Division of Hematology/Oncology, Department of Pediatrics, University of South Florida Morsani College of Medicine, 2 Tampa General Circle, 5th Floor, Tampa, FL 33606, USA.
Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA.
Adv Pediatr. 2022 Aug;69(1):133-147. doi: 10.1016/j.yapd.2022.03.009. Epub 2022 Jun 21.
Hemophilia A is an inherited insufficiency of Factor VIII (FVIII), one of the critical clotting factors. The gold standard for the management of moderate-to-severe hemophilia A is prophylaxis using regular replacement therapy with clotting factor concentrates. Compared with conventional treatment, extended half-life products reduce the burden of frequent factor replacement injections. Of note, up to 30% of patients with hemophilia A receiving prophylactic factor infusions develop "inhibitors," neutralizing anti-FVIII autoantibodies. Therapeutic options for patients with hemophilia A and inhibitors include the immune tolerance induction (ie, eradication of inhibitors) and the management of acute bleeds with bypassing agents and/or emicizumab. Emicizumab is a biphasic monoclonal antibody mimicking activated FVIII, approved for patients with hemophilia A with/without inhibitors. Gene therapy is an emerging therapy for hemophilia A, essentially curing patients with hemophilia A or transforming them to a milder phenotype by establishing continuous endogenous expression of FVIII after one-time treatment.
A 型血友病是一种遗传性的凝血因子 VIII(FVIII)缺乏症,FVIII 是关键凝血因子之一。使用凝血因子浓缩物进行常规替代治疗作为中重度 A 型血友病管理的金标准。与传统治疗相比,延长半衰期产品减少了频繁因子替代注射的负担。值得注意的是,高达 30%接受预防性因子输注的 A 型血友病患者会产生“抑制剂”,即中和抗 FVIII 自身抗体。对于患有 A 型血友病和抑制剂的患者,治疗选择包括免疫耐受诱导(即消除抑制剂)和使用旁路制剂和/或艾美赛珠单抗治疗急性出血。艾美赛珠单抗是一种双相单克隆抗体,模拟激活的 FVIII,批准用于有/无抑制剂的 A 型血友病患者。基因治疗是 A 型血友病的一种新兴疗法,通过单次治疗后持续内源性表达 FVIII,从根本上治愈 A 型血友病患者或使他们转变为更轻微的表型。