wilson disease

A genetic disorder causing excess copper accumulation in the body, primarily affecting the liver, brain, and other vital organs.

your quick guide to this page

what is Wilson disease?: Learn what defines Wilson disease and what its general consequences are.
fast facts: Get a quick overview of Wilson disease through statistics and bite-sized facts.
symptoms: Learn about the symptoms of Wilson disease, how to recognize them, and what to do if you experience them.
lifestyle impacts: Find out how Wilson disease impacts your lifestyle.
what can I do?: Discover management and treatment strategies for Wilson disease.
additional resources: Find useful links, education, articles, recipes and more that can help with Wilson disease.

what is Wilson disease?

Wilson Disease is a genetic disorder causing excess copper accumulation in the body, primarily affecting the liver, brain, and other vital organs. One of the liver’s duties is to maintain the balance of copper in the body. The liver is also the main organ to store copper. In Wilson disease, when its storage capacity is full, copper is released into the bloodstream. It then accumulates in various organs such as the brain and the cornea of the eye, this copper overload can damage these organs.

causes

Wilson disease is caused by mutations in the ATP7B gene, which impairs copper metabolism and excretion. The disease is hereditary caused by an autosomal recessive pattern. Copper in the bloodstream may cause red blood cells to break down, causing anemia or gallstones.

complications

Copper in the bloodstream may cause red blood cells to break down, causing anemia or gallstones.

fast facts

Wilson Disease affects approximately 1 in 30,000 people globally and is typically diagnosed between ages 5 and 35, but can occur at any age.
There are at least 380 pathogenic gene variants associated with Wilson disease.
About 1 in 90 individuals may carry a single variant, making them unaffected carriers.
Acute liver failure due to Wilson disease has a mortality rate of 80-99% without liver transplantation.

symptoms

Wilson disease symptoms can vary widely and include neurological, psychiatric, eye, and liver symptoms, including:

Fatigue, jaundice (yellowing of the skin and eyes), abdominal swelling
Tremors, difficulty speaking, unsteady walking, and muscle stiffness
Mood swings, depression, anxiety
Brownish rings around the cornea (Kayser-Fleischer rings)

lifestyle impacts

You may experience fatigue, loss of appetite, and neurological symptoms such as: tremors, involuntary movements, coordination problems, and speech difficulties. You may experience eye changes, mental health issues such as, depression, anxiety, personality changes, or in rare cases, psychosis.

With proper management, many patients can lead normal lives as long as they adhere to a prescribed treatment plan consistently and maintain regular medical check-ups and monitoring.

what can I do?

diagnosis

Wilson disease can be diagnosed through blood tests, urine tests, liver biopsy, and genetic testing to confirm the diagnosis. A timely diagnosis can prevent severe damage to the liver and brain. It is also encouraged and useful for family members to receive genetic testing to determine their risk and for early intervention.

management

While Wilson disease is a serious condition, with proper management, many patients can lead normal lives. Dietary management includes avoiding foods high in copper such as shellfish, nuts, chocolate, mushrooms and liver. We recommend consulting a dietitian to create a copper-restricted meal plan. Long term management includes regular use of medication, routine medical check-ups, and regular blood test to monitor copper levels and liver function. Consider genetic counseling if you’re planning to have children, as the disease is inherited.

treatment

Wilson disease is a treatable disease with varying treatment options including medication. However, treatment for Wilson disease is a lifelong process. These treatments include:

Chelating Agents: Medications like D-penicillamine and trientine help remove excess copper from the body. Doctors may start with higher doses of chelating agents, then reduce to maintenance doses once copper levels are controlled.
Zinc Therapy: Zinc blocks the absorption of copper from the diet.
In severe cases of liver damage, a liver transplant might be considered.