Wilson Disease

Wilson disease is a rare inherited condition that causes copper to build up in your body. It can cause a range of liver, neurological, and psychological issues over time. Here’s what you need to know about this disease.

Causes and Risk Factors

This is an inherited disease, meaning it is passed down in families genetically. It is passed down as an autosomal recessive trait. To develop the disease, you must have a copy of the mutated gene from both parents. If only one parent has the defective gene, a child will not have Wilson disease. You are at a higher risk of Wilson disease if you have a parent or sibling with the condition. If you know you are a carrier of the defective gene, you should be aware that you could pass it to your children as well.

Symptoms of Wilson Disease

People with Wilson disease often develop symptoms between the ages of 5 and 35. However, it is possible to experience symptoms within the age range of 2 to 72. Symptoms occur due to copper buildup in the body, which is what this disease causes. When copper builds up in the brain, liver, and eyes, it can lead to various symptoms. Liver disease is most often the first feature of Wilson disease in children and teenagers. Symptoms associated with this include jaundice, lack of appetite, and abdominal swelling. People diagnosed later in adulthood are more likely to have developed neurological and psychological symptoms. The symptoms associated here include problems with speech or physical coordination, uncontrolled movements, mood swings, depression, and anxiety. Many people with Wilson disease, at all ages, develop golden-brown pigmentation around the corneas as well.


Diagnosing Wilson disease is often challenging since its symptoms are also caused by other liver diseases. Some of the behavioral changes that develop in people with the condition are hard to link to Wilson disease as well. One way doctors can diagnose the disease is during an eye exam using a microscope with a light source. They look for golden-brown pigmentation around your corneas (called Kayser-Fleischer rings) and a specific type of cataract associated with the disease. In fact, in some cases doctors find Wilson disease during routine eye exams.

Doctors can also use blood tests to measure copper levels in your blood, and can use urine samples to measure copper levels in your urine. They can also pursue a liver biopsy to get a sample of your liver to analyze in the lab. If you have parents or siblings with Wilson disease, doctors may suggest genetic testing to screen for the mutated gene that causes the disease.

Complications and Treatment

Over time, Wilson disease can be very serious or even fatal if left untreated. People with the condition can develop cirrhosis (liver scarring), liver failure, kidney problems, neurological problems, psychological issues, and blood problems. Ultimately, the copper buildup that results from the disease can cause severe or fatal damage to the brain, liver, and other organs.

Fortunately, Wilson disease is treatable. Doctors first prescribe medications that reduce copper levels in your body and prevent future buildup. It is likely that you will have to take a course of medications for the rest of your life to help manage copper levels in your body. Often, symptoms begin to improve once you start treatment. Your doctor will also instruct you to avoid certain copper-rich foods like shellfish, and may need to avoid alcohol if you have suffered liver damage from the condition. In more severe cases, you may need a liver transplant if you have suffered significant liver damage.

Our experienced team at GHP has years of experience treating patients with conditions including Wilson disease. We can help establish the best plan of care for your situation. Contact any of our office locations to learn about the options we offer and schedule an appointment today.