Thrombophilia Testing in Venous Thromboembolism.

Abstract

Hereditary thrombophilias, comprising factor V Leiden mutation, prothrombin G20210A mutation, protein C, S, and antithrombin deficiency, and acquired antiphospholipid antibody syndrome, predispose venous thromboembolism (VTE) in various mechanisms. Not only the thrombophilia testing and result interpretation requires special laboratory and expertise but also the indications for thrombophilia testing are variable across centers. This is because the role of thrombophilia in VTE management is still under investigation. This narrative review describes the main thrombophilias to be tested, summarizes the indications for thrombophilia testing, and reports the current evidence regarding their role in the duration and choice of anticoagulation in VTE.