Bolton-Maggs P H
Royal Liverpool Children's Hospital NHS Trust, Alder Hey, UK.
Baillieres Clin Haematol. 1996 Jun;9(2):355-68. doi: 10.1016/s0950-3536(96)80068-0.
That factor XI has a role in normal blood coagulation is evidenced by the fact that patients with deficiency are prone to excessive bleeding after haemostatic challenge. The role of factor XI in physiological processes has become clearer since the discovery that it is activated by thrombin; this fact has contributed to a revised model of blood coagulation. Factor XI deficiency is particularly common in Ashkenazi Jews. Bleeding is typically provoked by surgery in areas of increased fibrinolysis, and is not restricted to individuals with severe deficiency. The bleeding tendency is variable and the reasons for this are not fully understood, although in severe deficiency there is some correlation between phenotype and genotype. The factor XI gene is 23 kb long, and two mutations are responsible for most factor XI deficiency in the Ashkenazi population. A total of 13 mutations have thus far been published. Factor XI deficient patients may need specific therapy to cover surgery and dental extractions. Although a factor XI concentrate is available there have been recent reports of coagulation activation and thrombosis indicating that it should be used cautiously. Fresh frozen plasma may be an acceptable alternative in some situations.
凝血因子 XI 在正常血液凝固中起作用，这一点可通过以下事实得到证明：缺乏该因子的患者在止血挑战后容易出现过度出血。自从发现凝血因子 XI 可被凝血酶激活后，其在生理过程中的作用变得更加清晰；这一事实促成了血液凝固的修订模型。凝血因子 XI 缺乏在德系犹太人中尤为常见。出血通常由纤维蛋白溶解增加区域的手术引发，且不限于严重缺乏的个体。出血倾向因人而异，其原因尚未完全明确，尽管在严重缺乏的情况下，表型与基因型之间存在一定关联。凝血因子 XI 基因长 23 kb，两个突变导致了德系犹太人群中大多数凝血因子 XI 缺乏。迄今为止共发表了 13 种突变。凝血因子 XI 缺乏的患者在进行手术和拔牙时可能需要特殊治疗。尽管有凝血因子 XI 浓缩物可用，但最近有关于凝血激活和血栓形成的报道，表明应谨慎使用。在某些情况下，新鲜冷冻血浆可能是可接受的替代选择。
