COMMUNITY CASE STUDY article
Front. Allergy
Sec. Genetics and Epidemiology
This article is part of the Research TopicBradykinin and Histamine Mediated AngioedemaView all 11 articles
Implementation of Genetic Diagnosis and Personalized Management of Hereditary Angioedema in a Chinese Regional Center: A Community Case Study of Three Families
Provisionally accepted
- 1Department of Allergy,People's Hospital of Zhengzhou University;People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, China
- 2Medical Genetics Institute, Zhengzhou University People's Hospital; People's Hospital of Henan University, Henan Key Laboratory of Genetic Diseases and Functional Genomics, Henan Provincial People's Hospital, Zhengzhou, China
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Background: Hereditary angioedema (HAE) remains underrecognized in China, with laryngeal involvement causing high mortality. Feasible diagnostic and management models are urgently needed in resource-limited settings. Objectives: To establish and evaluate a community-oriented HAE diagnosis and management program in central China; characterize clinical and biochemical phenotypes of three families; identify SERPING1 variants; implement personalized therapy and family screening; and summarize replicable elements as a proof-of-concept model. Methods: From September 2022 to August 2025, a standardized HAE workflow integrating clinical assessment, biochemical testing (C4, C1INH concentration/function), and SERPING1 sequencing was established at Henan Provincial People’s Hospital. Three unrelated families (45 members) underwent targeted testing, cascade screening, personalized treatment (on-demand icatibant, lanadelumab prophylaxis), and follow-up using AECT/AE-QoL within digital monitoring. Results: Three pathogenic SERPING1 variants were identified: c.1034G>A (p.Gly345Glu) [HAE type 1], c.1396C>T (p.Arg466Cys) [type 2], and c.1483G>A (p.Val495Ile) [type 1]. Personalized regimens achieved good control; four symptomatic patients showed substantially reduced attack frequency and no severe events over 12–25 months. Conclusion: This community-based, resource-adapted program demonstrates the feasibility of establishing specialized HAE care in developing regions. Key enabling factors include cascade screening, standardized diagnostic workflows, economically adaptable prophylaxis, and digital quality monitoring. The initiative expands the domestic SERPING1 variant spectrum and provides scalable references for future HAE service development.
Keywords: hereditary angioedema, C1 Inhibitor, SERPING1, community case study, genetic diagnosis, China
Received: 08 Sep 2025; Accepted: 24 Oct 2025.
Copyright: © 2025 Du, Meng, Yang, Zhang, Lin, Zhang, Guo and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Wenjin Du, 15890128015@163.com
Siqin Wang, wangsiqin273@126.com
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