遗传性血管性水肿:10例病例报道

Hereditary Angioedema: a Report of Ten Cases

  • 摘要: 遗传性血管性水肿(hereditary angioedema, HAE)是一种罕见的常染色体显性遗传病,以反复发作的皮肤和/或黏膜水肿为特征,其中喉头水肿可危及生命。本文报道昆明医科大学第一附属医院2022年10月至2025年3月确诊为HAE的10例患者的一般情况、诊疗过程及现状。其中1型8例,2型2例。患者年龄17~55岁,中位确诊年龄36岁,中位发病年龄17岁,中位延迟确诊时间达13.5年,最长延迟40年,最短4年。临床表现多样,以反复皮肤和/或黏膜水肿为主,10例患者均出现过上呼吸道黏膜水肿,其中5例以消化道水肿表现为突出,伴腹痛、腹胀。本文通过报道10例HAE确诊病例的临床特征,为临床医师的诊疗工作提供参考。

     

    Abstract: Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder characterized by recurrent episodes of skin and/or mucosal edema, with laryngeal edema posing a life-threatening risk. This paper reports the general conditions, diagnostic and therapeutic processes, and current status of 10 patients diagnosed with HAE at the First Affiliated Hospital of Kunming Medical University between October 2022 and March 2025. Eight cases were type 1 and two were type 2. Patient ages ranged from 17 to 55 years, with a median age at diagnosis of 36 years and a median age at onset of 17 years. The median diagnostic delay was 13.5 years, with the longest delay being 40 years and the shortest 4 years. Clinical presentations were diverse, primarily involving recurrent skin and/or mucosal edema. All 10 patients presented with upper respiratory tract mucosal edema, five cases exhibited prominent gastrointestinal edema accompanied by abdominal pain and distension. By reporting the clinical characteristics of 10 confirmed cases of HAE, this paper aims to provide a reference for clinicians in their diagnosis and treatment.

     

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