Regling Katherine, Callaghan Michael U, Sidonio Robert
Pediatric Hematology Oncology, Children's Hospital of Michigan, Detroit, MI, USA.
Central Michigan University School of Medicine, Mount Pleasant, MI, USA.
Pediatric Health Med Ther. 2022 Feb 15;13:27-35. doi: 10.2147/PHMT.S293246. eCollection 2022.
Hemophilia A is the most common severe inherited bleeding disorder in males. Initial treatment strategies focused on the use of factor concentrates to prevent joint bleeding and the development of long-term crippling arthropathy. The current standard of care has evolved from regular replacement of factor VIII concentrates which has significantly improved the quality of life for those with severe disease to include and consider novel therapies that augment or bypass the hemostatic pathway (ie, emicizumab, Mim8). Other pipeline therapies that suppress specific natural anticoagulant pathways (ie, antithrombin, TFPI) to reestablish hemostatic balance are under Phase 3 trial investigation. These novel therapeutics have allowed providers more variety in dosing regimens and ease of administration while also maintaining effective bleeding prevention. The possibility of "curative" gene therapy is under exploration, with ongoing clinical trials in adult males.
甲型血友病是男性中最常见的严重遗传性出血性疾病。最初的治疗策略侧重于使用凝血因子浓缩物来预防关节出血和长期致残性关节病的发展。目前的护理标准已从定期替代凝血因子VIII浓缩物发展而来,这显著提高了重症患者的生活质量,进而纳入并考虑增强或绕过止血途径的新型疗法(如艾美赛珠单抗、Mim8)。其他抑制特定天然抗凝途径(如抗凝血酶、组织因子途径抑制物)以重建止血平衡的在研疗法正处于3期试验研究阶段。这些新型疗法使医疗人员在给药方案上有了更多选择,给药也更方便,同时还能有效预防出血。“治愈性”基因疗法的可能性正在探索中,目前正在成年男性中进行临床试验。