Hiller E, Pihusch R
Klinik III, Klinikum Grosshadern, Universität München.
Fortschr Med. 1998 Oct 20;116(29):26-8, 30, 32 passim.
Today, more than 40% of all patients who develop a thrombosis are found to have inherited thrombophilia. The most common cause of this is APC resistance, which can usually be traced back to factor V-Leiden. In the commonly heterozygous patients the risk of thrombosis is increased about 7-fold (life-long risk of thrombosis 10 to 15%). In most cases, however, additional thrombogenic stimuli are required (oral contraception, pregnancy, surgery, immobilization). In combination with oral contraceptives, the risk is increased roughly 30-fold. In contrast, APC resistance does not present an increased risk for thrombosis in the arterial system (myocardial infarction, stroke). Four further inherited or acquired disorders of the hemostatic system are known: prothrombin dimorphism, antithrombin, protein C and protein S deficiencies. Prothrombin dimorphism, the second most common form of inherited thrombophilia, has been known only for the past two years and elevates the risk of thrombosis only to a moderate degree. Today, a search for thrombophilic factors should be carried out not only in young patients with spontaneous development of thrombosis, but also in elderly patients, even when an additional risk for the occurrence of thrombosis such as traumatization or immobilization is present. Therapeutic consequences are discussed.
如今，在所有发生血栓形成的患者中，超过40%被发现存在遗传性易栓症。其最常见的原因是APC抵抗，这通常可追溯至因子V莱顿突变。在常见的杂合子患者中，血栓形成风险增加约7倍（终生血栓形成风险为10%至15%）。然而，在大多数情况下，还需要额外的血栓形成刺激因素（口服避孕药、妊娠、手术、制动）。与口服避孕药同时存在时，风险大致增加30倍。相比之下，APC抵抗在动脉系统（心肌梗死、中风）中不会增加血栓形成风险。已知还有另外四种遗传性或获得性止血系统疾病：凝血酶原基因多态性、抗凝血酶、蛋白C和蛋白S缺乏症。凝血酶原基因多态性是遗传性易栓症的第二常见形式，仅在过去两年才被知晓，且仅将血栓形成风险适度提高。如今，不仅应在血栓形成自发发生的年轻患者中寻找易栓因素，在老年患者中也应进行寻找，即便存在诸如创伤或制动等血栓形成的额外风险。文中还讨论了治疗方面的影响。
