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
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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:
- Fatigue, lack of appetite or abdominal pain
- A yellowing of the skin and the whites of the eye (jaundice)
- Golden-brown eye discoloration (Kayser-Fleischer rings)
- Fluid buildup in the legs or abdomen
- Problems with speech, swallowing or physical coordination
- Uncontrolled movements or muscle stiffness
When to see a doctor
Make an appointment with your doctor if you have signs and symptoms that worry you, especially if a family member has Wilson's disease.
Autosomal recessive inheritance pattern
To have an autosomal recessive disorder, you inherit two changed genes, sometimes called mutations. You get one from each parent. Their health is rarely affected because they have only one changed gene. Two carriers have a 25% chance of having an unaffected child with two unaffected genes (left). They have a 50% chance of having an unaffected child who also is a carrier (middle). They have a 25% chance of having an affected child with two changed 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.
Typical liver vs. liver cirrhosis
A typical liver (left) shows no signs of scarring. In cirrhosis (right), scar tissue replaces healthy liver tissue.
Untreated, Wilson's disease can be fatal. Serious complications include:
- Scarring of the liver (cirrhosis). As liver cells try to make repairs to damage done by excess copper, scar tissue forms in the liver, making it more difficult for the liver to function.
- Liver failure. This can occur suddenly (acute liver failure), or it can develop slowly over years. A liver transplant might be a treatment option.
- Persistent neurological problems. Tremors, involuntary muscle movements, clumsy gait and speech difficulties usually improve with treatment for Wilson's disease. However, some people have persistent neurological difficulty despite treatment.
- Kidney problems. Wilson's disease can damage the kidneys, leading to problems such as kidney stones and an abnormal number of amino acids excreted in the urine.
- Psychological problems. These might include personality changes, depression, irritability, bipolar disorder or psychosis.
- Blood problems. These might include destruction of red blood cells (hemolysis) leading to anemia and jaundice.
Oct. 25, 2022