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Publication Name World Journal of Gastroenterology
Manuscript ID 120674
DOI 10.3748/wjg.120674
Country China
Category Health Care Sciences & Services
Manuscript Type Case Report
Article Title Tangier disease with heterozygous mutations in the ABCA1 gene: A case report
Manuscript Source Unsolicited Manuscript
All Author List Xiu-Fang Xu, Jie-Wei Wang, Li-Ying Wang and Chun-Xiao Chen
Funding Agency and Grant Number
Corresponding Author Li-Ying Wang, Department of Gastroenterology, Shaoxing Shangyu People’s Hospital, No. 517 Shimin Avenue, Baiguan Subdistrict, Shangyu 312300, Zhejiang Province, China. 2847027544@qq.com
Key Words Tangier disease; ABCA1 gene; Gastrointestinal mucosal abnormalities; Splenomegaly; High-density lipoprotein cholesterol
Core Tip We report a rare case of Tangier disease. The final diagnosis was established based on abnormal gastrointestinal mucosal changes found on endoscopy, the patient’s medical history and family history, and gene tests. Tangier disease is a rare inherited metabolic disorder characterized by familial high-density lipoprotein deficiency. The main features of this disease include extremely low plasma high-density lipoprotein levels and cholesterol accumulation in tissue macrophages, which can involve multiple organ systems. Therefore, early recognition and diagnosis are crucial for guiding clinical management.
Citation Xu XF, Wang JW, Wang LY, Chen CX. Tangier disease with heterozygous mutations in the ABCA1 gene: A case report. World J Gastroenterol 2026; In press
PDF 120674-in-press.pdf
Received
2026-03-12 02:03
Peer-Review Started
2026-03-12 02:03
First Decision by Editorial Office Director
2026-04-23 09:43
Return for Revision
2026-04-23 09:43
Revised
2026-05-11 11:05
Publication Fee Transferred
2026-05-13 11:46
Second Decision by Editor
2026-06-30 02:42
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director
2026-06-30 07:30
Articles in Press
2026-06-30 07:30
Edit the Manuscript by Language Editor
Typeset the Manuscript
ISSN 1007-9327 (print) and 2219-2840 (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/
Copyright ©Author(s) (or their employer(s)) 2026. No commercial re-use. See Permissions. Published by Baishideng Publishing Group Inc.
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