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遗传性血友病治疗范式的转变:迈向精准医学。

Paradigm shift for the treatment of hereditary haemophilia: Towards precision medicine.

机构信息

Postgraduation School in Radiodiagnostics, Università degli studi di Milano, Italy.

Dipartimento di Farmacia, Università degli Studi di Napoli "Federico II", Naples, Italy.

出版信息

Blood Rev. 2020 Jan;39:100618. doi: 10.1016/j.blre.2019.100618. Epub 2019 Oct 15.

Abstract

Patients with haemophilia A (HA) or B (HB) experience spontaneous limb- or life-threatening bleedings which are prevented by regular prophylactic intravenous infusions of the deficient coagulation factor (FVIII or FIX). Prophylaxis with subcutaneous long-acting non-factor products that improve in vivo thrombin generation is now under intensive investigation (concizumab, fitusiran) or successfully employed (emicizumab) in haemophilia patients. Both haemophilia patients with/without inhibitors take advantage of non-factor products employed alone. In those who also need bypassing agents (or FVIII concentrates) for breakthrough bleeds, thromboembolic events and/or thrombotic microangiopathy may occur. By enhancing thrombin generation, prothrombotic mutations co-segregating with FVIII/FIX gene mutations may trigger thrombotic episodes in HA patients carrying acquired thrombogenic factors (e.g. venous catheters). A thorough knowledge of individual needs increasingly contributed to improve comprehensive care and personalize treatments in haemophilia. Integrating genomics, lifestyle and environmental data is expected to be key to: 1) identify which haemophilia patients are less likely to benefit from a given intervention; 2) define optimal dosing and scheduling of bypassing agents (or FVIII) to employ in combination with non-factor products; 3) establish tests to monitor in vivo thrombin generation; 4) improve communication and deliver results to individuals. As individual outcomes will be improved and the risk of adverse events minimized, non-factor products will come into wider use within the haemophilia community, and patients will hopefully have no more risks of breakthrough bleeds. The risks of a normal life for a "former haemophilia patient" is likely to change the treatment landscape and the structure of haemophilia Centers.

摘要

患有血友病 A(HA)或 B(HB)的患者会出现自发性肢体或危及生命的出血,通过定期预防性静脉输注缺乏的凝血因子(FVIII 或 FIX)可预防这种出血。目前正在深入研究皮下长效非因子产品(concizumab、fitusiran)或在血友病患者中成功应用(emicizumab)以改善体内凝血酶生成。有/无抑制剂的血友病患者均可单独使用非因子产品。对于需要旁路制剂(或 FVIII 浓缩物)来控制突破性出血、血栓栓塞事件和/或血栓性微血管病的患者,可能会发生这些情况。通过增强凝血酶生成,与 FVIII/FIX 基因突变共分离的促血栓形成突变可能会引发携带获得性血栓形成因子(例如静脉导管)的 HA 患者发生血栓事件。对个体需求的深入了解越来越有助于改善血友病的综合护理和个性化治疗。整合基因组学、生活方式和环境数据有望成为以下方面的关键:1)确定哪些血友病患者不太可能从特定干预措施中获益;2)确定旁路制剂(或 FVIII)与非因子产品联合使用的最佳剂量和方案;3)建立用于监测体内凝血酶生成的检测方法;4)改善沟通并将结果传达给个人。随着个体结果的改善和不良事件风险的降低,非因子产品将在血友病患者群体中得到更广泛的应用,患者有望不再面临突破性出血的风险。“前血友病患者”的正常生活风险可能会改变治疗格局和血友病中心的结构。

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