Coppola Antonio, Zani Matteo, Quintavalle Gabriele, Focosi Daniele, Franchini Massimo
Regional Hub Center for Hemophilia and Congenital Bleeding Disorders, University Hospital of Parma, Parma, Italy.
Department of Transfusion Medicine and Hematology, Carlo Poma Hospital, Mantua, Italy.
Semin Thromb Hemost. 2025 Feb;51(1):10-17. doi: 10.1055/s-0044-1796629. Epub 2024 Nov 29.
Historically, the aim of treatment for hemophilia, the congenital X-linked hemorrhagic disorder due to deficiencies of coagulation Factor (F) VIII (hemophilia A) or FIX (hemophilia B), has been the replacement through factor concentrates, whose regular administration (i.e., prophylaxis) has been shown to be highly effective in preventing bleeding complications and it is currently considered the gold standard of hemophilia treatment. However, continuous technological progress (i.e., plasma-derived factor concentrates, recombinant standard and extended half-life [EHL] products) has allowed clinicians operating at hemophilia treatment centers to individualize the management of persons with hemophilia, improving outcomes, adherence to therapy, and their quality of life. The achievement of normal hemostasis, the final goal that now seems possible with new-generation EHL products, non-replacement and gene therapies, will translate into normalization of life for persons with hemophilia, also addressing health equity (i.e., rendering them indistinguishable from their healthy peers). The evolution of hemophilia treatment and, in parallel, of therapeutic targets in the management of hemophilia patients over the last decades will be critically discussed in this narrative review.
从历史上看,血友病是一种由于凝血因子(F)VIII缺乏(A型血友病)或FIX缺乏(B型血友病)引起的先天性X连锁出血性疾病,其治疗目标一直是通过因子浓缩物进行替代治疗,定期给药(即预防治疗)已被证明在预防出血并发症方面非常有效,目前被认为是血友病治疗的金标准。然而,持续的技术进步(即血浆源性因子浓缩物、重组标准品和延长半衰期[EHL]产品)使血友病治疗中心的临床医生能够对血友病患者的管理进行个体化,改善治疗效果、治疗依从性及其生活质量。新一代EHL产品、非替代疗法和基因疗法现在似乎有可能实现正常止血这一最终目标,这将使血友病患者的生活正常化,也有助于解决健康公平问题(即使他们与健康同龄人无异)。本叙述性综述将批判性地讨论过去几十年来血友病治疗的演变以及血友病患者管理中治疗靶点的演变。