Advances in hereditary angioedema in the modern treatment era in China: a focus on diagnosis, treatment, and prognosis

中国现代治疗时代遗传性血管性水肿的进展:以诊断、治疗和预后为重点

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Abstract

BACKGROUND: Hereditary angioedema (HAE) is a rare, potentially life-threatening genetic disorder that is caused by C1-inhibitor (C1INH) deficiency or dysfunction. This scoping review sought to map recent advances in the management of HAE among patients in China. MATERIALS AND METHODS: A comprehensive literature search was conducted using relevant keywords across the databases PubMed, Embase, the Cochrane Library, ClinicalTrial.gov, and Chinese databases such as the China National Knowledge Infrastructure and Wanfang. The search covered publications from database inception through September 2024. Data was extracted on patient characteristics, disease manifestations, diagnostic approaches, treatments, clinical outcomes, and quality of life (QoL). The selection of articles followed predefined inclusion criteria and was conducted in adherence to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR) guidelines. RESULTS: A total of 92 articles were included in this scoping review. Across the literature, the diagnosis of HAE was primarily based on serum complement assessment, particularly measurements of C4 and C1INH levels, along with family history and clinical manifestations. Danazol was reported as the primary treatment in previous studies; however, more recent studies emphasized the increasing use of lanadelumab and icatibant. Icatibant was shown to provide rapid symptom relief during acute HAE attacks, whereas lanadelumab demonstrated effectiveness as a long-term prophylactic therapy by reducing the frequency of attacks. The reviewed studies indicated fewer HAE-related deaths reported in studies published after 2021 compared with previous studies (129 deaths reported up to 2021; five deaths reported between 2021 and September 2024). This reduction may be attributed to increased disease awareness, earlier diagnosis, and advances in therapeutic management. In parallel, several studies reported improvements in angioedema-related quality of life (QoL) scores among patients with HAE in China. CONCLUSION: Emerging therapies such as lanadelumab and icatibant are effective in reducing the frequency of attacks and providing rapid symptom relief in Chinese patients with HAE. Nevertheless, further research is warranted to optimize HAE management strategies and to address existing gaps in the evidence within the Chinese population. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-026-04314-5.

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