Four patients with hereditary angioedema with different initial symptoms and clinical features
10.5847/wjem.j.1920-8642.2025.060
- Author:
Jiao Chen
1
Author Information
1. Department of Emergency Medicine Center, Sichuan Provincial People’s Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China
- Publication Type:Case Reports
- Keywords:
hereditary angioedema;
C1 inhibitor
- From:
World Journal of Emergency Medicine
2025;16(3):283-185
- CountryChina
- Language:English
-
Abstract:
Hereditary angioedema (HAE) is a rare, autosomal dominant inherited disorder with an incidence of approximately 1 in 50,000. Among its various tapes, HAE with normal C1 inhibitor levels (HAE-nC1-INH) is exceptionally rare.[1] HAE symptoms include recurrent episodes of skin and mucosal edema that can occur anywhere in the body.[1-4] Laryngeal edema is life-threatening, as it can lead to airway obstruction and potentially fatal suffocation.[1-3] Edema of the gastrointestinal mucosa may cause abdominal pain, vomiting, and symptoms that are often misdiagnosed as acute abdomen.[1-4] This study included four patients, including one with HAE-nC1-INH (genetic testing revealed a heterozygous mutation in the KNG1 gene (c.1404G>C: p.Q468H)) and three with HAE due to C1 inhibitor deficiency (HAE-C1-INH). This case series aims to increase knowledge of HAE by illustrating its diverse clinical presentations and emphasizing features that may prompt clinical suspicion and facilitate timely diagnosis.
