遗传性血管性水肿消化科诊疗路径

Diagnosis and treatment pathway for hereditary angioedema in the gastroenterology department

遗传性血管性水肿(HAE)是一种罕见的遗传性疾病,表现为皮肤或黏膜水肿,常累及皮肤、胃肠道和呼吸道黏膜。胃肠道HAE发作主要表现为剧烈腹痛、恶心、呕吐等,常被误诊为急腹症,严重影响患者的生活质量和寿命。因此,提高消化科医师对HAE的认识至关重要。基于此,专家组编写了此诊疗路径,对HAE病因、临床表现、在消化科的诊疗路径、鉴别诊断、疾病管理等内容进行了系统梳理,以期促进消化科对HAE的早期诊断和有效治疗。

Hereditary angioedema(HAE)is a rare genetic disease characterized by episodes of cutaneous or mucosal edema,primarily affecting the skin,the abdomen,and the upper respiratory tract.Gastrointestinal symptoms,including severe abdominal pain,nausea,and vomiting,are common manifestations of HAE,and these symptoms are often misdiagnosed as acute abdomen.HAE significantly impacts the quality of life and life span of patients.Therefore,it is crucial to improve the disease awareness of HAE among gastroenterologists.Based on this,the panel of expert has developed this diagnosis and treatment pathway.This pathway of expert systematically summarizes the pathogeny,clinical manifestations,diagnosis and treatment pathway in gastroenterology department,differential diagnosis,and disease management of HAE,so as to improve early diagnosis and effective treatment of HAE in gastroenterology department.