Wilson disease is hard to diagnose because symptoms often look like other illnesses, such as hepatitis or changes in mental health. Your doctor will test your blood and urine. He or she may also use a special eye exam to check for Kayser-Fleischer rings, which are caused by extra copper in your eyes.
Symptoms
Wilson disease is caused by abnormal copper metabolism and excessive accumulation of copper in the liver, brain, and other organs. It can cause a variety of symptoms, including asymmetric tremor (resting and postural), drooling, weakness, clumsiness, mask-like facies, changes in personality, depression, anxiety and other mental health problems, and movement disorder chorea.
The first step in diagnosing Wilson disease is for your doctor to ask about your family history. Your doctor will also want to know when your symptoms began. They may then refer you to a doctor who specializes in the liver, known as a hepatologist.
Blood tests, urine tests, genetic testing and a liver biopsy can help diagnose Wilson disease. The blood tests look for higher-than-normal levels of copper and the protein ceruloplasmin, which carries copper in the body. They can also check for low red blood cell counts, called hemolytic anemia.
During the eye exam, the provider will use a special light to examine your cornea. This test is called a slit-lamp exam. In people with Wilson disease, copper deposits in the cornea form a green-to-brownish ring that surrounds the colored part of the eye. A slit-lamp exam can also detect changes in the way you blink and move your eyes.
Other symptoms include a hepatic (liver) enzyme called alanine transaminase or aspartate aminotransaminase that is above the normal range. In some people, these symptoms can lead to liver failure.
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Genetic testing can identify people who have the ATP7B gene mutation that causes Wilson disease. Doctors can also screen siblings to see if they have the gene mutation and might develop symptoms in the future.
If you have the gene mutation, your doctor might prescribe medicines to treat your symptoms. These drugs are called copper chelators and work by attaching to copper and forcing your organs to release it into the bloodstream. Your doctor might also recommend a medicine called zinc acetate, which stops your body from absorbing copper. He or she might also suggest ways to deal with other complications of Wilson disease, such as the damage it can do to your kidneys.
Diagnosis
Wilson’s disease can be hard to diagnose. It can be mistaken for other health conditions with similar symptoms, including hepatitis, brain-related problems and certain types of arthritis. Also, the symptoms often develop slowly over time.
The first signs of Wilson’s disease are usually a green-to-gold or brown ring around the center of the cornea in one or both eyes (Kayser-Fleischer rings). Your eye doctor can check these rings with special equipment during an exam called a slit lamp test. Other signs include liver or spleen problems, brain-related problems such as trouble thinking or uncontrollable movements and mental health problems like personality changes, depression or bipolar disorder.
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A blood test can pinpoint the genetic changes that cause Wilson’s disease. Your doctor can then check close relatives for the changed genes and screen them for signs of Wilson’s disease, so they can get treatment before they have any symptoms.
You may also have a physical exam that includes feeling your abdomen for swollen spleen and liver. Your doctor can also use a slit lamp to look for Kayser-Fleischer rings in your eyes and perform a liver biopsy. A liver biopsy is when a small piece of your liver is removed for a lab test to check for disease and look at the cells under a microscope.
If you have Wilson’s disease, medicines called copper chelating agents can help reduce your symptoms and prevent more damage to your liver or other organs. These medicines work by attaching to copper and causing your body to remove it through the kidneys. Penicillamine and trientine hydrochloride are the medicines used most often. You can also try a medicine called zinc acetate, but it works too slowly for severe Wilson’s disease. You can also have a liver transplant to treat advanced Wilson’s disease. If you get a transplant, your doctors will give you medicine after the surgery to keep the new liver from getting too much copper. You will take these medicines for life. It is very important to follow up with your doctor and make sure you’re taking the right dose of each medicine.
Treatment
Wilson disease is a rare genetic condition that causes excess copper to build up in various tissues, especially the liver and cornea of the eyes. Left untreated, this buildup can cause severe long-term disability and even death. Wilson disease is easier to treat when detected early. Doctors treat symptoms by lowering the amount of copper in the body through medicines and by monitoring copper levels with blood tests. Doctors may also recommend a liver transplant.
A healthcare provider diagnoses Wilson disease by asking questions about your family history and health, doing a physical exam and taking a blood sample. These lab tests check your liver function and the levels of copper and a protein called ceruloplasmin, which binds copper in the blood. The provider might also use a special lamp (a slit lamp) to look for brown Kayser-Fleischer rings in your eyes, which are a sign of excess copper.
The provider might order a liver biopsy to check the condition of your liver and to look for cirrhosis or liver damage. The provider might also order a DNA test to find out if you have the gene mutation that causes Wilson disease. This genetic test can be done on blood or saliva, and it is also possible to do it on cells taken from the inside of your cheek. Your provider can also give you a urine test to measure the amount of copper you excrete over 24 hours. The higher the level of copper in your urine, the more likely you are to have Wilson disease.
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Your provider might ask you to collect your urine at home for 24 hours in a container that is copper-free. Your provider will then send the sample to a lab to check your copper levels. This is the best way to get a fast and accurate result.
Your provider will prescribe medications that remove copper from the body, such as penicillamine and tetrathiomolybdate. They will also suggest that you eat a diet low in copper. These medications can take four to six months to work, but they improve symptoms in most people with Wilson disease. They can reduce or eliminate the need for a liver transplant in most patients with this disorder.
Prevention
Wilson disease is caused by a mutation in a gene that is passed from parents to their children. Close relatives of people with Wilson disease have a 50% chance of inheriting the faulty gene and developing symptoms themselves. Because of this, many doctors recommend genetic testing for anyone who has a sibling or child with the condition to see if they also have the mutated gene.
Symptoms of Wilson disease appear in childhood or early adulthood and can affect the liver, brain, eyes, and intestines. They may include vomiting, weakness, liver inflammation (hepatitis), yellowish skin, fluid in the belly (ascites), confusion, tremors, and trouble swallowing or speaking. If the mutated gene is not treated, complications can develop that are life-threatening. These include cirrhosis, liver failure, and damage to the central nervous system.
Treatment for Wilson disease starts with lowering copper levels by avoiding foods and taking medicine. If a person with the condition has severe symptoms, such as hepatitis or liver failure, they may need to have a liver transplant.
Northwestern Medicine has a team of experts who specialize in treating Wilson disease and who work together to optimize care. This multidisciplinary approach includes hepatology, neurology, psychiatry, nursing, and genetics. Our physicians have earned the Center of Excellence designation from the Wilson Disease Association for their expertise in diagnosing and caring for patients with this disease.
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In people with Wilson disease, a protein that normally helps to move copper out of the body becomes defective. As a result, excessive amounts of copper build up in the liver and other organs, including the brain.
The signs and symptoms of the disease vary among affected individuals, according to NIDDK. Liver-related symptoms, such as hepatitis and liver failure, usually occur first. Eventually, excess copper damages the brain, leading to tremors and problems with thinking or memory.
Symptoms of the disorder are not contagious, but the faulty gene can be passed on to children by their parents. If a parent has Wilson disease, they have a one in four chance of passing the gene to their children.
