病例报告：一个中国家庭中的两例遗传性血管性水肿。
Case Report: Two cases of hereditary angioedema in a Chinese family.
作者信息
Guo Yuanli, Qi Manli, Ding Jinluan
机构信息
Department of Dermatology, Tianjin Union Medical Center, The First Affiliated Hospital of Nankai University, Tianjin, China.
出版信息
Front Allergy. 2025 Jun 2;6:1587904. doi: 10.3389/falgy.2025.1587904. eCollection 2025.
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.
背景
遗传性血管性水肿（HAE）是一种危及生命的疾病，其特征为反复出现不对称性皮肤和黏膜水肿。它是一种罕见的常染色体显性遗传病，死亡率为8.6%。由于在中国HAE仍未得到充分认识，因此关于HAE的家族调查鲜有报道。
病例报告
我们报告了两例HAE病例以及在中国河北省进行的一次家族调查。先证者为一名有7年以上水肿病史的女性。她在50多岁时因一次危及生命的窒息发作后被诊断为I型HAE。她的哥哥最初被诊断为症状较轻。
结论
在我们的家族调查中确定了两名确诊患者和三名疑似患者。家族调查是识别无症状患者和预防发作的重要方法。对于挽救突发死亡尤其是窒息死亡的患者具有重要价值。
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