23. Wilson Disease: When Should you Think of Wilson Disease?

  1. E. Jenny Heathcote MB, BS, MD, FRCP, FRCP(C)5,6,7,8
  1. Eve A. Roberts MD, MA, FRCPC1,2 and
  2. Gideon M. Hirschfield MB, BChir, MRCP, PhD3,4,6

Published Online: 4 SEP 2012

DOI: 10.1002/9781118314968.ch23

Hepatology: Diagnosis and Clinical Management

Hepatology: Diagnosis and Clinical Management

How to Cite

Roberts, E. A. and Hirschfield, G. M. (2012) Wilson Disease: When Should you Think of Wilson Disease?, in Hepatology: Diagnosis and Clinical Management (ed E. J. Heathcote), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781118314968.ch23

Editor Information

  1. 5

    Francis Family Chair in Hepatology Research, Toronto, Ontario, Canada

  2. 6

    University of Toronto, Toronto, Ontario, Canada

  3. 7

    Patient Based Clinical Research Division, Toronto Western Research Institute, Toronto, Ontario, Canada

  4. 8

    University Health Network/Toronto Western Hospital, Toronto, Ontario, Canada

Author Information

  1. 1

    Departments of Paediatrics, Medicine, and Pharmacology, University of Toronto, Toronto, Ontario, Canada

  2. 2

    Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, Ontario, Canada

  3. 3

    Liver Centre, Division of Gastroenterology, Toronto Western Hospital, University Health Network, Toronto, Ontario, Canada

  4. 4

    Centre for Liver Research, University of Birmingham, Birmingham, UK

  5. 6

    University of Toronto, Toronto, Ontario, Canada

Publication History

  1. Published Online: 4 SEP 2012
  2. Published Print: 12 OCT 2012

ISBN Information

Print ISBN: 9780470656174

Online ISBN: 9781118314968

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Keywords:

  • copper;
  • hepatolenticular degeneration;
  • movement disorder;
  • Wilson ATPase;
  • ATP7B

Summary

Wilson disease (WD) is a rare autosomal recessive disorder of hepatic copper disposition, which can present as hepatic disease, neurological movement disorders, or psychiatric disease. Though often considered a disease of young adults, WD can present clinically at any age. Diagnosis requires a combination of clinical tests. In a patient with compatible liver disease and/or typical neurologic features, the combination of subnormal serum ceruloplasmin (preferably <140 mg/dL) and elevated basal 24-h urinary copper excretion (>0.6 µmol /24 h or >40 µg /24 h) is highly suggestive of WD. Kayser–Fleischer rings, due to accumulation of copper in the cornea, should be sought by slit-lamp examination, but they may not bepresent in approximately half of all patients. Genetic diagnosis is definitive but not straightforward. WD is eminently treatable. Treatment is life-long. Early diagnosis and treatment provide the best outlook for near-normal life. Discontinuing treatment leads to severe refractory liver dysfunction. First-degree relatives must be investigated for WD once a single family member has been diagnosed with WD. For family screening, genetic testing is most efficient but clinical testing may be more convenient.