Four patients with hereditary angioedema with different initial symptoms and clinical features

doi:10.5847/wjem.j.1920-8642.2025.060

World Journal of Emergency Medicine ›› 2025, Vol. 16 ›› Issue (3): 283-285.doi: 10.5847/wjem.j.1920-8642.2025.060

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Four patients with hereditary angioedema with different initial symptoms and clinical features

Jiao Chen¹, Ruiyu Wang¹, Shun Zhang¹, Yang Wang¹, Ying Chen², Xiaohong Zhang¹(), Chuanzhu Lyu¹()

¹Department of Emergency Medicine Center, Sichuan Provincial People’s Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China
²Emergency Department, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China

Received:2025-01-06 Accepted:2025-04-10 Online:2025-05-19 Published:2025-05-01
Contact: Xiaohong Zhang, Email: 2653099978@qq.com;Chuanzhu Lyu, Email: lvchuanzhu677@126.com

Abstract

Jiao Chen, Ruiyu Wang, Shun Zhang, Yang Wang, Ying Chen, Xiaohong Zhang, Chuanzhu Lyu. Four patients with hereditary angioedema with different initial symptoms and clinical features[J]. World Journal of Emergency Medicine, 2025, 16(3): 283-285.

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References 9

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7	Bafunno V, Firinu D, D’Apolito M, Cordisco G, Loffredo S, Leccese A, et al. Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. J Allergy Clin Immunol. 2018; 141(3): 1009-17. doi: S0091-6749(17)30921-1 pmid: 28601681
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Parameters	Patient 1	Patient 2	Patient 3	Patient 4
Age, years	33	48	30	27
Sex	Female	Female	Female	Female
C1-INH plasma level, µg/mL	37.16	34.83	11.26	59.00
C1-INH function, %	116.39	<7	<7	<7
C4 plasma level, µg/mL	70.78	70.42	48.86	142.76
Genetic mutation	KNG1	No pathogenic variant found	-	-
Age at onset of HAE symptoms, years	31	35	20	-
Family history of HAE	-	Daughter (patient 4) with HAE-C1-INH	Aunt (patient 2) had HAE-C1-INH	Mother (patient 2) with HAE-C1-INH
Location of swelling	Face	Face, abdomen, extremities	Hands	Normal
Treatment	Lanarimumab	Lanarimumab	-	-
Patient improvement in frequency and/or severity of HAE attacks (Yes/No)	No	Yes	-	-

Four patients with hereditary angioedema with different initial symptoms and clinical features

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