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Clinical practice guidelines in Wilson disease.

Chiara Saroli Palumbo1, Michael L Schilsky1

  • 1Department of Medicine and Surgery, Division of Digestive Diseases, Section of Transplantation and Immunology, Yale University Medical Center, New Haven, CT, USA.

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|June 11, 2019
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Summary

This review compares Wilson disease (WD) guidelines from AASLD, EASL, and ESPGHAN, highlighting variations in diagnostic criteria, screening, and treatment, particularly for asymptomatic patients and liver transplantation. Future guidelines may better address neurological and psychiatric aspects of WD.

Keywords:
Wilson disease (WD)guidelineliver

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Area of Science:

  • Hepatology
  • Genetics
  • Clinical Medicine

Background:

  • Three major guidelines for Wilson disease (WD) management exist: AASLD (2003/2008), EASL (2012), and ESPGHAN (2018).
  • These guidelines offer differing approaches to WD diagnosis and treatment.

Purpose of the Study:

  • To compare and contrast the diagnostic and management strategies for Wilson disease (WD) across the three major guidelines.
  • To identify areas of consensus and divergence in current WD care recommendations.

Main Methods:

  • Comparative analysis of diagnostic criteria, including algorithmic vs. scoring systems (Leipzig score).
  • Review of recommended screening protocols for first-degree relatives.
  • Examination of treatment recommendations, including maintenance therapy and indications for liver transplantation (revised King's score).

Main Results:

  • Diagnostic criteria vary: AASLD uses a clinical/biochemical algorithm, while EASL and ESPGHAN utilize the Leipzig score.
  • Screening methods differ, with AASLD and ESPGHAN including clinical and genetic testing, whereas EASL focuses on genetic testing alone.
  • ESPGHAN suggests zinc over chelators for maintenance and asymptomatic cases; all guidelines reserve liver transplantation primarily for acute liver failure, not neuropsychiatric WD.

Conclusions:

  • Current Wilson disease guidelines show consensus on core treatments but differ in diagnostic specifics and screening modalities.
  • ESPGHAN's preference for zinc in certain scenarios and the use of the revised King's score for transplant listing are notable distinctions.
  • Further guideline development may benefit from incorporating more detailed recommendations for neurological, psychiatric, and special circumstances in WD management.