Wilson's Disease

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Wilson's Disease, also known as hepatolenticular degeneration, is a genetic disease involving the inability of the body to remove excess copper. Small amounts of copper are essential for normal living functions, but it high concentration is can be poisonous and, as a result, Wilson's disease is potentially fatal.

Under normal physiological conditions, the liver filters excess copper and releases it into the bile fluid to be excreted from the body. People with Wilson's disease are not able to filter the copper sufficiently in the liver and copper levels build up in organs such as the liver, brain and eyes.


Wilson's disease is caused by a mutation in the ATP7B gene, which is inherited from parents in an autosomal recessive pattern. This means that both parents must be carriers of the defected gene for a child to be affected, and males and females are equally susceptible to the disease.


Although Wilson's disease is a genetic disease that is present at birth, signs and symptoms often don’t appear for some time, until the level of copper builds up in essential organs of the body.

Signs and symptoms of the disease may include:

  • Abdominal pain and bloating
  • Anxiety and depression
  • Edema or fluid build up in legs and feet
  • Fatigue
  • Jaundice
  • Kayser-Fleischer rings
  • Loss of appetite
  • Muscle stiffness
  • Nausea and vomiting
  • Tremor
  • Weight loss


If Wilson's disease is not diagnosed and treated when symptoms emerge, serious complications may arise. This could include:

  • Cirrhosis
  • Nephritis and Kidney damage
  • Persistent symptoms of the nervous system
  • Cancer of the liver
  • Liver failure


If a physician suspects Wilson's disease based on the presenting signs and symptoms of a patient, a full medical and family history should be taken.

A physical examination can be undertaken immediately; specifically looking for the presence of Kayser-Fleischer rings in the eyes and listening to the abdomen with a stethoscope.

Blood and urine samples should also be taken for testing by a medical laboratory. These tests can help to detect abnormality of the liver and kidneys, as well as check the copper level in the blood and urine.

A liver biopsy can help to confirm the diagnosis by showing signs of cirrhosis and copper in the liver. This involves taking a tissue sample from the liver, which is examined by a pathologist in a laboratory.


Management of Wilson's disease involves an integrated approach of medications and nutritional changes, in addition to a possible liver transplant for some patients.

Chelating agents are commonly prescribed to remove excess copper from organs to be excreted from the bloodstream via the kidneys. Trientine and d-penicillamine are drugs in this class that help to reduce copper level in organs. They are usually a short-term treatment option to remove copper, which is followed by treatment with less invasive medications such as zinc.

Zinc is often recommended for patients that are not symptomatic to inhibit the absorption of copper from dietary sources. It is associated with less severe side effects and, as a result, can be offer a maintenance solution for Wilson's disease and is also safe for pregnant women.

Nutrition advice should be provided to encourage people with Wilson's disease to restrict their intake of copper by avoiding foods such as:

  • Shellfish
  • Liver
  • Mushrooms
  • Nuts
  • Chocolate

Additionally, some tap water contains significant amounts of copper and if this is suspected, appropriate water testing is recommended.

When the management of Wilson's disease is not effective and severe cirrhosis is likely to lead to liver failure, it may be necessary to have a liver transplant. This procedure has a relatively high success rate with 85% of transplanted liver function a year later.


Further Reading

Last Updated: Jul 16, 2023

Yolanda Smith

Written by

Yolanda Smith

Yolanda graduated with a Bachelor of Pharmacy at the University of South Australia and has experience working in both Australia and Italy. She is passionate about how medicine, diet and lifestyle affect our health and enjoys helping people understand this. In her spare time she loves to explore the world and learn about new cultures and languages.


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  1. buyan jargal buyan jargal Mongolia says:

    We appreciate your response.

    My son is 24 years old. We cannot find any drugs, treatments as well as hospitals to fight against Wilson's disease in Mongolia. Currently there is only person with Wilson's disease in Mongolia who is my son. We cannot find anything good to help my son at the moment. Therefore, we need somewhere where my son can get help. We are also lack of financial condition to support full treatment for my son. However, we wish to have good medication with less expense if possible. We want to get diagnosed my son's other infected organs and want to know how we can help to get them recovered well.


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