[Inherited thrombophilia].
Inherited thrombophilia can be defined as a genetically determined predisposition to develop thromboembolic complications. Inherited prothrombotic risk factors include antithrombin deficiency, protein C and protein S deficiencies, activated protein C resistance due to Leiden factor V mutation, inherited hyperhomocysteinemia, prothrombin G20210A variant, dysfibrinogenemia and elevated factor VIII levels. In this review we briefly analyze, from an epidemiologic, clinic and diagnostic point of view, the main inherited prothrombotic risk factors. Finally, we discuss the synergism between genetic and acquired prothrombotic risk factors in some conditions such as pregnancy and cardiovascular diseases.
Franchini
Massimo
M
Servizio di Immunoematologia e Trasfusione, Azienda Ospedaliera di Verona. mfranchini@mail.univr.it
Veneri
Dino
D
D006801:Humans; D019851:Thrombophilia / Q000150:complications / Q000209:etiology / Q000235:genetics*