血友病A的治疗进展Update on the Treatment of Haemophilia A DOI: 10.12677/ACM.2023.133570, PDF, HTML, XML, 被引量 下载: 477 浏览: 758 作者: 屈泽欣, 肖剑文：重庆医科大学附属儿童医院血液科，重庆 关键词: 血友病A；替代疗法；非替代疗法；基因疗法；Hemophilia A； Alternative Therapies； Non-Alternative Therapies； Gene Therapy 摘要: 血友病A是一种先天性出血性疾病。治疗目标是防止出血，降低与关节损伤有关的长期并发症的风险，并通过维持适当的因子VIII [FVIII]水平来减少出血并改善生活质量。近年来，血友病的治疗有了巨大的突破。在此，我们对血友病A的治疗进行了回顾，发现替代疗法的改变使血友病患者的出血率显著下降，但抑制剂的问题也日益凸显，此外，各种新型治疗方式也纷纷涌现出来。例如延长半衰期的凝血因子产品、模拟FVIII凝血功能的双特异性抗体和基因治疗等，为血友病的治疗带来新的曙光。同时也讨论了如何更好地从我国实际情况出发贯彻落实血友病综合关怀模式。 Abstract: Haemophilia A is a congenital bleeding disorder. The therapeutic goal is to prevent bleeding, reduce the risk of long-term complications associated with joint damage, and reduce bleeding and improve the quality of life by maintaining the appropriate level of Factor VIII [FVIII]. In recent years, there have been tremendous breakthroughs in the treatment of haemophilia. Here we review the chang-ing treatment of haemophilia A, the transition of alternative treatment modes evidently decreased the incidence of haemophilia, but inhibitor issues were also gradually highlighted. In addition, var-ious new treatment methods have also emerged, such as extended half-life clotting factor products, dual specific antibodies to mimic the coagulation function of FVIII and gene therapy, bringing a new light to the treatment of haemophilia. At the same time, how to better implement the comprehen-sive care model of haemophilia from the actual situation of our country has also been discussed. 文章引用：屈泽欣, 肖剑文. 血友病A的治疗进展[J]. 临床医学进展, 2023, 13(3): 3973-3978. https://doi.org/10.12677/ACM.2023.133570
1. 引言
血友病A (HA)即凝血因子VIII (FVIII)缺乏或功能障碍引起的遗传性出血性疾病 [1]，因基因突变导致X染色体上的缺陷，男性受累明显，女性则是携带者，但亦可能受其影响及出现出血现象。血友病A按照FVIII的活性程度可划分为重型(5~40 IU/dL)。临床表现与血浆凝血因子缺乏的情况基本一致，轻度病人出血较少，仅在严重创伤或大型手术后出现；重型病人自幼即可出现自发性出血，主要发生在关节和肌肉，如果这些出血得不到适当的治疗，肌肉骨骼系统可能会受到慢性损害，亦可能出现消化道、泌尿道、中枢神经系统等单独或多脏器出血表现，以及拔牙后出血无法控制等情况；中间型HA患者的临床表现则介于两者之间 [2]。而近年来由于政府及医保的支持力度越来越大，新药物及治疗手段也随之投入临床，使血友病患者的诊疗条件得到大幅度改善 [3]，
