Galstyan G M, Klebanova E E
National Research Center for Hematology.
Ter Arkh. 2020 Dec 15;92(12):207-217. doi: 10.26442/00403660.2020.12.200508.
Thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening disease, disease, characterised by microangiopathic hemolytic anaemia, consumption thrombocytopenia, and organ dysfunction. The pathogenesis of TTP is attributed to the deficiency in the activity of the metalloproteinase ADAMTS13, specific von Willebrand factor cleaving protease. TTP is suspected when detecting microangiopathic hemolytic anemia, thrombocytopenia, damage to various organs. Diagnosis of TTP is confirmed by the detection of ADAMTS13 activity in plasma less than 10%. Plasma samples for the study of ADAMTS13 activity should be taken before the start of plasma transfusions or plasma exchange. In patients with severe ADAMTS-13 deficiency autoantibodies anti-ADAMTS13 and inhibitor ADAMTS13 should be investigated. Anti-ADAMTS13 antibodies belonging to IgG not always have inhibitory effects. The inhibitory effect of anti-ADAMTS13 antibodies is confirmed by mixing test. All patients with the first established diagnosis of TTP should be examined for mutations of the ADAMTS13 gene.
血栓性血小板减少性紫癜（TTP）是一种罕见的、危及生命的疾病，其特征为微血管病性溶血性贫血、消耗性血小板减少和器官功能障碍。TTP的发病机制归因于金属蛋白酶ADAMTS13（特异性血管性血友病因子裂解蛋白酶）活性的缺乏。当检测到微血管病性溶血性贫血、血小板减少以及各器官损害时，怀疑患有TTP。通过检测血浆中ADAMTS13活性低于10%来确诊TTP。用于研究ADAMTS13活性的血浆样本应在开始输血或血浆置换之前采集。对于严重ADAMTS - 13缺乏的患者，应检测抗ADAMTS13自身抗体和ADAMTS13抑制剂。属于IgG的抗ADAMTS13抗体并不总是具有抑制作用。抗ADAMTS13抗体的抑制作用通过混合试验来确认。所有首次确诊为TTP的患者均应检查ADAMTS13基因的突变情况。
