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Thrombophilia Testing in Venous Thromboembolism

Kristina Vrotniakaite-Bajerciene1, Anne Angelillo-Scherrer2, Lana A Castellucci3

  • 1Department of Medicine, Ottawa Hospital Research Institute at the University of Ottawa, Ontario, Canada; Department of Hematology and Central Hematology Laboratory, Bern University Hospital, University of Bern, Bern, Switzerland.

The Medical Clinics of North America
|June 11, 2025
PubMed

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.

Keywords:
AnticoagulationAntiphospholipid antibody syndromeThrombophilia testingVenous thromboembolism

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