成年人重型血友病A预防及治疗现状与存在问题

Prophylaxis in adult patients with severe hemophilia A： prevention and treatment current status and problems

血友病A是一种由于凝血因子Ⅷ（FⅧ）基因缺陷，导致血浆FⅧ含量不足或功能缺陷，而引起X染色体连锁的隐性遗传性出血性疾病。重型血友病（SH）A（FⅧ：C〈1％）的特征性临床表现为自发性关节和肌肉反复出血，若不及时治疗可导致关节畸形，重者可致残，严重影响患者日常生活能力和生活质量。对于儿童SHA患者，预防治疗已成为世界血友病联盟（WFH）推荐的标准治疗方案；但对大多数成年人SHA患者而言，因已经存在关节损害，其能否从预防治疗中获益仍有争议。本文从疗效、个体化治疗、药物经济学、评价工具等方面，就成年人SHA患者预防治疗的现状和存在问题作一综述。

Hemophilia A is a hereditary, X-linked recessive bleeding disorder caused by deficiency or dysfunction of coagulation factor Ⅷ（FⅧ） in plasma. Patients with severe hemophilia A （SHA） have FⅧ activity〈1% and are prone to frequent spontaneous bleeding particularly in joints and muscles. Recurrent joint bleeding can lead to chronic arthropathy, and then affect activities of daily living and quality of life of these patients. Prophylaxis, namely regular infusion of coagulation factor concentrate, has been demonstrated effectiveness in preventing hemarthrosis in children with SHA and is recommended as the management of choice by the World Federation of Hemophilia （WFH）. However, its role in adults with SHA is still debated. In this review, authors focus on the benefits, cost, individualization and evaluation tools of the prophylaxis in adult patients with SHA.