Wilson's Disease (Hepatolenticular Degeneration)

Overview

Wilson's disease is a rare disorder that is passed down in families (inherited). In people with this disease, excess levels of copper build up in the liver, brain and other organs. In most cases, Wilson disease is diagnosed between the ages of 5 and 35, but symptoms can occur at any age.

As long as Wilson's disease – or hepatolenticular degeneration – is diagnosed and treated early, most people with the condition lead fairly normal, healthy lives.

Wilson's disease causes

A gene that is passed down in families causes Wilson's disease. If one of your parents is a carrier of the gene, you will also be a carrier but won’t actually have the condition. If both of your parents are carriers, you will develop Wilson’s disease. If you have the gene, you can pass it on to your children.

Wilson's disease risk factors

If you have a parent or sibling with Wilson's disease, you are at an increased risk for developing the condition. If you have a family history of the condition, you may want to undergo genetic testing to determine if you are a carrier of the gene.

Wilson's disease symptoms

Wilson's disease is congenital (present at birth), though signs and symptoms do not start until the excess copper builds up in the organs. The symptoms you experience vary based on which areas of the body have been affected.

Signs and symptoms of Wilson's disease can include:

• Abdominal pain
• Decreased appetite
• Fatigue
• Fluid buildup in the legs or abdomen
• Golden-brown discoloration of the eyes – known as Kayser-Fleischer rings
• Jaundice (yellowing of the skin and eyes)
• Stiffness in the muscles
• Trouble controlling movements
• Trouble with speech, swallowing or coordination

Wilson disease diagnosis

Your specialist may order one or more of the following tests to diagnose Wilson's disease:

• Blood and urine tests - these tests can check how well your liver is functioning, levels of ceruloplasmin (a protein that binds copper in the blood) and copper levels in your blood.
• Eye exam - during this test, your specialist uses a high-powered light to check your eyes for Kayser-Fleischer rings. High levels of copper in your eyes cause these golden brown rings. Your specialist may also check for a specific type of cataract – called a sunflower cataract – that is indicative of Wilson's disease.
• Genetic testing - you may also undergo genetic testing during the diagnostic process. Genetic testing can determine if you are a carrier of the gene that causes Wilson's disease. If you are a carrier of the gene, your specialist may recommend that your siblings, parents and children also undergo genetic testing, so they know if they are at an increased risk of developing Wilson's disease.
• Liver biopsy - during this test, your specialist removes a small tissue sample (biopsy) from the liver for close analysis in the lab. Lab tests can determine if there are high levels of copper present in your liver.

Wilson's disease treatment

Your specialist may recommend one or more of the following treatment options for Wilson's disease:

• Lifestyle modifications - your specialist will recommend you avoid foods high in copper, such as liver, mushrooms, shellfish, chocolate and nuts. You may also need to have your home water tested for copper levels.
• Liver transplant - if Wilson's disease has caused severe liver damage, your specialist may recommend that you undergo a liver transplant. During this procedure, the surgeon removes your liver and replaces it with a donor liver. The donor liver may come from a deceased organ donor, or you may receive a partial liver from a family member.
• Medications - your specialist may prescribe medications – such as penicillamine or trientine – that work to bind copper into your bloodstream so you can excrete excess copper in your urine. You may also need to take zinc acetate, which can prevent your body from absorbing copper in the foods you eat. You will likely need to take these medications for the rest of your life. 

When should I seek care?

If you experience any of these symptoms, start by voicing your concerns and symptoms to your primary care provider. From there, your doctor may suggest seeing a liver specialist for more specialized treatment.