Böhm G, Al-Khaffaf H
Department of Surgery, University Hospital RWTH, Aachen, Germany.
Int Angiol. 2003 Jun;22(2):116-24.
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.
血栓形成倾向可定义为动脉或静脉血栓形成的倾向。血栓形成倾向可后天获得或具有遗传性。导致动脉血栓形成的后天性疾病在血管外科实践中较为常见，但遗传因素的潜在影响却鲜为人知。近年来，有证据表明遗传因素在静脉血栓形成的发病机制中起关键作用，许多此前未知的遗传缺陷最近已被发现。另一方面，遗传易感性在动脉闭塞性疾病发病机制中的作用尚不清楚，尽管最近的出版物表明存在明确的联系。这可能对血管外科医生治疗动脉疾病患者具有重要意义。为了确定1990年至2002年间发表的关于血栓形成倾向、动脉疾病和外周动脉闭塞性疾病（PAOD）的论文，我们进行了医学文献数据库检索。关于静脉血栓形成，我们对导致血栓形成倾向的遗传缺陷有了更广泛的了解。这改变了静脉血栓形成患者的诊断和治疗方法，并对家庭成员尤其是育龄女性的咨询和筛查产生了重要影响。关于动脉血栓形成，某些血栓形成倾向疾病具有明确的病理生理作用。已证明遗传性或后天性高同型半胱氨酸血症是动脉粥样硬化血栓形成的独立危险因素。抗磷脂抗体综合征（APS）是一种后天性疾病，也易导致动脉血栓形成。其他血栓形成倾向疾病，如凝血酶原基因G20210A变异或因子V莱顿突变，已得到研究，但目前的证据并未明确支持其在动脉粥样硬化血栓形成中具有病理生理作用这一假说。因此，根据目前的证据，一般不建议对动脉粥样硬化血栓形成患者进行常规血栓形成倾向筛查，但选择性筛查有一定作用。
