Fujimura Yoshihiro, Matsumoto Masanori
Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Japan.
Intern Med. 2010;49(1):7-15. doi: 10.2169/internalmedicine.49.2706. Epub 2010 Jan 1.
Thrombotic microangiopathies (TMAs) are pathological conditions characterized by generalized microvascular occlusion by platelet thrombi, thrombocytopenia, and microangiopathic hemolytic anemia. Two typical phenotypes of TMAs are hemolytic-uremic syndrome (HUS) and thrombotic thrombocytopenic purpura (TTP). Severe deficiency of plasma ADAMTS13 activity (ADAMTS13: AC) is more specific for TTP, but not for HUS. Since 1998, our laboratory has functioned as a nationwide referral center for TMAs by analyzing ADAMTS13.
Of 1,564 patients tested from 426 hospitals, 919 were positive for TMA. Levels of ADAMTS13: AC and the ADAMTS13 neutralizing autoantibody (ADAMTS13: INH) were determined by chromogenic act-ELISA and/or by classic von Willebrand factor multimer assay.
TMA patients consisted of two groups: severe (less than 3% of normal control) and non-severe deficiency of ADAMTS13: AC. Both groups were divided into congenital (n=65) and acquired (n=854) TMA. Of the former, 41 had congenital deficiency of ADAMTS13: AC, while the remaining 24 had disease of unknown etiology. The 854 patients with acquired TMA could be largely grouped into three categories: idiopathic TTP (n=284), idiopathic HUS (n=106), and secondary TMAs (n=464). The secondary TMAs were observed in heterogeneous patient groups and were associated with drugs, connective tissue diseases, malignancies, transplantation, pregnancy, E. coli O157: H7 infection, and other factors. All of the patients with acquired severe ADAMTS13: AC deficiency were positive for ADAMTS13: INH.
Although TMAs are highly heterogeneous pathological conditions, one-third of TMA patients have severe deficiency of ADAMTS13: AC. Platelet transfusions to such patients are contraindicated. Rapid ADAMTS13: AC assays are therefore prerequisite to appropriately treat TMA patients.
血栓性微血管病(TMA)是一类病理状态,其特征为血小板血栓导致广泛性微血管闭塞、血小板减少以及微血管病性溶血性贫血。TMA的两种典型表型是溶血尿毒综合征(HUS)和血栓性血小板减少性紫癜(TTP)。血浆ADAMTS13活性严重缺乏(ADAMTS13:AC)对TTP更具特异性,但对HUS并非如此。自1998年以来,我们的实验室通过分析ADAMTS13,一直作为全国性的TMA转诊中心。
在来自426家医院检测的1564例患者中,919例TMA检测呈阳性。采用发色底物法ELISA和/或经典的血管性血友病因子多聚体分析方法测定ADAMTS13:AC水平以及ADAMTS13中和性自身抗体(ADAMTS13:INH)。
TMA患者分为两组:ADAMTS13:AC严重缺乏(低于正常对照的3%)组和非严重缺乏组。两组又分为先天性(n = 65)和获得性(n = 854)TMA。在先天性TMA中,41例存在ADAMTS13:AC先天性缺乏,其余24例病因不明。854例获得性TMA患者大致可分为三类:特发性TTP(n = 284)、特发性HUS(n = 106)和继发性TMA(n = 464)。继发性TMA在不同患者群体中均有观察到,且与药物、结缔组织病、恶性肿瘤、移植、妊娠、大肠杆菌O157:H7感染及其他因素有关。所有获得性ADAMTS13:AC严重缺乏的患者ADAMTS13:INH检测均为阳性。
尽管TMA是高度异质性的病理状态,但三分之一的TMA患者存在ADAMTS13:AC严重缺乏。此类患者禁忌输注血小板。因此,快速检测ADAMTS13:AC是恰当治疗TMA患者的前提条件。