Wilson Disease

Definition

Wilson disease is a rare buildup of copper in the body. Copper is a mineral we get from food. Our bodies need it in small amounts. People with Wilson disease cannot pass excess copper out of the body. Copper can build up in the liver, brain, and other vital organs.

Early treatment can help prevent serious illness and death.

Blood Supply and Liver.

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Causes

Wilson disease is caused by a faulty gene. Both parents must have the faulty gene for the child to get the disease.

Risk Factors

A family history of the disease raises a person's risk of getting it. It is more common in people in parts of Europe, Japan, and Costa Rica.

Symptoms

It may take some time for copper to build up. At first, the liver will hold the excess copper. Then it will leave the liver and move to other organs like the brain or eyes.

• Problems from excess copper in the liver are:
  • Yellowing of the skin and eyes
  • Swollen belly
  • Belly pain
  • Nausea
  • Vomiting blood
  • Fluid buildup in the legs
  • Tiredness
• Problems from excess copper in the brain are:
  • Depression
  • Anxiety
  • Mood swings
  • Behavior changes
  • Problems speaking and swallowing
  • Shaking
  • Stiff muscles
  • Problems with balance and walking
• Problems from excess copper in the eyes are red/brown rings around the colored part of the eye

Diagnosis

The doctor will ask about symptoms and past health. A physical exam will be done. A test will be done to look for key signs in the eyes. This can confirm the diagnosis.

Blood tests may also be done to look for signs of the disease. This can also confirm the diagnosis.

Treatment

There is no cure. It needs to be treated throughout a person's life. The goals are to:

• Remove the extra copper
• Prevent copper from building up again
• Ease symptoms

Treatment may include:

• Diet changes to lower copper levels, such as
  • Avoiding foods that are high in copper, such as liver, shellfish, nuts, chocolate, and mushrooms
  • Checking drinking water for copper levels
  • Avoiding multivitamins that include copper
• Medicines may be given by mouth or injection to:
  • Bind to the copper—to release it from the body
  • Block the digestive tract from absorbing copper
  • Treat brain and nerve problems, if they develop

Other therapies to help brain and nerve problems may include:

• Physical and speech therapy
• A temporary feeding tube—for severe swallowing problems

People with severe liver damage may need a transplant. It may also be needed in those who are not helped by other methods.

Prevention

There are no current guidelines to prevent Wilson disease.