Plasminogen activator inhibitor type 1 deficiency
Plasminogen activator inhibitor type 1 deficiency
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DOI：
10.1111/j.1365-2516.2008.01834.x
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发表时间：
2008-11-01
期刊：
影响因子：
3.9
通讯作者：
Shapiro, A. D.
中科院分区：
文献类型：
--
作者：
Mehta, R.;Shapiro, A. D.
纤溶酶原激活物抑制剂1型（派-1）是凝血系统的重要组成部分，下调循环中的纤维蛋白溶解。派-1水平降低可能导致纤维蛋白溶解增加和相关的出血素质。派-1缺乏作为出血性疾病原因的明确文献很少。派-1最初在20世纪80年代被发现，第一例派-1缺乏症的报告出现在1989年。随后有几份报告，尽管只有两份确定了潜在的遗传缺陷。这些派-1缺乏的报告表明，受影响的个体表现出轻度至中度出血症状，包括鼻衄、月经过多和创伤或外科手术后延迟出血。受影响的个人很少表现出自发性出血事件常见于其他促凝血功能障碍。大多数出血事件可通过抗纤维蛋白溶解药物（如氨甲环酸和ε-氨基己酸）控制。导致难以建立派-1缺乏症的准确诊断的主要问题是活性测定在检测升高的水平时是准确的，但在最低范围时不是。报告的正常范围从零开始开始，从而使得由于异常蛋白血症导致的缺乏状态难以与正常的未受影响个体的缺乏状态区分。尽管抗原测定在某些情况下可能有帮助，但它仅对完全定量疾病有帮助。由于缺乏标准化的市售派-1活性检测灵敏度在最低范围内，这种罕见疾病的真实患病率尚未确定。
Plasminogen activator inhibitor type 1 (PAI-1) is an important component of the coagulation system that down-regulates fibrinolysis in the circulation. Reduced PAI-1 levels may result in increased fibrinolysis and an associated bleeding diathesis. Clear documentation of PAI-1 deficiency as a cause of a bleeding disorder has been rare. PAI-1 was initially identified in the 1980s, and the first reported case of PAI-1 deficiency appeared in 1989. Several reports followed, although only two identified an underlying genetic defect. These reports of PAI-1 deficiency suggest that affected individuals exhibit mild to moderate bleeding symptoms, including epistaxis, menorrhagia, and delayed bleeding after trauma or surgical procedures. Affected individuals rarely exhibit spontaneous bleeding events commonly seen in other procoagulant deficiencies. The majority of bleeding events are controlled with antifibrinolytic agents, such as tranexamic acid and epsilon-aminocaproic acid. A major issue that contributes to difficulty in establishing an accurate diagnosis of PAI-1 deficiency is that the activity assay is accurate in detection of elevated levels but not at the lowest range. Reported normal ranges begin at zero, thereby making a deficiency state because of a dysproteinaemia difficult to distinguish from that of a normal unaffected individual. Although the antigen assay may be helpful in some circumstances, it assists only with complete quantitative disorders. Because of lack of standardized commercially available PAI-1 activity assay sensitive in the lowest range, the true prevalence of this rare condition has not been established.