ASH VTE Guidelines: Thrombophilia Testing

Thrombophilias include a variety of genetic mutations that are associated with increased risk of VTE. Thrombophilia, either acquired or hereditary, can be identified in many patients presenting with venous thromboembolism (VTE). The currently most commonly tested hereditary thrombophilias include deficiencies of antithrombin, protein C, or protein S, and the gain‐of‐function mutations Factor V Leiden (FVL) and prothrombin G20210A (PGM). Lupus anticoagulant, anticardiolipin antibodies, and anti‐ß2‐ glycoprotein1 antibodies, which are laboratory features of the acquired thrombophilic antiphospholipid syndrome (APS), are also generally included in a thrombophilia testing panel.

Thrombophilia testing can be performed in patients with VTE, particularly if they are young, have recurrent episodes, have thrombosis at unusual sites, or have a positive family history of the disease.  The purpose of these guidelines is to provide evidence-based recommendations about whether thrombophilia testing and tailoring management based on the test result would improve patient‐important outcomes.