. In spite of these advances, there are numerous families with thrombophilia in whom none of the known defects can be demonstrated. The challenge for the future is to discover some of these as yet unknown factors and to determine the most appropriate methods for the prevention and treatment of venous thromboembolism in susceptible individuals with thrombophilia.