Division of Hematology and Central Hematology Laboratory, Lausanne University Hospital (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland.
Hamostaseologie. 2020 Nov;40(4):491-499. doi: 10.1055/a-1227-8122. Epub 2020 Oct 1.
Factor XI (FXI) is a serine protease involved in the propagation phase of coagulation and in providing clot stability. Several mutations in the gene lead to FXI deficiency, a rare mild bleeding disorder. Current laboratory methods are unable to assess bleeding risk in FXI-deficient patients, because the degree of bleeding tendency does not correlate with plasma FXI activity as measured by routine coagulometric aPTT-based assays. Bleeding manifestations are highly variable among FXI-deficient patients and FXI replacement therapy can be associated with an increased thrombotic risk. A correct evaluation of the patient hemostatic potential is crucial to prevent under- or overtreatment. In recent years, different research groups have investigated the use of global coagulation assays as alternative for studying the role of FXI in hemostasis and identifying the clinical phenotype of FXI deficiency. This brief review article summarizes the main features of coagulation factor XI and its deficiency and resumes the principle axes of research and methods used to investigate FXI functions.
因子 XI (FXI) 是一种丝氨酸蛋白酶，参与凝血的扩增阶段，并提供血栓稳定性。基因中的几个突变导致 FXI 缺乏，这是一种罕见的轻度出血性疾病。目前的实验室方法无法评估 FXI 缺乏患者的出血风险，因为出血倾向的程度与常规凝血酶原时间 (aPTT) 为基础的凝血测定法测量的血浆 FXI 活性不相关。FXI 缺乏患者的出血表现差异很大，FXI 替代治疗可能与血栓形成风险增加相关。正确评估患者的止血潜能对于预防治疗不足或过度治疗至关重要。近年来，不同的研究小组已经研究了使用全球凝血检测作为替代方法来研究 FXI 在止血中的作用，并确定 FXI 缺乏的临床表型。本文简要综述了凝血因子 XI 及其缺乏的主要特征，并总结了研究 FXI 功能的主要研究轴和方法。
