Annual incidence and severity of acute episodes in hereditary thrombotic thrombocytopenic purpura
Annual incidence and severity of acute episodes in hereditary thrombotic thrombocytopenic purpura
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DOI：
10.1182/blood.2020009801
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发表时间：
2021-06-24
期刊：
影响因子：
20.3
通讯作者：
Hovinga, Johanna A. Kremer
中科院分区：
文献类型：
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作者：
Tarasco, Erika;Buetikofer, Lukas;Hovinga, Johanna A. Kremer
遗传性血栓性血小板减少性紫癜 (hTTP) 是一种罕见的血栓性微血管病，其特征是严重的先天性 ADAMTS13 缺陷和反复发作的急性发作，导致发病和过早死亡。关于 hTTP 患者急性发作的年发病率和严重程度的信息很大程度上缺乏。本研究报告了来自遗传性 TTP 登记处 (clinicaltrials.gov #NCT01257269) 的 87 名患者自入组至 2019 年 12 月期间的生存率、频率和急性发作严重程度的前瞻性数据。这 87 名患者的中位随访时间为 4.2 年（范围为 0.01-15 年），其明显疾病发作和临床诊断的中位年龄分别为 4.6 岁和 18 岁（范围， 两者分别为 0.0-70 年）。 43 名患者接受了定期血浆预防治疗，而 22 名患者没有接受治疗，其余 22 名患者的治疗方法随时间变化或未知。43 名患者经历了 131 次急性发作，其中 91 次 (69%) 发生在接受定期预防治疗的患者中。这导致定期血浆治疗时急性发作的年发生率为 0.36（95% 置信区间 [CI]，0.29-0.44），不定期血浆治疗时急性发作的年发生率为 0.41（95% CI，0.30-0.56）。超过三分之一的急性发作 (n = 51) 发生在 40 岁儿童中 (1.18 [95% CI, 0.88-1. 55] vs 0.14 [95% CI, 0.08-0.23])。所使用的预防性血浆输注方案不足以预防许多患者的急性发作。这种治疗方案很繁重，护理人员、患者及其监护人不愿意开始定期输注血浆，而儿童尤其会从中受益。
Hereditary thrombotic thrombocytopenic purpura (hTTP) is a rare thrombotic microangiopathy characterized by severe congenital ADAMTS13 deficiency and recurring acute episodes causing morbidity and premature death. Information on the annual incidence and severity of acute episodes in patients with hTTP is largely lacking. This study reports prospective data on 87 patients from the Hereditary TTP Registry (clinicaltrials.gov #NCT01257269) for survival, frequency, and severity of acute episodes from enrollment until December 2019. The 87 patients, followed up for a median of 4.2 years (range, 0.01-15 years), had a median age at overt disease onset and at clinical diagnosis of 4.6 years and 18 years (range, 0.0-70 years for both), respectively. Forty-three patients received regular plasma prophylaxis, whereas 22 did not, and treatment changed over time or was unknown in the remaining 22. Forty-three patients experienced 131 acute episodes, of which 91 (69%) occurred in patients receiving regular prophylaxis. This resulted in an annual incidence of acute episodes of 0.36 (95% confidence interval [CI], 0.29-0.44) with regular plasma treatment and of 0.41 (95% CI, 0.30-0.56) without regular plasma treatment. More than one-third of acute episodes (n = 51) were documented in children 40 years (1.18 [95% CI, 0.88-1. 55] vs 0.14 [95% CI, 0.08-0.23]). The prophylactic plasma infusion regimens used were insufficient to prevent acute episodes in many patients. Such regimens are burdensome, and caregivers, patients, and their guardians are reluctant to start regular plasma infusions, from which children particularly would benefit.