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Wilson's disease

Wilson's disease is a rare inherited disorder that causes too much copper to accumulate in your liver, brain and other vital organs. Symptoms typically begin between the ages of 12 and 23.

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 any excess is excreted through bile — a substance produced in your liver.

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.

Symptoms Causes Risk factors Complications

Wilson's disease causes a wide variety of signs and symptoms that are often mistaken for other diseases and conditions. Signs and symptoms vary depending on what parts of your body are affected by Wilson's disease. They may include:

  • Fatigue, lack of appetite or abdominal pain
  • Jaundice, a yellowing of the skin and the whites of the eye
  • A tendency to bruise easily
  • 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 any signs and symptoms that worry you. If a family member has been diagnosed with Wilson's disease, your doctor may recommend tests to determine whether you may have Wilson's disease.

Wilson's disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit two copies of the defective gene, one from each parent. If you receive only one abnormal gene, you won't become ill yourself, but you're considered a carrier and can pass the gene to your children.

You may be at increased risk of Wilson's disease if your parents or siblings have been diagnosed with 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.

Wilson's disease can cause serious complications such as:

  • Scarring of the liver (cirrhosis). As liver cells try to make repairs to damage done by excess copper, scar tissue forms in the liver. The scar tissue makes it more difficult for the liver to function.
  • Liver failure. Liver failure can occur suddenly (acute liver failure), or it can develop slowly over many years. If liver failure progresses, a liver transplant may be a treatment option.
  • Persistent neurological problems. Neurological problems usually improve with treatment for Wilson's disease. However, some people may experience persistent neurological difficulty despite treatment.
  • Kidney problems. Wilson's disease can damage the kidneys, leading to kidney problems such as kidney stones and an abnormal number of amino acids excreted in the urine.
  • Psychological problems. These problems may include personality changes, depression, bipolar disorder or psychosis.
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