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.
