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World J Gastroenterol. Nov 14, 2026; 32(42): 120674
Published online Nov 14, 2026. doi: 10.3748/wjg.120674
Published online Nov 14, 2026. doi: 10.3748/wjg.120674
Tangier disease with heterozygous mutations in the ABCA1 gene: A case report
Xiu-Fang Xu, Li-Ying Wang, Department of Gastroenterology, Shaoxing Shangyu People’s Hospital, Shaoxing 312300, Zhejiang Province, China
Jie-Wei Wang, Chun-Xiao Chen, Department of Gastroenterology, The First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310000, Zhejiang Province, China
Author contributions: Xu XF contributed to writing-original draft and investigation; Wang LY contributed to resources and supervision; Wang JW contributed to writing-review and editing of the draft, and formal analysis; Chen CX contributed to validation; Wang LY and Chen CX contributed to conceptualization; Xu XF and Wang LY contributed to data curation. All authors have read and approved the final version to be published.
AI contribution statement: AI tools (specifically DeepSeek) were used solely for linguistic refinement. No AI tool was involved in the generation of research data, interpretation of results, or formulation of conclusions. All AI-generated outputs were critically reviewed and revised by the authors.
Informed consent statement: Written informed consent was obtained from the patient for publication of this case report and any accompanying images.
Conflict-of-interest statement: All 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: 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
Received: March 12, 2026
Revised: May 11, 2026
Accepted: June 30, 2026
Published online: November 14, 2026
Processing time: 200 Days and 20.2 Hours
Revised: May 11, 2026
Accepted: June 30, 2026
Published online: November 14, 2026
Processing time: 200 Days and 20.2 Hours
Core Tip
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.