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November 12, 2025Biomolecules and BiomedicineOpen Access

Rare liver diseases — Etiology, diagnosis and management: A review

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Authors

QLQi LongRTRawaz D TawfeeqYJYu Jiang

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Overview

This review highlights diagnostic and management advancements in rare liver diseases, indicating significant public health implications.

Key Points

  • To synthesize evidence on the etiology, classification, diagnostics, and management of rare liver diseases (RLDs).
  • Conducted a systematic search of PubMed and Scopus from 2015 to 2025 using predefined keywords.
  • Included peer-reviewed human studies focusing on mechanisms, diagnostic strategies, and treatments.
  • Extracted data on disease biology, diagnostic tools, outcomes, and molecular therapies.
  • Identified categories of RLDs including genetic/inherited, autoimmune cholestatic, and vascular/metabolic entities.
  • Highlighted the role of next-generation sequencing and machine learning in diagnostics and disease management.
  • Recommended specific management strategies including gene-directed therapies and precision medicine frameworks.

Cite This Study

Long et al. (2025) studied this question.

synapsesocial.com/papers/69252e83c0ce034ddc355afbhttps://doi.org/10.17305/bb.2025.13278
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