Wilson Disease

What is Wilson Disease

Wilson disease is a genetic disorder that is present at birth (congenital). The condition makes your body unable to get rid of excess copper. You get copper from the food you eat. Your body needs some copper, but too much can be poisonous. Your liver normally removes excess copper from your blood.

If you have Wilson disease, copper collects in your liver, brain, and other organs. It takes years for enough copper to build up and cause symptoms. Most people develop symptoms between the ages of 5 and 25.

What are the causes?

Wilson disease is caused by an abnormality (mutation) in a gene. To have Wilson disease, you must inherit the mutation from both parents. If you only get one copy, you are a carrier of the mutation. A carrier can pass the gene mutation to a child, even though the carrier does not have the disease.

What increases the risk?

You are at higher risk for the condition if you have a family history of Wilson disease.

What are the signs or symptoms?

Symptoms often start with liver disease because copper builds up in the liver first. Symptoms of liver damage include:

  • Loss of appetite.
  • Nausea.
  • Fatigue.
  • Weight loss.
  • Fluid buildup in the legs or belly.
  • Itchiness.
  • Yellowing of the eyes and skin (jaundice).

Over time, copper buildup in your body may affect your brain and other organs. Signs and symptoms of brain involvement include:

  • Tremors.
  • Muscle stiffness.
  • Clumsiness.
  • Personality changes.
  • Difficulty speaking and swallowing.
  • Headaches.
  • Depression.

Copper may build up in the colored part of your eye (iris). This can cause a rusty-colored ring around the outside of your iris (Kayser-Fleischer ring).

How is this diagnosed?

Wilson disease may be diagnosed by:

  • Medical history and physical exam. Your health care provider will check for Kayser-Fleischer rings during the physical exam.
  • Blood tests to check for:
    • An abnormal blood level of copper.
    • The protein that carries copper in the blood (ceruloplasmin).
    • Genetic mutations.
  • Urine tests to check for excess copper.
  • Having a needle inserted into your liver to remove a small piece of liver tissue (biopsy) to examine under a microscope. This may show copper buildup or scarring of the liver.

How is this treated?

Wilson disease is a lifelong (chronic) condition. It is best to start treatment early before copper buildup damages any part of your body. Treatment may include:

  • Medicines (chelating agents) to treat symptoms. These medications bind to copper so that it can be removed by your kidneys.
  • Zinc supplements to prevent symptoms. Zinc blocks copper from being absorbed from foods.
  • A liver transplant if there is significant liver damage before treatment is started.

Follow these instructions at home:

  • Follow all your health care provider’s instructions.
  • Take medicines only as directed by your health care provider.
  • Do notstop taking your medicine without approval from your health care provider, even if you have no symptoms. This can lead to dangerous complications.
  • Do noteat foods high in copper. These include:
    • Chocolate.
    • Shellfish.
    • Nuts.
    • Organ meats, such as cow liver.
    • Mushrooms.
  • Talk to your health care provider before taking any over-the-counter medication, vitamins, or diet supplements. Many of these contain copper.
  • Have your water supply checked for copper. There may be copper in your drinking water if you have copper plumbing or well water. If you have copper in your water, use bottled water.
  • Do notuse copper cookware or copper food containers.
  • Keep all follow-up visits as directed by your health care provider. This is important.

Contact a health care provider if:

  • Your symptoms change or become worse.
  • You have side effects from your medicines.
  • You have symptoms of worsening liver disease such as:
    • Jaundice.
    • Itchiness.
    • Confusion.
    • Sleepiness.
    • Nausea.
    • Vomiting.
    • Belly pain.
    • Swelling.

Get help right away if:

  • You become very confused or sleepy.
  • You vomit blood.
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