Stephen J. Schueler, M.D.

Overview Incidence Symptoms Evaluation Treatment Underlying Cause Genetics

Hepatolenticular Degeneration Overview

Another name for Hepatolenticular Degeneration is Wilson's Disease.

What is Wilson's disease?
A person with Wilson's disease has a genetic disorder that causes too much copper to accumulate in the body. Normally, the liver removes excess copper from the body, and secretes it in bile. In a person with Wilson's disease, an abnormal gene does not allow the body to produce the protein that is responsible for transporting copper into the bile. Copper builds up in the liver, and then the copper starts to accumulate in the brain, eyes, kidneys, and joints. Wilson's disease is a rare, inherited illness that affects about 1 out of 30,000 people in the US.

What are the symptoms of Wilson's disease?
The most characteristic symptom of Wilson's disease is the Kayser-Fleischer ring: a rusty, greenish-brown ring around the cornea of the eye. Worsening Wilson's disease may cause symptoms of hepatitis. Without treatment, Wilson's disease results in symptoms of cirrhosis.

How does the doctor treat Wilson's disease?
Treatment for Wilson's disease includes avoiding copper in the diet. Additional treatment includes medications that bind copper in the intestines or bloodstream.

Continue to Hepatolenticular Degeneration Incidence

Last Updated: Nov 24, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Hepatolenticular Degeneration References
  1. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson's disease. Lancet. 2007 Feb 3;369(9559):397-408. [17276780]
  2. Durand F. Wilson's disease: an old disease keeps its old secrets. Eur J Gastroenterol Hepatol. 2007 Feb;19(2):97-9. [17272992]
  3. Pfeiffer RF. Wilson's Disease. Semin Neurol. 2007 Apr;27(2):123-32. [17390257]
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