Clinical characteristics, diagnosis and treatment progress of rare liver diseases in China_West China Medical Journal

Authors：

Lü Linling ,  XIE Yan

Department of Gastroenterology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China;

Corresponding?author：

XIE Yan, Email: xieyan@wchscu.cn

Keywords：

Rare liver diseases; hereditary metabolic liver diseases; cholestatic liver diseases; autoimmune liver diseases; molecular diagnosis; gene therapy

DOI：

10.7507/1002-0179.202512075

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Rare liver diseases are a group of disorders primarily affecting the liver, characterized by complex etiology and diverse clinical manifestations. In China, rare liver diseases include hereditary metabolic liver diseases, cholestatic liver diseases, autoimmune liver diseases, and other rare types of liver damage. Due to low incidence, insufficient awareness, and lack of specific biomarkers, diagnosing and managing these diseases is challenging, often resulting in diagnostic delays, limited treatment options, and difficulties in long-term management. This review aims to summarize the clinical features and the current status of diagnosis and treatment of rare liver diseases in China. It also integrates the latest diagnostic and therapeutic technologies, provides guidance for clinicians, and offers references for future research and policy formulation. Ultimately, this work seeks to promote the development of the diagnosis and treatment system for rare liver diseases in China.

Citation： Lü Linling, XIE Yan. Clinical characteristics, diagnosis and treatment progress of rare liver diseases in China. West China Medical Journal, 2026, 41(1): 118-129. doi: 10.7507/1002-0179.202512075 Copy

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West China Medical Journal

Clinical characteristics, diagnosis and treatment progress of rare liver diseases in China

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