[Genetic risk factors of thrombosis].
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.
Emmerich
J
J
Service 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
Aiach
M
M
D000328:Adult; D000367:Age Factors; D000368:Aged; D005165:Factor V / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy; D020151:Protein C Deficiency / Q000150:complications; D018455:Protein S Deficiency / Q000150:complications; D011516:Prothrombin / Q000235:genetics; D011655:Pulmonary Embolism / Q000209:etiology / Q000235:genetics*; D012008:Recurrence; D012307:Risk Factors; D019851:Thrombophilia / Q000235:genetics; D013924:Thrombophlebitis / Q000209:etiology / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin