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[Genetic risk factors of thrombosis]
1Service de médecine vasculaire, hôpital Euroéen Georges Pompidou, Unité INSERM 428, UFR de Pharmacie, université Paris V, Paris, France. joseph.emmerich@hop.ap-hop-paris.fr
Abstract:
Genetic risk factors became a frequent predisposing cause of venous thromboembolism (VTE) since the discovery of two mutations: factor V Leiden and G20210A mutation of prothrombin gene. One of these both mutations is associated with around 25% of VTE events. Interaction of genetic risk factors, such as interaction of FV Leiden or G20210A mutation of prothrombin with antithrombin, protein C or protein S deficiencies, as well as interaction with acquired risk factors, have demonstrated that venous thrombosis is a multifactorial disease. The search for thrombophilia must be done in VTE occurring before the age of 45, in case of recurrencies and in case of familial history of VTE.