A number of gene variants that cause hypercoagulability, and can lead to venous thromboembolism, have been identified. The two main mechanisms are loss-of-function of anticoagulant proteins and gain-of-function of procoagulants. In this Review, Ida Martinelli and colleagues discuss the main causes of inherited thrombophilia, the associated clinical manifestations, and the implications for screening and antithrombotic prophylaxis in affected individuals and their families.
- Ida Martinelli
- Valerio De Stefano
- Pier M. Mannucci
