Wilson's disease - Symptoms and causes (2024)

Overview

Wilson's disease is a rare inherited condition that causes copper levels to build up in several organs, especially the liver, brain and eyes. Most people with Wilson's disease are diagnosed between the ages of 5 and 35. But younger and older people can be affected too.

Copper plays a key role in building healthy nerves, bones, collagen and the skin pigment melanin. You usually take in copper from the food you eat. Your liver produces a substance called bile that removes any extra copper.

But in people with Wilson's disease, copper isn't removed properly and instead builds up. Sometimes it can be life-threatening if it's not treated. When diagnosed early, Wilson's disease is treatable, and many people with the condition live normal lives.

Symptoms

Wilson's disease is present at birth, but symptoms don't appear until copper levels build up in the brain, liver, eyes or another organ. Symptoms vary based on the parts of your body the disease affects.

These symptoms can include:

• Tiredness and loss of appetite.
• A yellowing of the skin and the whites of the eye, known as jaundice.
• Golden-brown or copper-colored rings around the irises of the eyes, known as Kayser-Fleischer rings.
• Fluid buildup in the legs or stomach area.
• Problems with speech, swallowing or physical coordination.
• Depression, mood changes and personality changes.
• Having a hard time falling asleep and staying asleep.
• Uncontrolled movements or muscle stiffness.

When to see a doctor

Make an appointment with your doctor or other primary care provider if you have symptoms that worry you, especially if a family member has Wilson's disease.

Causes

Wilson's disease is caused by a changed gene passed down from each parent. If you get only one affected gene, you won't get the disease yourself, but you'll be a carrier. This means you could pass the affected gene to your children.

Risk factors

You can be at greater risk of Wilson's disease if your parents or siblings have the condition. Ask your doctor whether you should have genetic testing to find out if you have Wilson's disease. Diagnosing the condition as early as possible greatly increases the chances of successful treatment.

Complications

If Wilson's disease isn't treated, sometimes it can lead to death. Serious complications include:

• Scarring of the liver, also known as cirrhosis. As liver cells try to repair damage due to high copper levels, scar tissue forms in the liver. This makes it harder for the liver to work.
• Liver failure. This can occur suddenly — what's known as acute liver failure or decompensated Wilson's disease. It also can come about slowly over years. A liver transplant might be a treatment option.
• Lasting nervous system issues. Tremors, involuntary muscle movements, clumsy walking and having a hard time speaking usually improve with treatment for Wilson's disease. But some people have lasting nervous system problems, even with treatment.
• Kidney problems. Wilson's disease can damage the kidneys, leading to issues such as kidney stones and an unusual number of amino acids removed in the urine.
• Mental health issues. These might include personality changes, depression, irritability, bipolar disorder or psychosis.
• Blood problems. These might include the destruction of red blood cells — what's known as hemolysis. This leads to anemia and jaundice.