What is 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.
Wilson’s disease symptoms
The symptoms of Wilson’s disease vary based on the organ system affected by the condition. Some of the primary parts of the body impacted include the liver, central nervous system, brain, and eyes.
Different Wilson’s disease symptoms will require different management. You can work with your care provider to form a treatment plan based on which parts of your body are most impacted.
- Fatigue or tired feeling
- Loss of appetite
- Sharp pain in the liver and upper abdomen
- Dark urine and light stool
- Jaundice (yellowing of the skin and white part of the eyes)
- Irritated and itchy skin
- Edema (swelling of the legs and feet)
- Sudden changes in weight
- Bloated feeling from abdominal fluid
In certain cases, liver symptoms associated with Wilson’s disease are only triggered by cirrhosis, a liver disease that occurs when scar tissue replaces healthy tissue in the liver.
- Stiffness and pain in the muscles and joints
- Uncontrollable tremors and shaking
- Anxiety and depression
- Sudden changes in mood and disposition
- Impaired coordination and cognition
- Poor muscle control (ataxia)
- Slurred or incoherent speech
While these symptoms can affect patients of all ages, they’re more common in older adults. Your care provider can help you navigate the age-related challenges of Wilson’s disease to minimize symptoms and impact.
Wilson’s disease often causes heavy deposits of copper in the cornea. This often leads to the formation of a brownish-green ring around the iris called a Kayser-Fleischer ring. Irregular movement or impaired eye movement may also occur.
Health complications from Wilson’s disease
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.
Causes of Wilson’s disease
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.
How common is 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.
Wilson’s disease tests and diagnosis
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.
Wilson’s disease treatment and management
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.