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.
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.
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.
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:
About Wilson disease. Wilson Disease Association website. Available at: ...(Click grey area to select URL) Accessed February 12, 2018.
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Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease.
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Ferenci P. Wilson disease.
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