What is Wilson disease?
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.
How common is Wilson disease?
Experts are still studying how common Wilson disease is. Older studies suggested that about 1 in 30,000 people have Wilson disease. 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.
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.
Who is more likely to have Wilson disease?
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. 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.
What causes Wilson disease?
Mutations of a gene called ATP7B cause Wilson disease. These gene mutations prevent the body from removing extra copper. Normally, the liver releases extra copper into bile. Bile carries the copper, along with other toxins and waste products, out of the body through the digestive tract. In Wilson disease, the liver releases less copper into bile, and extra copper stays in the body.
The ATP7B mutations that cause Wilson disease are inherited, meaning they are passed from parent to child. These mutations are autosomal recessive , meaning that a person must inherit two ATP7B genes with mutations, one from each parent, to have Wilson disease. People who have one ATP7B gene without a mutation and one ATP7B gene with a mutation do not have Wilson disease, but they are carriers of the disease.
People can inherent Wilson disease if both parents are carriers who don’t have the disease.
What are the symptoms of Wilson disease?
The symptoms of Wilson disease vary. Wilson disease is present at birth, but the symptoms don’t appear until the copper builds up in the liver, the brain, or other organs.
Some people do not have symptoms of Wilson disease before they are diagnosed with the disease and treated. If you do have symptoms, the symptoms may be related to your liver, nervous system and mental health, eyes, or other organs.
People with Wilson disease may develop symptoms of hepatitis, or inflammation of the liver. In some cases, people develop these symptoms when they have acute liver failure. These symptoms may include
- feeling tired
- nausea and vomiting
- poor appetite
- pain over the liver, in the upper part of the abdomen
- darkening of the color of urine
- lightening of the color of stool
- yellowish tint to the whites of the eyes and skin, called jaundice
Some people with Wilson disease have symptoms only if they develop chronic liver disease and complications from cirrhosis. These symptoms may include
- feeling tired or weak
- losing weight without trying
- bloating from a buildup of fluid in the abdomen, called ascites
- swelling of the lower legs, ankles, or feet, called edema
- itchy skin
Nervous system and mental health symptoms
People with Wilson disease may develop nervous system and mental health symptoms after copper builds up in their body. These symptoms are more common in adults but sometimes occur in children. Nervous system symptoms may include
- problems with speech, swallowing, or physical coordination
- stiff muscles
- tremors or uncontrolled movements
Mental health symptoms may include
- changes in mood, personality, or behavior
Many people with Wilson disease have Kayser-Fleischer rings, which are greenish, gold, or brownish rings around the edge of the corneas. A buildup of copper in the eyes causes Kayser-Fleischer rings. A doctor can see these rings during a special eye exam called a slit-lamp exam.
Among people who have nervous system symptoms of Wilson disease, more than 9 out of 10 have Kayser-Fleischer rings. However, among people who have only liver symptoms, 5 or 6 out of 10 have Kayser-Fleischer rings.
Other symptoms and health problems
Wilson disease can affect other parts of your body and cause symptoms or health problems, including
- a type of anemia called hemolytic anemia
- bone and joint problems, such as arthritis or osteoporosis
- heart problems, such as cardiomyopathy
- kidney problems, such as renal tubular acidosis and kidney stones