This information was sourced from a webinar hosted by the American Liver Foundation. The webinar was created to educate and inform Wilson disease patients and caregivers, and features Dr. Jeff Bronstein, Assistant Professor of Neurology and the Director of Movement Disorders Program at UCLA. You can view the full webinar or read the selected highlights below.
1. Wilson disease is an autosomal recessive disorder
“Autosomal recessive” means that an affected individual inherits two copies of the disease-causing genetic mutation: one from their mother and one from their father, each of whom are considered carriers of the disease.
2. Wilson disease is caused by mutations in the ATP7B gene
Over 500 mutations in the ATP7B gene have been shown to cause Wilson disease. The mutations do not have to be the same in both ATP7B genes to cause the condition. The ATP7B gene is responsible for regulating copper metabolism.
3. There are likely many undiagnosed Wilson disease patients
1 in 10,000 to 30,000 individuals have Wilson disease and 1 in 90 individuals are carriers. However, there are likely many patients living with Wilson disease who are currently undiagnosed.
4. Wilson disease causes free copper to build up in the liver and infiltrate the bloodstream and brain
In patients without Wilson disease, copper in the body tightly binds to an enzyme called ceruloplasmin and is excreted through bile or released in the blood. In patients with Wilson disease, copper does not properly leave the body through bile and rarely binds to ceruloplasmin. Free copper (not bound to ceruloplasmin) becomes elevated in the bloodstream and damages the brain.
5. There are four main organs involved in Wilson disease
The four primary organs involved in Wilson disease are the liver, brain, blood and corneas.
- Liver-related symptoms may include abdominal pain, bleeding and jaundice.
- Brain-related symptoms may include depression, behavioral issues, movement disorders and other psychiatric problems.
- Blood-related symptoms may include red blood cell abnormalities and low platelet counts.
- The symptoms related to the cornea are Kayser-Fleischer rings, or dark rings that appear around the iris that are caused by copper buildup in the cornea.

However, it is difficult to diagnose Wilson disease based on symptoms alone. Often, patients need a liver biopsy or genetic test to confirm the diagnosis.
6. Most patients start experiencing symptoms in their teens or early twenties
While most patients start presenting symptoms of the disease in their teens or early twenties, it is possible for symptoms to start before the age of five and after the age of 50. Symptoms in Wilson disease patients can present in many different ways. For young patients, it is more typically liver problems rather than neurological problems. For late teens, it is usually psychiatric problems such as depression and anxiety.
7. No two Wilson disease patients are the same
The presentation of symptoms can be very different in individuals with Wilson disease, which can lead to trouble when trying to get a diagnosis. Many patients experience varying degrees of neurological issues such as movement disorders (tremors, dystonia), speech difficulties, swallowing difficulties and walking difficulties. Two-thirds of all Wilson disease patients experience physiatric problems such as depression and anxiety, which often present before neurological and liver-related symptoms. Liver involvement in patients varies from asymptomatic abnormalities in blood tests to complete liver failure.
8. Compliance is key to treating Wilson disease
Wilson disease patients are encouraged to avoid foods high in copper content, such as liver, nuts, beans, mushrooms and bitter-sweet chocolate. They are encouraged to think of their copper intake as a “bank account” -- if they eat a meal that is fairly high in copper content, their next meal should be extremely low in copper content. When patients are first diagnosed, they are encouraged to eat less than 1 milligram of copper per day.
9. Medications play an important role for Wilson disease patients
There are currently three FDA-approved medications to treat Wilson disease and another undergoing clinical trials. The availability of these medications is quite significant as only 5% of rare diseases have an FDA-approved treatment. Two of the drugs are intended to chelate (bind the copper to ceruloplasmin) and promote urinary excretion of copper. Patients with neurological symptoms are started on a low dose, as chelation can cause symptoms to worsen before getting better. Asymptomatic and mildly-affected individuals can take zinc to inhibit copper absorption. It is important that all medications are taken on an empty stomach.

10. Liver transplants have been known to cure Wilson disease
Liver transplants are safe and effective for curing Wilson disease in patients with acute liver failure, however there is a slightly lower survival rate for Wilson patients as compared to patients of other considerations needing transplants. It is important to note that liver transplants cannot reverse neurological damage that has been caused by copper build up in the brain.