PDF(Pubmed)
Abstract：
Thrombotic thrombocytopenic purpura (TTP) is a rare and life-threatening thrombotic microangiopathy (TMA) related to a severe ADAMTS13 deficiency, the specific von Willebrand factor (VWF)-cleaving protease. This deficiency is often immune-mediated (iTTP) and related to the presence of anti-ADAMTS13 autoantibodies that enhance its clearance or inhibit its VWF processing activity. iTTP management may be challenging at extreme ages of life. International cohorts of people with TTP report delayed diagnoses and misdiagnoses in children and elderly people. Child-onset iTTP shares many features with adult-onset iTTP: a female predominance, an idiopathic presentation, and the presence of neurological disorders and therapeutic strategies. Long-term follow-ups and a transition from childhood to adulthood are crucial to preventing iTTP relapses, in order to identify the occurrence of other autoimmune disorders and psychosocial sequelae. In contrast, older iTTP patients have an atypical clinical presentation, with delirium, an atypical neurological presentation, and severe renal and cardiac damages. They also have a poorer response to treatment and prognosis. Long-term sequelae are highly prevalent in older patients. Prediction scores for iTTP diagnoses are not used for children and have a lower sensitivity and specificity in patients over 60 years old. ADAMTS13 remains the unique biological marker that is able to definitely confirm or rule out the diagnosis of iTTP and predict relapses during follow-ups.
摘要：
血栓性血小板减少性紫癜（TTP）是一种罕见且危及生命的血栓性微血管病（TMA），与严重的ADAMTS13缺乏有关，特定的血管性血友病因子(VWF)裂解蛋白酶。这种缺陷通常是免疫介导的(iTTP),并且与增强其清除或抑制其VWF加工活性的抗ADAMTS13自身抗体的存在有关。iTTP管理在生命的极端年龄可能具有挑战性。TTP患者的国际队列报告了儿童和老年人的延迟诊断和误诊。儿童发病iTTP与成人发病iTTP具有许多特征：女性占主导地位，特发性表现,以及神经系统疾病的存在和治疗策略。长期随访和从儿童到成年的过渡对于预防iTTP复发至关重要，以确定其他自身免疫性疾病和社会心理后遗症的发生。相比之下,老年iTTP患者的临床表现不典型，谵妄,不典型的神经表现,严重的肾脏和心脏损害.它们对治疗和预后的反应也较差。长期后遗症在老年患者中非常普遍。iTTP诊断的预测评分不适用于儿童，并且在60岁以上的患者中具有较低的敏感性和特异性。ADAMTS13仍然是唯一的生物学标记，能够明确确认或排除iTTP的诊断并预测随访期间的复发。
