Thrombophilia: Contemporary perspectives

Thrombophilia, both inherited and acquired, could play a significant role in the pathogenesis of arterial thrombotic disorders. Factor V Leiden variant, prothrombin gene G20210A mutation, and protein C, protein S, and antithrombin deficiency are the commonly tested inherited hypercoagulable states. Testing for the common congenital thrombophilic states is not useful in the management of coronary artery thrombosis. Antiphospholipid antibody syndrome (APLS), heparin-induced thrombocytopenia (HIT), and myeloproliferative neoplasms (MPNs) are some of the acquired hypercoagulable states that could result in coronary artery thrombosis. In patients presenting with coronary artery thrombosis in the absence of atherosclerotic disease, investigation for APLS should be initiated. HIT, an acquired prothrombotic complication of heparin, on rare occasions could result in myocardial infarction. A diagnosis of HIT could also complicate the management of coronary artery interventions, since nonheparin anticoagulants have to be administered in these situations. JAK2-positive MPNs like polycythemia vera and essential thrombocythemia are associated with arterial thrombotic disorders.