Thrombophilia and arterial disease. An up-to-date review of the literature for the vascular surgeon

Abstract

Thrombophilia may be defined as the tendency to arterial or venous thrombosis. Thrombophilia can be acquired or hereditary. Acquired conditions leading to arterial thrombosis are commonly encountered in vascular surgical practice, but less well known is the potential influence of genetic factors. In recent years, evidence has accumulated for a crucial role of genetic factors in the pathogenesis of venous thrombosis, many previously unknown genetic defects having been recently identified. The role of genetic predisposition for the pathogenesis of arterial occlusive disease on the other hand is unknown, although recent publications suggest a definite link. This may have implications for the vascular surgeon in the management of patients with arterial disease. A medline search was performed in order to identify papers published between 1990-2002 on thrombophilia, arterial disease and peripheral arterial occlusive disease (PAOD). With regard to venous thrombosis we obtained a much wider knowledge about genetic defects leading to thrombophilia. This has altered the diagnostic and therapeutic approach to patients with venous thrombosis, and has had an important influence on counselling and screening of family members, especially females of childbearing age. With regard to arterial thrombosis, certain thrombophilic disorders have a definite pathophysiological role. Hyperhomocysteinaemia, inherited or acquired, has been demonstrated to be an independent risk factor for athero-thrombosis. The antiphospholipid antibody syndrome (APS), an acquired condition, also predisposes to arterial thrombosis. Other thrombophilic conditions, such as prothrombin gene G20210A variant or factor V Leiden, have been investigated, but current evidence does not unequivocally support the hypothesis of a pathophysiological role in athero-thrombosis. Routine screening for thrombophilia in patients with athero-thrombosis is therefore not generally recommended on the basis of current evidence, but there is a role for selective screening.