PDF(Pubmed)
Abstract：
Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a rare medical emergency for which a correct and early diagnosis is essential. As a severe deficiency in A Disintegrin And Metalloproteinase with ThromboSpondin type 1 repeats, member 13 (ADAMTS13) is the underlying pathophysiology, diagnostic strategies require timely monitoring of ADAMTS13 parameters to differentiate TTP from alternative thrombotic microangiopathies (TMAs) and to guide initial patient management. Assays for conventional ADAMTS13 testing focus on the enzyme activity and presence of (inhibitory) anti-ADAMTS13 antibodies to discriminate immune-mediated TTP (iTTP) from congenital TTP and guide patient management. However, diagnosis of iTTP remains challenging when patients present borderline ADAMTS13 activity. Therefore, additional biomarkers would be helpful to support correct clinical judgment. Over the last few years, the evaluation of ADAMTS13 conformation has proven to be a valuable tool to confirm the diagnosis of acute iTTP when ADAMST13 activity is between 10 and 20%. Screening of ADAMTS13 conformation during long-term patient follow-up suggests it is a surrogate marker for undetectable antibodies. Moreover, some non-ADAMTS13 parameters gained notable interest in predicting disease outcome, proposing meticulous follow-up of iTTP patients. This review summarizes non-ADAMTS13 biomarkers for which inclusion in routine clinical testing could largely benefit differential diagnosis and follow-up of iTTP patients.
摘要：
免疫介导的血栓性血小板减少性紫癜（iTTP）是一种罕见的医疗紧急情况，必须正确和早期诊断。作为一个严重的缺乏与血栓形成蛋白和金属蛋白酶1型重复，成员13(ADAMTS13)是潜在的病理生理学，诊断策略需要及时监测ADAMTS13参数,以区分TTP和替代血栓性微血管病变(TMA),并指导初始患者管理.常规ADAMTS13测试的测定侧重于酶活性和（抑制性）抗ADAMTS13抗体的存在，以区分免疫介导的TTP（iTTP）与先天性TTP并指导患者管理。然而,当患者呈现临界ADAMTS13活性时,iTTP的诊断仍然具有挑战性.因此,额外的生物标志物将有助于支持正确的临床判断.在过去的几年里，当ADAMST13活性在10％至20％之间时，对ADAMTS13构象的评估已被证明是确认急性iTTP诊断的有价值的工具。在长期患者随访期间筛选ADAMTS13构象表明它是检测不到的抗体的替代标记。此外，一些非ADAMTS13参数在预测疾病结局方面获得了显著的兴趣，建议对iTTP患者进行细致的随访。这篇综述总结了非ADAMTS13生物标志物，将其纳入常规临床检测可在很大程度上有利于iTTP患者的鉴别诊断和随访。
