Case Report: Two cases of hereditary angioedema in a Chinese family.

IF 3.3 Q2 ALLERGY
Frontiers in allergy Pub Date : 2025-06-02 eCollection Date: 2025-01-01 DOI:10.3389/falgy.2025.1587904
Yuanli Guo, Manli Qi, Jinluan Ding
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引用次数: 0

Abstract

Background: Hereditary angioedema (HAE) is a life-threatening condition characterized by repeated asymmetric cutaneous and mucosal edema. It is a rare autosomal dominant genetic disease with a mortality rate of 8.6%. Family survey of HAE in China is seldom reported since it is still under recognized.

Case report: We reported two cases of HAE and a family survey conducted in Hebei Province, China. The proband was a woman who had edema for over 7 years. She was diagnosed with type I HAE in her 50s after a life-threatening asphyxia attack. Her elder brother was initially diagnosed with mild symptoms.

Conclusion: Two diagnosed and three suspected patients were identified in our family survey. Family surveys are important method for identifying asymptomatic patients and preventing attacks. It is valuable for rescuing people from sudden death, particularly from asphyxia.

病例报告:2例中国家族遗传性血管性水肿。
背景:遗传性血管性水肿(HAE)是一种危及生命的疾病,其特征是反复出现不对称皮肤和粘膜水肿。它是一种罕见的常染色体显性遗传病,死亡率为8.6%。由于对HAE的认识不足,在中国很少有家庭调查的报道。病例报告:我们报告了在中国河北省进行的两例HAE病例和一项家庭调查。先证者为水肿7年以上的女性。在一次危及生命的窒息发作后,她在50多岁时被诊断出患有I型HAE。她的哥哥最初被诊断为轻度症状。结论:家庭调查中发现确诊患者2例,疑似患者3例。家庭调查是识别无症状患者、预防发作的重要方法。它对抢救猝死者,特别是抢救窒息者很有价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
2.80
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