Question: What is Wilson disease?
Answer: Wilson disease is a genetic disorder that prevents the body from removing extra copper, causing copper to build up in the liver, brain, eyes, and other organs.

Your body needs a small amount of copper from food to stay healthy, but too much copper is harmful. Without treatment, Wilson disease can lead to high copper levels that cause life-threatening organ damage.
Question: How common is Wilson disease?
Answer: Experts are still studying how common Wilson disease is. Older studies suggested that about 1 in 30,000 people have Wilson disease.1 These studies were conducted before researchers discovered the gene mutations that cause Wilson disease.

Newer studies of people’s genes suggest that Wilson disease may be more common. A study in the United Kingdom found that about 1 in 7,000 people have gene mutations that cause Wilson disease.2

Experts aren’t sure why gene studies suggest that Wilson disease is more common than previously thought. One reason might be that some people with Wilson disease are not diagnosed. Another reason might be that some people have gene mutations for Wilson disease but don’t develop the disease.
Question: Who is more likely to have Wilson disease?
Answer: People have a higher chance of having Wilson disease if they have a family history of Wilson disease, especially if a first-degree relative—a parent, sibling, or child—has the disease.

People who have Wilson disease typically develop symptoms when they are between ages 5 and 40.3 However, some people develop symptoms at younger or older ages. Doctors have found the first symptoms of Wilson disease in infants as young as 9 months and in adults older than 70 years.1,4
Question: What are the complications of Wilson disease?
Answer: Wilson disease may lead to complications, but early diagnosis and treatment can lower your chances of developing them.

Acute liver failure

Wilson disease can cause acute liver failure, a condition in which your liver fails rapidly without warning. About 5 percent of people with Wilson disease have acute liver failure when they are first diagnosed.5 Acute liver failure most often requires a liver transplant.

Acute kidney failure and a type of anemia called hemolytic anemia often occur in people who have acute liver failure due to Wilson disease.

Cirrhosis

In cirrhosis, scar tissue replaces healthy liver tissue and prevents your liver from working normally. Scar tissue also partly blocks the flow of blood through the liver. As cirrhosis gets worse, the liver begins to fail.

Among people who are diagnosed with Wilson disease, 35 to 45 percent already have cirrhosis at the time of diagnosis.6

Cirrhosis increases your chance of getting liver cancer. However, doctors have found that liver cancer is less common in people who have cirrhosis due to Wilson disease than in people who have cirrhosis due to other causes.

Liver failure

Cirrhosis may eventually lead to liver failure. With liver failure, your liver is badly damaged and stops working. Liver failure is also called end-stage liver disease. This condition may require a liver transplant.