Seligsohn U
Amalia Biron Research Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel Hashomer, Israel.
J Thromb Haemost. 2009 Jul;7 Suppl 1:84-7. doi: 10.1111/j.1538-7836.2009.03395.x.
Factor XI (FXI) deficiency is an autosomal recessive injury-related bleeding tendency, which is common in Jews particularly of Ashkenazi origin. To date, 152 mutations in the FXI gene have been reported with four exhibiting founder effects in specific populations, Glu117stop in Ashkenazi and Iraqi Jews and Arabs, Phe283Leu in Ashkenazi Jews, Cys38Arg in Basques, and Cys128stop in the United Kingdom. Severe FXI deficiency does not confer protection against acute myocardial infarction, but is associated with a reduced incidence of ischemic stroke. Inhibitors to FXI develop in one-third of patients with very severe FXI deficiency following exposure to blood products. Therapy for prevention of bleeding during surgery in patients with severe FXI deficiency consists of plasma, factor XI concentrates, fibrin glue and antifibrinolytic agents. In patients with an inhibitor to FXI, recombinant factor VIIa is useful.
因子 XI（FXI）缺乏症是一种常染色体隐性损伤相关出血倾向，在犹太人中较为常见，尤其是具有阿什肯纳兹血统的犹太人。迄今为止，已报道了 FXI 基因中的 152 种突变，其中四种在特定人群中表现出奠基者效应，即阿什肯纳兹和伊拉克犹太人与阿拉伯人中的 Glu117stop、阿什肯纳兹犹太人中的 Phe283Leu、巴斯克人中的 Cys38Arg 以及英国的 Cys128stop。严重的 FXI 缺乏症并不能预防急性心肌梗死，但与缺血性中风发病率降低有关。在三分之一非常严重的 FXI 缺乏症患者接触血液制品后会产生 FXI 抑制剂。严重 FXI 缺乏症患者手术期间预防出血的治疗方法包括血浆、因子 XI 浓缩物、纤维蛋白胶和抗纤溶药物。对于有 FXI 抑制剂的患者，重组因子 VIIa 是有用的。
