Wilson disease is an inherited genetic condition that causes copper to build up in the body. It can cause physical and mental health effects, such as liver failure, bloating, depression, and anxiety. Treatment options include medication, diet changes, and — for up to 10% of people with Wilson disease — liver transplant surgery.
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What Is Wilson Disease?
Wilson disease is a rare genetic disorder in which too much copper builds up in your body. Small amounts of copper are vital for cells to work properly. But too much copper becomes toxic.
The liver is responsible for releasing any extra copper in the body into bile, which carries the copper and other toxins through the digestive tract. When affected by Wilson disease, the liver doesn’t release enough copper into bile, so it builds up in the body.
Your liver, brain, and eyes are the most common sites where too much copper builds up.
Early diagnosis and treatment may prevent serious, even life-threatening, problems.
How common is Wilson disease?
Wilson disease is rare, but experts are unable to determine an accurate number of people currently living with the condition. For some people, they may carry the gene but not present any symptoms of the disease.
What causes Wilson disease?
Wilson disease is a genetic mutation of the ATP7B gene, which prevents the body from expelling extra copper.
One faulty gene is needed from both parents for a child to have it.
If only one parent passes on the gene for Wilson disease, the child won't have it, but that child will be a carrier. If that child's future partner also carries the gene mutation that causes Wilson disease, their children will have it.
It is also possible to inherit Wilson disease from two parents who do not have it, but are carriers.
Because it is a genetic disorder, there is currently no way to prevent Wilson disease.
Wilson disease risk factors
Wilson disease is equally common in both men and women and occurs equally in all races. People typically present symptoms between the ages of 5 and 40, but it may develop at any age.
The only known risk factor is having a parent or sibling with the disorder.
If you have a parent or sibling with Wilson disease, your doctor may suggest genetic testing. If you do have it, the earlier you receive treatment, the more likely it will be successful.
Complications of Wilson disease
Wilson disease can lead to serious complications, which is why early diagnosis and following treatment methods are so important. Complications include:
- Blood problems — Excess copper can destroy red blood cells, leading to anemia and jaundice.
- Liver cirrhosis — Scar tissue can form in the liver due to excess copper, disrupting normal liver function. Cirrhosis also increases your chances of developing liver cancer.
- Liver failure — Both sudden and gradual liver failure can happen with Wilson disease. Liver failure often requires a liver transplant.
- Neurological disturbances — People with untreated Wilson disease may develop tremors and trouble walking or talking.
- Psychiatric problems — Personality changes, depression, and even bipolar disorder or psychosis can result from too much copper.
Wilson disease can be fatal if left untreated.
What Are the Signs and Symptoms of Wilson Disease?
Although people with Wilson disease are born with it, they won't show symptoms until copper builds up in their bodies. This buildup most commonly happens during the late teen or young adult years.
Wilson disease can affect different organs, so symptoms may vary. In addition, Wilson disease is also known to affect the nervous system and can cause mental health symptoms, as well.
The most common physical symptoms include:
- Abdominal pain.
- Brownish ring around the colored part of your eye, known as Kayser-Fleischer rings.
- Fatigue.
- Fluid buildup in your legs or stomach.
- Loss of appetite.
- Loss of physical coordination, including speech and swallowing.
- Muscle stiffness or uncontrolled movements.
- Yellowed eyes or skin.
The most common symptoms of the nervous system and affecting mental health are:
- Anxiety.
- Depression.
- Mood or behavior changes.
- Psychosis.
- Stiff muscles.
- Trouble swallowing or speaking.
- Tremors.
Other symptoms that may be related to Wilson disease are:
- Anemia.
- Arthritis or osteoporosis.
- Dark-colored urine.
- Heart problems like cardiomyopathy.
- Jaundice.
- Kidney problems.
- Light-colored stool.
- Nausea and vomiting.
For some people, symptoms only start occurring when they develop chronic liver disease, which can look like:
- Extreme tiredness and weakness.
- Irritated or itchy skin.
- Losing weight rapidly.
- Swelling in the legs, ankles, or feet.
When should I see a doctor about my Wilson disease symptoms?
If you have any of the above symptoms, you should speak with your doctor about Wilson disease, especially if you have a known relative with the condition.
How Do You Diagnose Wilson Disease?
Your doctor will first talk to you about your symptoms and your medical history as well as your family history.
Next, they will perform a physical exam depending on your symptoms. This may include examining your:
- Abdomen.
- Legs, ankles, and feet.
- Skin.
To make a formal diagnosis of Wilson disease, your doctor will use a variety of tests, which may include:
- Blood tests — You can expect blood samples to be drawn to test for certain amounts of substances in the body. This may include ceruloplasmin, copper, gene mutations, liver enzymes, and red blood cells.
- Eye exam — Doctors may perform a slit-lamp exam, where a special light is used to look for Kayser-Fleischer rings (copper colored rings around the corneas).
- Genetic testing — Mostly reserved if you have siblings or children with the disease.
- Liver biopsy — In this minor procedure, your doctor will remove a small piece of liver and send for testing. A pathologist will examine the liver sample for Wilson’s disease and any other liver problems.
- Urine tests — This helps determine how much copper your body passes each day and is usually collected over 24 hours.
If you are experiencing nervous system symptoms, your doctor may also use a CT or MRI scan to look at the affected areas more closely.
How Do You Treat Wilson Disease?
The first goal of treatment for Wilson disease is to help your body pass the extra copper it has stored up over time. After that, the goal of treatment is to prevent copper levels from ever rising again.
People with Wilson disease will need to manage the condition for the rest of their lives. This is mainly done through medication, mindful eating, and, if needed, surgery.
It is common to need regular blood and urine tests to monitor your body’s response to treatments over time.
For most people, a low-copper diet and medication are all they need to manage Wilson disease successfully. For those who develop liver failure, a liver transplant may be necessary.
Medicine to treat Wilson disease
Medications for Wilson disease fall into two main types:
- Chelating agents — These medications bind to copper, allowing it to leave the organs to enter the bloodstream. Once there, the kidneys can filter the copper, sending it out of the body via the urine. These medications come with side effects, and doctors usually start with a smaller dose that gradually increases.
- Prescription zinc salts — These drugs prevent the gut from absorbing copper from the diet. Doctors may prescribe a zinc medication as maintenance after a chelating agent has removed extra copper. The only known side effect of zinc is an upset stomach.
Your doctor can also prescribe medicine to help manage the symptoms of Wilson disease.
Your doctor may also suggest that you get hepatitis A and hepatitis B vaccines to help protect your liver.
Diet changes to treat Wilson disease
When you have Wilson disease, it's crucial to remove copper from your diet.
Follow these tips:
- Avoid foods that contain copper. These include organ meats, shellfish, nuts, mushrooms, and chocolate.
- Test your drinking water for copper, especially if your home has copper pipes. You may need to have a filter installed that will remove copper from your water supply.
- Do not take any multivitamins or other supplements that contain copper. Ask your doctor or pharmacist before taking any supplements.
Surgery to treat Wilson disease
About 5% to 10% of people with Wilson disease ultimately need a liver transplant.
When the liver is so damaged that it can no longer perform its duties, a liver transplant surgery removes the entire damaged organ and replaces it with a healthy liver, either from a deceased donor or part of a healthy liver from a living donor.
Transplant is a major surgery that requires a hospital stay and has complications, including the body rejecting the new organ.
If the new liver is accepted in the body, you will no longer have Wilson disease, because the cells that carry the mutated gene were in the damaged liver.
Why Choose UPMC for Wilson Disease Care?
Wilson disease is a lifelong disease with no cure.
To best manage this condition, you'll want to choose seasoned specialists who have treated many people with Wilson disease. That's what you'll get at the UPMC Center for Liver Care.
If Wilson disease pushes you into liver failure, you'll need a liver transplant.
Doctors with UPMC have performed more than 20,000 organ transplants since 1981. Their deep expertise with living-donor liver transplants may give you more options.
