Matsuura K, Ueda C, Hashimura C, Yakushiji H, Horiuchi T. Hereditary angioedema with recurrent abdominal pain in a patient with a novel SERPING1 gene mutation: A case report. World J Gastrointest Endosc 2026; 18(3): 113096 [DOI: 10.4253/wjge.v18.i3.113096]
Corresponding Author of This Article
Ko Matsuura, MD, Department of Gastroenterology, Kishiwada Tokushukai Hospital, 4-27-1 Kamori-cho, Kishiwada 596-0042, Osaka, Japan. matuurac90@gmail.com
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Gastroenterology & Hepatology
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Case Report
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Mar 16, 2026 (publication date) through Mar 18, 2026
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World Journal of Gastrointestinal Endoscopy
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1948-5190
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Matsuura K, Ueda C, Hashimura C, Yakushiji H, Horiuchi T. Hereditary angioedema with recurrent abdominal pain in a patient with a novel SERPING1 gene mutation: A case report. World J Gastrointest Endosc 2026; 18(3): 113096 [DOI: 10.4253/wjge.v18.i3.113096]
World J Gastrointest Endosc. Mar 16, 2026; 18(3): 113096 Published online Mar 16, 2026. doi: 10.4253/wjge.v18.i3.113096
Hereditary angioedema with recurrent abdominal pain in a patient with a novel SERPING1 gene mutation: A case report
Ko Matsuura, Chie Ueda, Chinami Hashimura, Hiromasa Yakushiji, Takahiko Horiuchi
Ko Matsuura, Chie Ueda, Department of Gastroenterology, Kishiwada Tokushukai Hospital, Kishiwada 596-0042, Osaka, Japan
Chinami Hashimura, Center for Research, Education, and Treatment of Angioedema, Fukuoka 812-8582, Japan
Hiromasa Yakushiji, Department of Emergency, Yakushiji Jikei Hospital, Soja 719-1126, Okayama, Japan
Takahiko Horiuchi, Department of Rheumatology and Collagen Diseases, Fukuoka City Hospital, Hakata 812-0046, Fukuoka, Japan
Author contributions: Matsuura K, Ueda C, Hashimura C, and Horiuchi T contributed to conceptualization and design; Matsuura K and Ueda C contributed to data analysis and interpretation; Matsuura K and Yakushiji H contributed to drafting of the article; Matsuura K, Yakushiji H, and Horiuchi T contributed to critical revision of the article for important intellectual content; and all authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for the publication of this report and any accompanying images.
Conflict-of-interest statement: The authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Ko Matsuura, MD, Department of Gastroenterology, Kishiwada Tokushukai Hospital, 4-27-1 Kamori-cho, Kishiwada 596-0042, Osaka, Japan. matuurac90@gmail.com
Received: August 27, 2025 Revised: November 20, 2025 Accepted: February 3, 2026 Published online: March 16, 2026 Processing time: 198 Days and 16 Hours
Abstract
BACKGROUND
Hereditary angioedema (HAE) is a rare, potentially fatal disorder that may present solely with non-specific gastrointestinal symptoms.
CASE SUMMARY
We report a 30-year-old woman with a 10-year history of recurrent, unexplained abdominal pain and vomiting, without any cutaneous edema. The initial presentation suggested acquired angioedema because of the lack of a clear family history. However, the early age of onset prompted genetic testing. Lower endoscopy performed during an acute attack provided crucial evidence, revealing marked edema of the terminal ileum. Laboratory tests demonstrated low complement C4 levels and severely reduced C1 esterase inhibitor activity. Genetic analysis revealed of a novel heterozygous frameshift mutation in SERPING1 (p.Thr285Tyrfs*20, c.852dupT), establishing the diagnosis of HAE type 1.
CONCLUSION
HAE can be fatal from laryngeal edema and intestinal involvement and should be considered in patients with recurrent abdominal pain.
Core Tip: This study highlights that hereditary angioedema should be considered in cases of recurrent abdominal pain, even in the absence of typical edema or family history. Although the initial presentation mimicked acquired angioedema, the early onset prompted SERPING1 gene testing, revealing a novel frameshift mutation. This case emphasizes the importance of genetic confirmation for hereditary angioedema diagnosis in atypical cases, as timely diagnosis is crucial because the condition can be potentially life-threatening.
