Thrombophilia: Their Relevance in Arterial and Venous Thrombosis

Thrombophilia refers to a group of inherited or acquired disorders that predispose individuals to excessive blood clot formation, either in the veins (venous thrombosis) or arteries (arterial thrombosis). This chapter explores the relevance of thrombophilia in the pathogenesis, diagnosis, and management of both arterial and venous thrombotic events. The key genetic mutations, such as Factor V Leiden, Prothrombin gene mutation, and deficiencies in natural anticoagulants like Protein C, Protein S, and Antithrombin, are discussed in the context of their role in increasing thrombogenicity. The chapter also discusses antiphospholipid syndrome. The relationship between thrombophilia and thrombotic events such as deep vein thrombosis, pulmonary embolism, and arterial events like myocardial infarction and stroke is examined, with a focus on how these conditions influence treatment strategies, including anticoagulation therapy and lifestyle modifications. Overall, this chapter provides a comprehensive overview of thrombophilia, emphasising its importance in both venous and arterial thrombotic disorders and the need for personalised approaches in their management.