Wilson’s disease

Wilson’s disease, also known by its clinical name as hepatolenticular degeneration, is a buildup of excess copper in the eyes, liver, brain, and other vital organs. It occurs when copper can’t be absorbed properly through food and filtered through the liver.

While the body needs a certain amount of copper to produce red blood cells, maintain a healthy immune system, form collagen, and perform other essential tasks, too high copper levels can lead to life-threatening organ damage and other medical complications.

While Wilson’s disease can be challenging, early detection and treatment can help ensure a rich and full life. By working closely with your doctor on ways to proactively treat and manage your Wilson’s disease diagnosis, you can protect your liver and other organs and improve your overall health.

If left untreated, Wilson’s disease can lead to multiple long-term health issues, such as:

• Organ failure
• Hepatitis
• Cirrhosis
• Infection
• Worsening mental health issues
• Central nervous system dysfunction

The risk of these complications can be greatly reduced with early intervention and collaboration with your doctor and health care team.

Wilson’s disease is a rare genetic disorder that affects people of all ages but is typically diagnosed between the ages of five and 35.

It’s passed down through a mutation of the ATP7B gene that impairs the liver’s natural ability to process copper along with other waste through bile. The ATP7B mutation is autosomal recessive, which means that one gene with the mutation must be passed down from each parent in order to have Wilson’s disease.

While current research estimates that the condition impacts approximately 1 in 30,000 people, newer data indicates that about 1 in 7,000 have the gene mutation that can account for it. It’s difficult to know exactly how common Wilson’s disease is because it can be underdiagnosed. Many who have the gene mutation never actually end up exhibiting Wilson’s disease symptoms. 

People with a family history of Wilson’s disease should be tested early for the condition. Tests often include: 

• Comprehensive medical and family history  
• Physical exam to check for skin and eye discoloration, abdominal and leg swelling, liver and spleen enlargement, and other symptoms 
• Silt-lamp eye exam to look for Kayser-Fleischer rings 
• Blood and urine tests to assess copper levels  
• Liver biopsy to look for high copper levels and other signs of the condition  

Magnetic resonance imaging (MRI) and computed tomography (CT) tests can also be used to assess the condition of organs and soft tissue.  

While there is no cure for Wilson’s disease, the condition can be effectively managed to reduce the risk of complications, improve overall health, and optimize quality of life. Penn Medicine experts may suggest a variety of interventions to help control symptoms and prevent copper buildup. These may include medications to remove excess copper from the body, supplements to block copper absorption, and tailored dietary guidance. Pain management and behavioral therapy may also be part of treatment.