Salomon O, Seligsohn U
Amalia Biron Research Institute of Thrombosis and Hemostasis, Chaim Sheba Medical Center, Tel Hashomer, Israel.
Haemophilia. 2004 Oct;10 Suppl 4:184-7. doi: 10.1111/j.1365-2516.2004.00992.x.
Factor (F) XI is an injury-related bleeding tendency that commonly occurs when trauma involves tissues rich in fibronolytic activators. Severe FXI deficiency is defined when the activity of FXI in plasma is less than 15 U dL(-1). The disorder is inherited as an autosomal recessive trait manifesting in homozygotes or compound heterozygotes, and infrequently in heterozygotes. So far 53 mutations in the gene of FXI have been described and four of them were found to be prevalent in Ashkenazi Jews, Iraqi Jews, Basques or the English population. For each of the four mutations a founder effect was discerned. Inhibitors can develop in patients with FXI level < 1U dL(-1) who were exposed to plasma which seriously complicates their management during surgery. No correction of a prolonged aPTT by normal plasma is indicative of the presence of an inhibitor. In contrast to patients with haemophilia A, severe FXI deficiency provides no protection against myocardial infarction. In patients with severe FXI deficiency undergoing surgery, fresh frozen plasma is the treatment of choice. FXI concentrates can also be used but cause thrombosis in approximately 10% of patients, particularly those with cardiovascular disease. Recombinant FVIIa has successfully prevented bleeding during or after surgery in patients with FXI inhibitors.
因子（F）XI缺乏是一种与损伤相关的出血倾向，常见于创伤累及富含纤溶激活剂的组织时。当血浆中FXI活性低于15 U dL⁻¹时，定义为严重FXI缺乏。该疾病以常染色体隐性遗传特征遗传，表现于纯合子或复合杂合子，杂合子中较少见。迄今为止，已描述了FXI基因中的53种突变，其中4种在德系犹太人、伊拉克犹太人、巴斯克人或英国人群中较为常见。对于这4种突变中的每一种，均发现了奠基者效应。FXI水平<1 U dL⁻¹且接触过血浆的患者可能会产生抑制剂，这在手术期间会严重影响其治疗管理。正常血浆无法纠正延长的活化部分凝血活酶时间（aPTT）表明存在抑制剂。与甲型血友病患者不同，严重FXI缺乏不能预防心肌梗死。对于接受手术的严重FXI缺乏患者，新鲜冷冻血浆是首选治疗方法。也可使用FXI浓缩剂，但约10%的患者会出现血栓形成，尤其是患有心血管疾病的患者。重组凝血因子VIIa已成功预防了FXI抑制剂患者手术期间或术后的出血。
