Quel bilan de thrombophilie chez un patient atteint de maladie veineuse thromboembolique ?

Venous thromboembolism (VTE) is a frequent and serious disease. A clinical and/or a thrombophilia risk factor are found in more than 50% of the cases. Most frequent thrombophilia defects are factor V Leiden mutation and prothrombin G20210A mutation. Antithrombin deficiency and protein C deficiency are associated with the highest risk of thrombosis. Despite a low level of evidence, screening for thrombophilia could modify the therapeutic management of some patients with VTE, in particular for the duration of anticoagulation for VTE prophylaxis in pregnant women. A screening for thrombophilia is generally suggested when VTE occurs before 45 years in case of recurrent VTE, unusual thrombosis localization, and after some pregnancy complications. The research of thrombophilia should not hide the need for seeking other medical conditions such as cancer or hormonal treatment frequently associated with VTE and who have higher therapeutic implication.