Cong S, Wang YN, Wang JR, Duan RH. Association between hereditary spherocytosis and gallstone disease: Pathophysiology, diagnosis, and management. World J Gastrointest Surg 2025; 17(7): 105033 [DOI: 10.4240/wjgs.v17.i7.105033]
Corresponding Author of This Article
Jun-Rong Wang, Professor, Department of Gynaecology and Obstetrics, China-Japan Union Hospital of Jilin University, No. 126 Xiantai Street, Changchun 130022, Jilin Province, China. junrongwang_2019@yeah.net
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Minireviews
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
Shan Cong, Department of Nephrology, Second Hospital of Jilin University, Changchun 130022, Jilin Province, China
Yu-Ning Wang, Department of Breast Surgery, China-Japan Union Hospital of Jilin University, Changchun 130022, Jilin Province, China
Jun-Rong Wang, Department of Gynaecology and Obstetrics, China-Japan Union Hospital of Jilin University, Changchun 130022, Jilin Province, China
Rui-Heng Duan, Department of Hepatobiliary-Pancreatic Surgery, China-Japan Union Hospital of Jilin University, Changchun 130022, Jilin Province, China
Co-corresponding authors: Jun-Rong Wang and Rui-Heng Duan.
Author contributions: Wang JR and Duan RH contributed equally to this manuscript as co-first authors of this article. Duan RH contributed to the writing and editing of the manuscript; Cong S and Wang YN contributed to the discussion of the manuscript and designed the manuscript; Wang JR designed the overall concept and outline of the manuscript; Cong S, Wang YN, and Duan RH participated in the literature search. All authors have read and approve the final manuscript.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Jun-Rong Wang, Professor, Department of Gynaecology and Obstetrics, China-Japan Union Hospital of Jilin University, No. 126 Xiantai Street, Changchun 130022, Jilin Province, China. junrongwang_2019@yeah.net
Received: January 10, 2025 Revised: March 18, 2025 Accepted: May 21, 2025 Published online: July 27, 2025 Processing time: 195 Days and 9.2 Hours
Abstract
Hereditary spherocytosis (HS), a common inherited hemolytic anemia, is characterized by red blood cell membrane protein defects leading to chronic hemolysis. This condition significantly predisposes patients to gallstone disease, including both gallbladder and bile duct stones, due to excessive bilirubin production from hemolysis. Gallstones in HS patients, primarily composed of bilirubin, can lead to complications such as cholecystitis, cholangitis, and obstructive jaundice. This review provides a comprehensive landscape of the pathophysiological mechanisms linking HS to gallstone formation, emphasizing the roles of hemolysis, bile composition, and genetic factors. It also discusses the clinical manifestations of gallstone disease in HS, including recurrent jaundice and biliary obstruction, and highlights the diagnostic value of imaging modalities such as ultrasonography and magnetic resonance cholangiopancreatography. Furthermore, current management strategies, including splenectomy, cholecystectomy, and endoscopic approaches for bile duct stones, are examined in the context of HS. By synthesizing existing knowledge, this review aims to provide insights into improving the diagnosis, prevention, and treatment of gallstone disease in patients with HS, while identifying gaps for future research.
Core Tip: Hereditary spherocytosis predisposes patients to gallstone disease due to chronic hemolysis and elevated bilirubin levels. This review explores the pathophysiological mechanisms, clinical manifestations, and diagnostic strategies for hereditary spherocytosis-related gallstones. Key insights include the importance of ultrasonography and magnetic resonance cholangiopancreatography for early detection, tailored management strategies such as splenectomy and cholecystectomy, and emerging preventive approaches, including lifestyle modifications, pharmacological therapies, and novel treatments like nanoprodrugs and probiotics. Addressing research gaps in genetic predisposition, microbial influences, and biomarkers will further enhance prevention and treatment, particularly in pediatric populations, emphasizing a multidisciplinary approach for optimized outcomes.
