29. Wilson Disease

  1. Eugene R. Schiff MD, MACP, FRCP3,
  2. Willis C. Maddrey MD, MACP, FRCP4 and
  3. Michael F. Sorrell MD, FACP5
  1. Michael L. Schilsky MD1 and
  2. Anthony S. Tavill MD, FACP, FRCP2

Published Online: 31 OCT 2011

DOI: 10.1002/9781119950509.ch29

Schiff's Diseases of the Liver, Eleventh Edition

Schiff's Diseases of the Liver, Eleventh Edition

How to Cite

Schilsky, M. L. and Tavill, A. S. (2011) Wilson Disease, in Schiff's Diseases of the Liver, Eleventh Edition (eds E. R. Schiff, W. C. Maddrey and M. F. Sorrell), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781119950509.ch29

Editor Information

  1. 3

    Center for Liver Diseases and Schiff Liver Institute, University of Miami Miller School of Medicine, Miami, FL, USA

  2. 4

    Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA

  3. 5

    University of Nebraska College of Medicine, Omaha, NE, USA

Author Information

  1. 1

    Yale New Haven Transplant Center, Yale University Medical Center, New Haven, CT, USA

  2. 2

    Case Western Reserve University, Consultant Hepatologist, Cleveland Clinic, Cleveland, OH, USA

Publication History

  1. Published Online: 31 OCT 2011
  2. Published Print: 9 DEC 2011

ISBN Information

Print ISBN: 9780470654682

Online ISBN: 9781119950509

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Keywords:

  • Wilson disease;
  • hepatolenticular degeneration;
  • Kayser–Fleischer ring;
  • ceruloplasmin;
  • copper;
  • ATP7B;
  • trientine;
  • penicillamine;
  • zinc;
  • liver transplant

Summary

Wilson disease is an autosomal, recessively inherited genetic disorder of copper metabolism due to a defect in a copper-transporting adenosine triphosphatase, ATP7B. Patients with Wilson disease have disease-specific mutations of both ATP7B alleles that cause a reduced hepatic biliary excretion of copper with subsequent toxic copper accumulation in the liver and brain in excess of normal metabolic needs. The disease does not develop in heterozygotes with a mutation of a single ATP7B allele, and they do not require treatment. The diagnosis of Wilson disease is established by a combination of clinical and biochemical findings or by molecular genetic analysis. Findings in patients include a decrease in levels of circulating ceruloplasmin, the presence of corneal Kayser–Fleischer rings, elevated urine copper excretion, and a hepatic copper concentration that is typically above 250 mg/g dry weight of liver. In most symptomatic patients, treatment with metal chelating agents is effective in stabilizing or reversing the disease. In asymptomatic patients treated with metal chelating agents or zinc salts, disease progression and symptom development is prevented. In all circumstances, lifelong pharmacologic treatment is required and results in excellent patient survival. Acute liver failure due to Wilson disease or severe hepatic insufficiency unresponsive to medical therapy is best treated with liver transplantation, which is curative.