Implementation of genetic diagnosis and personalized management of hereditary angioedema in a Chinese regional center: a community case study of three families
This community program represents a proof-of-concept demonstrating what is possible in establishing specialized HAE services in resource-limited settings. Key facilitating factors included cascade screening and genetic counseling, standardized testing pathways and variant classification, flexible prophylactic strategies adapted to economic conditions, and electronic quality and outcome monitoring. This program has expanded the domestic <i>SERPING1</i> variant spectrum and provides preliminary insights and references for the future development of HAE services.
Authors
- Kehu Yang (ORCID: https://orcid.org/0000-0001-7864-3012)
- Zhao‐Ji Meng
- Siqin Wang (ORCID: https://orcid.org/0000-0003-3601-7827)
- Wenchao Zhang (ORCID: https://orcid.org/0000-0001-8985-2186)
- Xianghua Lin
- Wenjin Du
- Wei-Li Guo (ORCID: https://orcid.org/0000-0002-3952-2389)
- Qiuxing Zhang
Institutions
- Zhengzhou University (CN)
- Henan Provincial People's Hospital (CN)
- Zhengzhou People's Hospital (CN)
Publication Details
- Journal
- Frontiers in Allergy
- Published
- 2025-11-12
- DOI
- https://doi.org/10.3389/falgy.2025.1696666
- Citations
- 1
- Primary Topic
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Type
- article
- Field-Weighted Citation Impact
- 1.63