Anticoagulation in Thrombophilia

Abstract

Thrombophilia is a condition of hypercoagulability, which is defined as an abnormality of blood clotting, disturbing the balance between procoagulants and anticoagulants in favor of the former, thus increasing the risk of thrombosis. It can be classified into different categories, such as genetic/administered; primary/secondary; permanent/transient; low risk/high risk. Venous thromboembolism is the main and most common complication of a hypercoagulable condition, with an enormous impact on any national health system. The pathophysiological mechanisms involved are at various stages of research, some of which are far from being fully elucidated. Treatment of thrombophilia differs—while most conditions do not require anticoagulation as primary prophylaxis, secondary prophylaxis may require transient or permanent anticoagulation. Treatment options include parenteral unfractionated heparin, low molecular weight heparin (LMWH), fondaparinux or orally administered vitamin K antagonists, and direct oral anticoagulants (DOAC), such as rivaroxaban, apixaban, dabigatran, with increasing indications as data accumulate from recent and ongoing studies and trials.