Perfil de trombofilias hereditárias em pacientes com distúrbios trombóticos em uso de anticoagulante oral

Abstract

Abstract The word thrombophilia is used to describe an increasedtendency to develop venous thrombosis and, occasionally, arterialthrombosis. Thrombophilia is classified as hereditary when there isa genetic abnormality that predisposes the individual to vascularocclusion. Interaction with another component, whether hereditaryor acquired, is usually required to trigger a thrombotic episode.Hereditary thrombophilia is, most of the time, due to alterationsrelated to physiological inhibitors of coagulation (antithrombin,protein C, protein S and activated protein c resistance) or to mutationsin the genes of coagulation factors (FV G1691A or Factor V Leidenand prothrombin G20210A mutations). Thromboembolic diseasehas been the subject of intense research since the end of the eighteenthcentury in an attempt to establish a reason for its incidence anddevelopment. Patients with thromboembolic events secondary toatrial fibrillation, valvar disease or deep venous thrombosis arepreventively treated with oral anticoagulants. These individualsmay have hereditary thrombophilias, and the definition of diagnosisplays an important role in family counseling and prevention. The