Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, Houston, TX, United States.
Texas Children's Cancer and Hematology Centers, Texas Children's Hospital, Houston, TX, United States.
Front Immunol. 2022 Apr 11;13:836960. doi: 10.3389/fimmu.2022.836960. eCollection 2022.
Thrombotic thrombocytopenic purpura (TTP) is a rare but potentially life-threatening hematologic disease, presenting a myriad of diagnostic and management challenges in children. Here, we provide a review of this disorder and discuss 2 exemplary cases of TTP occurring in adolescents, emphasizing the need for consideration of late-onset congenital TTP (cTTP). We demonstrate the importance of early confirmation of ADAMTS13 enzyme deficiency and the presence or absence of ADAMTS13 inhibitor in order to rapidly initiate the appropriate life-saving therapies. Ultimately, molecular testing is paramount to distinguishing between congenital and acquired immune-mediated TTP.
血栓性血小板减少性紫癜（TTP）是一种罕见但潜在危及生命的血液系统疾病，在儿童中存在诸多诊断和管理挑战。在此，我们对该疾病进行了综述，并讨论了 2 例发生在青少年中的 TTP 典型病例，强调了考虑迟发性先天性 TTP（cTTP）的必要性。我们展示了早期确认 ADAMTS13 酶缺乏以及 ADAMTS13 抑制剂存在或缺失的重要性，以便迅速启动适当的救生治疗。最终，分子检测对于区分先天性和获得性免疫介导的 TTP 至关重要。
