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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.
Insights
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.
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.
Abstract:
Three guidelines in Wilson disease (WD) have been issued to date: by the American Association for the Study of Liver Diseases (AASLD) in 2003 with revision in 2008, by the European Association for the Study of the Liver (EASL) in 2012, and most recently by the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) in 2018. The following review aims to compare and contrast the approach to diagnosis and management of WD outlined in each guidance. Diagnostic criteria for WD are variable, with the AASLD proposing a clinical/biochemical algorithmic approach, while EASL and ESPGHAN favor use of the Leipzig score. Screening of first-degree relatives differs in modality: clinical and genetic testing in AASLD and ESPGHAN, versus genetic testing alone in EASL. There is general consensus regarding treatment of WD, though ESPGHAN favors zinc over chelators in maintenance phase and for asymptomatic patients. Liver transplantation is indicated in cases of acute liver failure (ALF) due to WD, but not primarily for neuropsychiatric disease in all guidelines. EASL and ESPGHAN advocate for use of the revised King's score to guide transplant listing. There are limited recommendations on special circumstances including pregnancy, surgery, and malignancy risk in WD. Though current recommendations address the management of liver disease due to WD, future guidelines may include a more detailed discussion of neurological and psychiatric manifestations of WD.
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