Inherited thrombophilia: an update.
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 factor V Leiden mutation, inherited hyperhomocysteinemia, prothrombin G20210A variant, dys- and hyperfibrinogenemia and elevated factor VIII levels. In this review we briefly analyze, from an epidemiologic, laboratory and clinical 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, Verona, Italy. mfranchini@mail.univr.it
Veneri
Dino
D
D025861:Blood Coagulation Disorders, Inherited / Q000097:blood / Q000150:complications / Q000235:genetics*; D019774:Blood Coagulation Factor Inhibitors / Q000172:deficiency; D001779:Blood Coagulation Factors / Q000032:analysis / Q000235:genetics; D002318:Cardiovascular Diseases / Q000209:etiology; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic; D012307:Risk Factors; D019851:Thrombophilia / Q000097:blood / Q000150:complications / Q000235:genetics*
D019774:Blood Coagulation Factor Inhibitors; D001779:Blood Coagulation Factors