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Cheng H, Hu LH, Wang GQ, Huo N, Wang Y. Gilbert syndrome masked by recurrent choledocholithiasis: A case report. World J Gastroenterol 2027; 33(1): 123590 [DOI: 10.3748/wjg.123590]
World J Gastroenterol. Jan 7, 2027; 33(1): 123590 Published online Jan 7, 2027. doi: 10.3748/wjg.123590
Gilbert syndrome masked by recurrent choledocholithiasis: A case report
Hao Cheng, Lin-Hui Hu, Gui-Qiang Wang, Na Huo, Yan Wang
Hao Cheng, Lin-Hui Hu, Gui-Qiang Wang, Na Huo, Yan Wang, Department of Infectious Disease, Peking University First Hospital, Beijing 100034, China
Co-first authors: Hao Cheng and Lin-Hui Hu.
Co-corresponding authors: Na Huo and Yan Wang.
Author contributions: Cheng H and Hu LH were responsible for conceptualization, visualization, writing – original draft, writing – review & editing and they contribute equally to this study as co-first authors; Wang GQ was responsible for visualization, writing – review & editing; Huo N and Wang Y were responsible for conceptualization, project administration, supervision, writing – review & editing and they contribute equally to this study as co-corresponding authors; and all authors have read and approved the final manuscript.
AI contribution statement: AI tools (specifically ChatGPT) were used solely for linguistic refinement and formatting assistance. 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: The patient provided informed written consent about personal and medical data collection.
Conflict-of-interest statement: All the authors have no conflict of interest related to the manuscript.
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: Yan Wang, Department of Infectious Disease, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing 100034, China. wangyanwang@bjmu.edu.cn
Received: May 25, 2026 Revised: July 7, 2026 Accepted: September 4, 2026 Published online: January 7, 2027 Processing time: 170 Days and 21.2 Hours
Abstract
BACKGROUND
Gilbert syndrome (GS) is a common hereditary condition characterized by unconjugated hyperbilirubinemia due to reduced uridine diphosphate-glucuronosyltransferase 1A1 (UGT1A1) activity. Although GS is traditionally considered benign, its association with biliary tract disease is increasingly recognized.
CASE SUMMARY
We report a case illustrating the diagnostic challenge of GS masquerading as refractory cholestatic liver disease. A 40-year-old man with an 18-year history of intermittent jaundice developed recurrent obstructive jaundice caused by common bile duct stones. Despite three endoscopic retrograde cholangiopancreatography procedures, hyperbilirubinemia persisted. Liver biopsy demonstrated cholestatic hepatitis, and whole-genome sequencing identified a homozygous UGT1A1 missense variant, confirming GS complicated by secondary choledocholithiasis. Following complete ductal clearance and longitudinal follow-up, bilirubin levels returned to baseline.
CONCLUSION
This case highlights the importance of recognizing GS in recurrent biliary obstruction to avoid unnecessary invasive procedures.
Core Tip: Gilbert syndrome (GS) is generally regarded as a benign hereditary disorder, but its role in pigment stone formation and recurrent biliary disease may be underestimated. This case demonstrates that GS can be masked by recurrent choledocholithiasis and prolonged obstructive jaundice, leading to diagnostic uncertainty and repeated interventions. Recognition of the interaction between impaired bilirubin metabolism and biliary obstruction is essential. Genetic confirmation of GS in selected patients with unexplained persistent hyperbilirubinemia may help guide individualized management and avoid unnecessary invasive procedures.
