ArticleFrontiers in allergy2025
Implementation of genetic diagnosis and personalized management of hereditary angioedema in a Chinese regional center: a community case study of three families.
Article in Frontiers in allergy, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Beyond the Index Case: A Practical Framework for Cascade Family Screening in Hereditary Angioedema.Clinical reviews in allergy & immunology · 2026Review
- A novel SERPING1 splice-site variant (c.1029 + 2T > A) causing hereditary angioedema type I: functional characterization and clinical analysis.Orphanet journal of rare diseases · 2026Article
- Advances in hereditary angioedema in the modern treatment era in China: a focus on diagnosis, treatment, and prognosis.Orphanet journal of rare diseases · 2026Review
- Diagnostic delay,Frontiers in allergy · 2026Article
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Authors and funding
8 authors.
Funding
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Abstract
Background: Hereditary angioedema (HAE) remains significantly underdiagnosed and misdiagnosed in China, with laryngeal involvement leading to high mortality rates, creating an urgent need for exploring feasible diagnostic and management approaches in resource-limited settings. Objectives: To establish and evaluate a community-oriented comprehensive HAE diagnosis and management program at a regional center in central China; characterize the clinical and biochemical phenotypes of three unrelated families; identify Methods: From September 2022 to August 2025, we established a systematic workflow for suspected HAE cases at Henan Provincial People's Hospital, integrating clinical assessment, biochemical testing, and genetic analysis. Three unrelated families (45 subjects total) were enrolled. The program included standardized clinical assessment and real-time biochemical screening (C4, C1 inhibitor concentration/function), targeted Results: Family 1: A heterozygous missense variant c.1034G > A (p.Gly345Glu) was detected in exon 7 of Discussion & conclusion: 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
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