Objective To summarize the gastrointestinal manifestations and diagnostic and therapeutic experience of hereditary angioedema (HAE), enhancing early recognition of this rare disease. Methods The clinical data, genotype analysis results, treatment process, and follow-up data of HAE patients who visited the Department of Gastroenterology and Hepatology of West China Hospital of Sichuan University between May 2023 and December 2024 due to abdominal pain were retrospectively collected and summarized for analysis. Results A total of 10 patients with abdominal HAE were included, including 2 males and 8 females. The age range of the patients was 30-71 years old, and 6 patients were found to have HAE through family screening. Most patients first developed the disease during adolescence or youth, and there was a significant time interval between the onset and diagnosis, ranging from 3 to 42 years. Patients mainly presented with gastrointestinal symptoms, with the first symptoms usually being abdominal pain (the most common) and vomiting, accompanied by nausea and other symptoms. Five patients were hospitalized multiple times due to severe gastrointestinal symptoms, and all patients had significantly reduced levels of complement C4, with a C1-esterase inhibitor function of less than 7%. Three patients had a C1-esterase inhibitor concentration below the normal range. All patients were detected with SERPING1 gene mutations. During the follow-up period, 6 patients received preventive treatment. Conclusion Gastrointestinal symptoms are one of the important clinical manifestations of HAE and are often misdiagnosed as other gastrointestinal diseases.
