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Wilson's Disease: Signs, Diagnosis and Treatment

Wilson's Disease could be present at birth but not show signs until copper levels start to rise. Here are its symptoms, treatment, and prevention.

Snigdha Behera Written By: Snigdha Behera New Delhi Published on: May 25, 2023 16:27 IST
Wilson's disease: causes, symptoms, and treatment
Image Source : FREEPIK Wilson's disease: causes, symptoms, and treatment

Wilson’s disease is a rare genetic disorder that causes copper to accumulate in various organs, including the liver, brain, and eyes and the excess copper can cause significant damage to these organs, leading to a range of symptoms. Wilson’s disease is one of the main reasons for cirrhosis of the liver besides alcohol, hepatitis B, and hepatitis C virus, but mostly these diseases are silent and once symptoms come the disease is usually in an advanced state. This disease also known as hepatolenticular degeneration, can cause severe neurological and liver problems if left untreated.

What causes Wilson’s Disease?

In Wilson’s disease, a particular gene or chromosome 13 does not work. The gene is called ATP7B. This gene normally controls the way the liver cells get rid of excess copper. Normally, the liver cells pass out excess copper into the bile. If this process does not work, then the copper builds up in liver cells. When the copper storage capacity of the liver cells is exhausted, the copper spills into the bloodstream and deposits in other parts of the body, mainly the brain. 

India Tv - Also known as hepatolenticular degeneration, can cause severe neurological and liver problems

Image Source : FREEPIKAlso known as hepatolenticular degeneration, can cause severe neurological and liver problems

Symptoms of Wilson’s disease

Although the genetic defect is present at birth, it takes years for copper to build up to a level where it is damaging, Symptoms typically start to develop between the ages of 6 and 20, most commonly in the teenage years. Symptoms can include:

1. Fatigue, lack of appetite, or abdominal pain

2. A yellowing of the skin and the whites of the eye

3. Golden-brown eye discoloration 

4. Fluid build-up in the legs of the abdomen

5. Problems with speech, swallowing, or physical coordination

6. Uncontrolled movements or muscle stiffness

Can Wilson's disease be prevented?

There is no cure for Wilson's disease. However, with genetic counseling, you might be able to determine whether your current or future children are at risk of developing it. Your healthcare provider may recommend genetic testing. If there is a strong family or personal history of the condition. Siblings of someone with Wilson disease should be tested. Moreover, distant relatives who have neurological or liver symptoms that could be related to Wilson's disease.

How do you manage or live with Wilson's disease?

You need dietary changes to help reduce your copper intake which include:

1. Limiting or avoiding mushrooms

2. Limiting or avoiding nuts

3. Limiting or avoiding chocolate

4. Should test your drinking water for copper or find a source of water that is free of copper. It’s also important to return to your doctor for regular follow-up visits and lab tests to make sure your copper levels are under control.

5. Also talk with your doctor about other steps you can take to keep your liver healthy, such as getting vaccinated against hepatitis A and B.


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