Update on the Diagnosis and Management of Wilson Disease

  • Eve A. RobertsEmail author
Liver (S Cotler and E Kallwitz, Section Editors)
Part of the following topical collections:
  1. Topical Collection on Liver


Purpose of Review

Exciting developments relating to Wilson disease (WD) have taken place with respect to both basic biological and clinical research. This review critically examines some of these findings and considers their implications for current thinking about WD. It is not a comprehensive review of WD as a clinical disorder.

Recent Findings

The structure of the gene product of ATP7B, abnormal in WD, is being worked out in detail, along with a broader description of how the protein ATP7B (Wilson ATPase) functions in cells including enterocytes, not only in relation to copper disposition but also to lipid synthesis. Recent population studies raise the possibility that WD displays incomplete penetrance. Innovative screening techniques may increase ascertainment. New strategies for diagnosing and treating WD are being developed. Several disorders have been identified which might qualify as WD-mimics.


WD can be difficult to diagnose and treat. Insights from its pathobiology are providing new options for managing WD.


Hepatolenticular degeneration Wilson disease ATP7B Wilson ATPase Copper Hepatic Neurological Psychiatric d-penicillamine Trientine Zinc salts Bis-choline tetrathiomolybdate Methanobactin Drug-pricing 


Compliance with Ethical Standards

Conflict of Interest

Eve Roberts declares no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major Importance

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Authors and Affiliations

  1. 1.Paediatrics, Medicine, and Pharmacology & ToxicologyUniversity of TorontoTorontoCanada
  2. 2.History of Science and Technology ProgrammeUniversity of King’s CollegeHalifaxUSA
  3. 3.Division of Gastroenterology, Hepatology, and NutritionThe Hospital for Sick ChildrenTorontoCanada

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