Xu XF, Wang JW, Wang LY, Chen CX. Tangier disease with heterozygous mutations in the ABCA1 gene: A case report. World J Gastroenterol 2026; 32(42): 120674 [DOI: 10.3748/wjg.120674]
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Xu XF, Wang JW, Wang LY, Chen CX. Tangier disease with heterozygous mutations in the ABCA1 gene: A case report. World J Gastroenterol 2026; 32(42): 120674 [DOI: 10.3748/wjg.120674]
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).
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
Abstract
BACKGROUND
The unusual and extensive endoscopic changes in the gastrointestinal mucosa drew our clinical attention, ultimately leading to the diagnosis of a rare case of Tangier disease with a heterozygous mutation in the ABCA1 gene. Tangier disease is an extremely rare autosomal recessive disorder caused by mutations in the ABCA1 gene, and is classified as a genetic metabolic disease. To date, more than 100 cases of Tangier disease have been reported worldwide, and there is currently no unified diagnostic standard, with clinical manifestations serving as an important basis for diagnosis.
CASE SUMMARY
A 34-year-old male patient underwent gastrointestinal endoscopy during a routine health check-up at our outpatient clinic, which revealed abnormal changes in the intestinal mucosa. Pathology indicated foam cell aggregation. Further auxiliary tests showed an abnormal lipid profile, extremely low serum levels of high-density lipoprotein cholesterol and apolipoprotein A-I, accompanied by massive splenomegaly. Genetic testing subsequently confirmed the rare diagnosis of Tangier disease.
CONCLUSION
The unusual and extensive gastrointestinal mucosal abnormalities detected under endoscopy reflect the core pathophysiological changes of Tangier disease, massive deposition of cholesteryl esters in the mononuclear phagocyte system-rich gastrointestinal mucosa, leading to foam cell infiltration. This indicates that the identification of gastrointestinal mucosal abnormalities have diagnostic and therapeutic guidance value. Early recognition of Tangier disease is essential for appropriate management, including monitoring for potential cardiovascular and neurological complications. Genetic testing is crucial for confirming the diagnosis, especially in cases with a suggested family history.
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.
