What is Wilson’s Disease?

Copper is absorbed from our diet. Copper is important in our bodies for healthy nerves, bones, tissue, and skin. Excess copper is removed from the body in bile, a substance produced by the liver. In Wilson’s disease, too much copper builds up in the liver, brain, eyes, kidney, and other organs. As the result of a genetic problem, (both parents must pass the gene on to the affected child). It is rarely present before six years old but is usually seen before age 30.

What are the symptoms?

Symptoms depend on age and how much copper has built up.

With liver disease, symptoms can include:

  • Fatigue
  • Lack of appetite
  • Abdominal pain
  • Itching
  • Joint pain
  • Yellowing of the skin or eyes
  • Dark urine and pale stool
  • Skin rashes
  • Nausea
  • Vomiting

With copper build up in the brain, symptoms can include:

  • Tremor
  • Rigidity
  • Trouble walking
  • Slurring when talking
  • Smiling at inappropriate times
  • Drooling
  • Personality changes

How is Wilsons Disease diagnosed?

Different tests may be performed to diagnose this condition. Blood tests to evaluate liver function may be ordered. Levels of ceruloplasmin, the protein that carries copper in your bloodstream, will be measured. You may be asked to collect your urine for a day to see how much copper is present. To evaluate if copper is building up in other organs, imaging with a CT or MRI may be ordered. Your eyes may be examined by an ophthalmologist for a golden-brown discoloration. A liver biopsy may be obtained. Genetic testing for the presence of the mutated gene responsible for Wilson’s disease can be performed.

How is it treated?

Lifelong treatment is required. Measures are taken to prevent copper from building up in the body. Medications may be given to decrease the amount of copper that has already been deposited. To remove copper from your body, chelating agents can be given that cause your organs to release copper and then bind it in the bloodstream allowing it to be filtered by the kidneys and eliminated from the body in the urine. Specific medications include penicillamine and trientine can be used. Zinc may also be given as this helps to prevent the absorption of copper from food consumed.

If the disease is severe and there is significant liver damage, transplantation with a new liver may be necessary. Wilson’s disease is cured with a liver transplant and further treatment is not necessary.

What can I do?

If you have well water or copper pipes in your home, have your water tested for copper levels. Sometimes it is recommended to avoid or limit foods that have high copper levels such as:

  • Liver
  • Shellfish
  • Mushrooms
  • Nuts
  • Chocolate
  • Avocados
  • Bran products
  • Copper-containing vitamin and mineral supplements


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