Minowa H, Takahashi Y, Tanaka T, Naganuma K, Ida S, Maki I, Yoshioka A
Division of Neonatal Intensive Care, Nara Medical University Hospital, Kashihara, Nara, Japan.
Haemostasis. 1999;29(5):286-91. doi: 10.1159/000022514.
Congenital plasminogen activator inhibitor-1 (PAI-1) deficiency is an extremely rare disorder characterized by a bleeding diathesis that begins in childhood due to hyperfibrinolysis as a result of decreased PAI-1 activity. We now present 4 unrelated pediatric cases of congenital PAI-1 deficiency. All 4 patients had a history of recurrent episodes of subcutaneous bleeding beginning in early childhood. These episodes were characterized by abnormal prolonged bleeding after trauma, tooth extraction, and surgical procedures, as well as by rebleeding following initial hemostasis. The 2 female patients both had symptoms compatible with hypermenorrhea. The family history was positive in 2 of the 4 patients. Hemostatic screening studies in all 4 patients revealed no abnormalities. Testing for factor XIII antigen, von Willebrand factor antigen, ristocetin cofactor activity, alpha(2)-plasmin inhibitor (alpha2PI) activity, and plasminogen activity was normal. The euglobulin lysis times were shortened in all cases as compared with those in normal control subjects. None of the patients had elevated tissue plasminogen activator (tPA) antigen levels, but PAI activity was markedly decreased in all cases. Three of the patients also had reduced levels of PAI-1 antigen. There tended to be a reduction in tPA-PAI-1 complex in all cases. In addition, 2 patients had elevated PIC (plasmin-alpha2PI complex). Tourniquet tests were performed in 2 patients, with no appreciable rise in PAI-1 activity or PAI-1 antigen levels. The administration of tranexamic acid clearly improved hemorrhagic symptoms in these patients. We considered PAI-1 deficiency to be the likely etiology of the congenital bleeding diatheses in these 4 cases.
先天性纤溶酶原激活物抑制剂-1（PAI-1）缺乏症是一种极为罕见的疾病，其特征为自儿童期起因PAI-1活性降低导致的高纤溶状态而出现的出血倾向。我们现报告4例无关的先天性PAI-1缺乏症儿科病例。所有4例患者均有自幼儿期开始的反复皮下出血发作史。这些发作的特点是外伤、拔牙及外科手术后出血异常延长，以及初始止血后再出血。2例女性患者均有与月经过多相符的症状。4例患者中有2例家族史呈阳性。所有4例患者的止血筛查研究均未发现异常。凝血因子 XIII 抗原、血管性血友病因子抗原、瑞斯托霉素辅因子活性、α(2)-纤溶酶抑制剂（α2PI）活性及纤溶酶原活性检测均正常。与正常对照受试者相比，所有病例的优球蛋白溶解时间均缩短。所有患者的组织纤溶酶原激活物（tPA）抗原水平均未升高，但所有病例的PAI活性均显著降低。3例患者的PAI-1抗原水平也降低。所有病例中tPA-PAI-1复合物均有减少趋势。此外，2例患者的纤溶酶-α2PI复合物（PIC）升高。对2例患者进行了束臂试验，PAI-1活性或PAI-1抗原水平均无明显升高。氨甲环酸的应用明显改善了这些患者的出血症状。我们认为PAI-1缺乏可能是这4例先天性出血性疾病的病因。
