Wilson’s disease
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The liver is your largest internal organ. About the size of a football, it’s located mainly in the upper right portion of your abdomen, beneath the diaphragm and above your stomach.
Wilson’s disease is a rare inherited disorder that causes copper to accumulate in your liver, brain and other vital organs. Most people with Wilson’s disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well.
Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and excess is excreted through a substance produced in your liver (bile).
But in people with Wilson’s disease, copper isn’t eliminated properly and instead accumulates, possibly to a life-threatening level. When diagnosed early, Wilson’s disease is treatable, and many people with the disorder live normal lives.
Wilson’s disease care at Mayo Clinic
Wilson’s disease is present at birth, but signs and symptoms don’t appear until the copper builds up in the brain, liver or other organ. Signs and symptoms vary depending on the parts of your body affected by the disease. They can include:
Make an appointment with your doctor if you have signs and symptoms that worry you, especially if a family member has Wilson’s disease.
To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one mutated gene (recessive gene) and one normal gene (dominant gene) for the condition. With each pregnancy, two carriers have a 25 percent chance of having an unaffected child with two normal genes (left), a 50 percent chance of having an unaffected child who is also a carrier (middle), and a 25 percent chance of having an affected child with two recessive genes (right).
Wilson’s disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit one copy of the defective gene from each parent. If you receive only one abnormal gene, you won’t become ill yourself, but you’re a carrier and can pass the gene to your children.
You can be at increased risk of Wilson’s disease if your parents or siblings have the condition. Ask your doctor whether you should undergo genetic testing to find out if you have Wilson’s disease. Diagnosing the condition as early as possible dramatically increases the chances of successful treatment.
A normal liver (left) shows no signs of scarring. In cirrhosis (right), scar tissue replaces normal liver tissue.
Untreated, Wilson’s disease can be fatal. Serious complications include:
Wilson’s disease care at Mayo Clinic
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Wilson’s disease
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