Abstract：
Hereditary angioedema (HAE) due to C1-inhibitor deficiency or dysfunction is a rare genetic disorder that causes recurrent episodes of swelling in various parts of the body. Treatment goals of HAE aim to \"normalize\" life for all patients; however, lack of diagnostic facilities and limited access to effective treatment options in developing nations cause delays in diagnosis and place a significant burden on patients. In this review, we aim to highlight the burden of disease caused by C1-inhibitor HAE across the Asia-Pacific region, considering its epidemiology, morbidity and mortality, and socioeconomic and psychological impact. We also review the availability of guideline-recommended diagnostic facilities and treatments, and how patients are currently managed. Data were collected from published literature and HAE experts in the region, who provided information regarding diagnosis and management in their countries. Current practice was reviewed against international guidelines, as well as local guidelines/consensus used in Australia, Japan, and China. Suggestions are provided for improving the time to diagnosis in the region, increasing access to guideline-recommended treatments, and providing support to reduce the burden on patients and caregivers. There is an urgent need to improve HAE services and provide access to life-saving treatment in developing countries, and efforts should be made to increase awareness of guideline recommendations in high-income economies that do not currently provide long-term prophylactic treatments.
摘要：
由于C1抑制剂（C1-INH）缺乏或功能障碍引起的遗传性血管性水肿（HAE）是一种罕见的遗传性疾病，可引起身体各个部位反复发作的肿胀。HAE的治疗目标旨在使所有患者的生活“正常化”；然而，发展中国家缺乏诊断设施和获得有效治疗方案的机会有限，导致诊断延误，并给患者带来沉重负担。在这次审查中,我们的目标是强调亚太地区C1-INH-HAE引起的疾病负担，考虑到它的流行病学，发病率和死亡率，社会经济和心理影响。我们还审查了指南推荐的诊断设施和治疗方法的可用性，以及患者目前的管理方式。数据来自该地区已发表的文献和HAE专家，他们提供了有关本国诊断和管理的信息。对照国际准则审查了目前的做法，以及澳大利亚使用的当地指南/共识，日本和中国。提出了改善该地区诊断时间的建议，增加获得指南推荐的治疗方法，并提供支持以减轻患者和护理人员的负担。在发展中国家，迫切需要改善HAE服务并提供挽救生命的治疗，应努力提高目前不提供长期预防性治疗的高收入经济体对指南建议的认识。
