Wilson's Disease

What is Wilson's Disease?

Wilson's Disease is a rare inherited disorder that causes copper to build up in your liver, brain, and other vital organs. Normally, your liver filters extra copper from your blood and releases it into bile, which your body eliminates. When you have Wilson's Disease, this process doesn't work properly.

Copper is an essential mineral your body needs in small amounts. It helps build red blood cells, keeps nerves healthy, and supports your immune system. But too much copper becomes toxic. As copper accumulates over time, it damages tissues and organs, particularly your liver and brain.

Wilson's Disease affects about 1 in 30,000 people worldwide. Symptoms usually appear between ages 5 and 35, though they can show up at any age. Without treatment, the condition can be life-threatening. With early diagnosis and proper management, most people with Wilson's Disease can live normal, healthy lives.

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Symptoms

Fatigue and weakness that doesn't improve with rest
Jaundice, which causes yellowing of the skin and eyes
Swelling in the legs, ankles, or abdomen
Abdominal pain or bloating
Tremors or difficulty with coordination and movement
Difficulty speaking, swallowing, or walking
Behavioral changes, mood swings, or personality shifts
Depression, anxiety, or psychosis
Kayser-Fleischer rings, which are golden-brown rings around the cornea of the eye
Muscle stiffness or rigid movements

Many people with Wilson's Disease have no symptoms in the early stages. The condition may be discovered only through family screening or routine blood work. This makes early testing important for anyone with a family history of the disease.

Causes and risk factors

Wilson's Disease is caused by mutations in the ATP7B gene. This gene provides instructions for making a protein that moves copper out of your liver. When the gene doesn't work properly, copper accumulates instead of being eliminated. You inherit Wilson's Disease when both parents pass down a mutated copy of this gene, even if neither parent has symptoms of the disease.

Your risk is higher if both parents carry the gene mutation, or if you have siblings or other close relatives with Wilson's Disease. Certain populations, including people of Eastern European, Sicilian, and Middle Eastern descent, have slightly higher carrier rates. There are no lifestyle factors that cause Wilson's Disease, though diet and medication affect how the condition is managed once diagnosed.

How it's diagnosed

Doctors diagnose Wilson's Disease using a combination of blood tests, urine tests, eye exams, and genetic testing. Blood tests measure ceruloplasmin, a protein that carries copper in your blood. Most people with Wilson's Disease have lower ceruloplasmin levels. Blood tests also check copper levels directly, as well as liver enzymes like alkaline phosphatase, which can be abnormally low in Wilson's Disease.

Rite Aid offers testing for ceruloplasmin, copper, and alkaline phosphatase as add-ons to our flagship blood panel. These tests help identify copper metabolism problems before serious symptoms develop. Your doctor may also order a 24-hour urine collection to measure copper excretion, perform a liver biopsy to measure tissue copper levels, or check for Kayser-Fleischer rings during an eye exam.

Treatment options

Chelation therapy with medications like penicillamine or trientine, which bind to copper and help your body eliminate it through urine
Zinc supplements, which block copper absorption from food in your digestive tract
Low-copper diet, avoiding foods high in copper such as shellfish, liver, mushrooms, nuts, and chocolate
Regular monitoring with blood tests to track copper and ceruloplasmin levels
Liver transplant in severe cases when liver damage is advanced or life-threatening
Physical therapy and occupational therapy to help manage movement difficulties
Mental health support for mood and behavioral symptoms

Treatment for Wilson's Disease is lifelong. Most people need to take medication every day and follow dietary restrictions. With consistent treatment started early, liver and neurological damage can often be prevented or reversed. Never stop treatment without talking to your doctor, as copper levels can quickly become dangerous again.

Frequently asked questions

The first signs vary depending on which organs are affected first. Some people develop liver problems like fatigue, jaundice, or abdominal pain. Others first experience neurological symptoms such as tremors, difficulty speaking, or coordination problems. Many people have no noticeable symptoms until the disease is more advanced, which is why family screening is so important.

Wilson's Disease follows an autosomal recessive pattern of inheritance. This means you need to inherit one mutated ATP7B gene from each parent to develop the disease. If both parents are carriers, each child has a 25% chance of having the disease, a 50% chance of being a carrier, and a 25% chance of inheriting two normal genes.

Yes, blood tests are a key part of diagnosing Wilson's Disease. The main tests measure ceruloplasmin levels, which are usually low in people with the condition, and copper levels in the blood. Alkaline phosphatase, a liver enzyme, may also be abnormally low. These tests help doctors identify copper metabolism problems, though additional testing is often needed to confirm the diagnosis.

Untreated Wilson's Disease leads to progressive liver damage, including cirrhosis and liver failure. Copper buildup in the brain causes permanent neurological damage affecting movement, speech, and mental function. Copper can also accumulate in other organs like the kidneys, heart, and eyes. Without treatment, the condition is often fatal.

Avoid foods high in copper, including shellfish like oysters and lobster, organ meats like liver, mushrooms, nuts, seeds, dried beans, and chocolate. You should also avoid multivitamins containing copper. Drinking water from copper pipes may need to be tested and filtered if copper levels are high.

Wilson's Disease is not curable, but it is highly treatable. With lifelong medication and dietary changes, most people can prevent serious complications and live normal lives. Treatment removes excess copper from your body and prevents new buildup. Starting treatment early, before significant organ damage occurs, leads to the best outcomes.

Most doctors recommend blood tests every 3 to 6 months once your treatment is stable. Tests typically check ceruloplasmin, copper levels, and liver function markers. More frequent testing may be needed when you first start treatment or if your medication dose changes. Regular monitoring helps ensure treatment is working and copper levels stay in a safe range.

Yes, Wilson's Disease can affect children, though symptoms most commonly appear between ages 5 and 35. Children may develop liver problems first, including unexplained hepatitis or cirrhosis. Early testing is critical for children who have siblings or parents with the disease. Starting treatment before symptoms appear can prevent all complications of the condition.

Kayser-Fleischer rings are golden-brown or greenish rings that appear around the edge of the cornea in the eye. They form when copper deposits accumulate in the eye tissue. These rings are present in most people with neurological symptoms from Wilson's Disease, but may not appear in people who only have liver involvement. An eye doctor can detect them during a special eye exam.

Yes, most people with Wilson's Disease can have children safely. You should work closely with your doctor before and during pregnancy to adjust your medications if needed. Some Wilson's Disease medications are safer during pregnancy than others. Your children will need genetic testing since they have a higher chance of being carriers or having the disease if your partner is also a carrier.