Definition

Wilson disease causes a buildup of copper in the body. It is very rare.

Copper is a mineral we get from food. Our bodies need it in small amounts. Too much copper can be poisonous. We eat much more copper than we need. The copper needs to be passed out of our bodies. People with Wilson disease cannot pass the copper they do not need. The copper builds up in the body and damages organs like the liver, brain, kidneys, and eyes.

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Causes

Wilson disease is a genetic disorder. A faulty gene causes this system to malfunction. Both parents must have the faulty gene in order for the child to develop the disease. People with only one faulty gene may never have symptoms. However, they can pass the gene on to their children.

Risk Factors

The only known factor that increases your risk for Wilson disease is a family history of the disease. It tends to be most common in eastern Europeans, Sicilians, and southern Italians.

Symptoms

It may take some time for copper to build up. At first, the liver will hold the excess copper. Eventually, the liver will not be able to hold the copper. Copper will begin to leave the liver and move to other organs like the brain or eyes. Symptoms usually begin under 40 years of age, typically at ages 6-20 years. They can be present as early as 5 years of age.

• Symptoms of excess copper in the liver include:
  • Yellowing of the skin and eyes
  • Swollen abdomen
  • Pain in the abdomen
  • Nausea
  • Vomiting blood
  • Fluid buildup in the legs
  • Fatigue
• Symptoms of excess copper in the brain include:
  • Depression
  • Anxiety
  • Mood swings
  • Aggressive or other inappropriate behaviors
  • Difficulty speaking and swallowing
  • Tremors
  • Rigid muscles
  • Problems with balance and walking
• Symptoms of excess copper in the eyes include Kayser-Fleischer rings, which are rusty or brown-colored rings around the iris.
• Symptoms may also occur due to anemia, infections, poor blood clotting, kidney damage, or bone and joint disease from the extra copper

Diagnosis

Wilson disease is rare. It is fatal unless it is treated before serious illness develops. Symptoms may be attributed to other more common causes like hepatitis or cirrhosis. You may also appear healthy even while your liver is getting damaged. However, it is important to get diagnosed and treated early. This will help to avoid organ damage and early death.

You will be asked about your symptoms and medical history. A physical and mental exam will be done. Your eyes will be examined for brown, ring-shaped color in the cornea (Kayser-Fleischer rings).

Your bodily fluids and tissues may be tested for copper or evidence of elevated copper. This can be done with:

• Blood and urine tests
• Liver biopsy

Images may be taken of your brain. This can be done with an MRI scan.

Treatment

The goals of treatment are to:

• Remove the excess copper
• Prevent copper from building up again
• Improve all associated symptoms of copper overload

Treatment cannot cure the underlying problem of copper build up. You will need to continue treatment throughout your lifetime.

Prevention

There are no current guidelines to prevent Wilson disease.