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Publication Name World Journal of Gastrointestinal Endoscopy
Manuscript ID 113096
Country Japan
Category Gastroenterology & Hepatology
Manuscript Type Case Report
Article Title Hereditary angioedema with recurrent abdominal pain in a patient with a novel SERPING1 gene mutation: A case report
Manuscript Source Unsolicited Manuscript
All Author List Ko Matsuura, Chie Ueda, Chinami Hashimura, Hiromasa Yakushiji and Takahiko Horiuchi
Funding Agency and Grant Number
Corresponding Author Ko Matsuura, MD, Department of Gastroenterology, Kishiwada Tokushukai Hospital, 4-27-1 Kamori-cho, Kishiwada 596-0042, Osaka, Japan. matuurac90@gmail.com
Key Words C1 inhibitor; Complement C4; SERPING1 gene; Frameshift mutation; Hereditary angioedema; Gastrointestinal edema; Case report
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 owing to the potentially life-threatening nature of the condition.
Citation 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; In press
Received
2025-08-27 11:26
Peer-Review Started
2025-08-27 11:27
First Decision by Editorial Office Director
2025-09-03 06:45
Return for Revision
2025-09-03 06:45
Revised
2025-11-20 09:30
Publication Fee Transferred
2025-11-21 01:48
Second Decision by Editor
2026-02-02 02:50
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director
2026-02-03 02:28
Articles in Press
2026-02-03 02:28
Edit the Manuscript by Language Editor
Typeset the Manuscript
ISSN 1948-5190 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
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