Wilson disease

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Wilson disease affects your liver and other organs, such as your brain, eyes and kidneys. At Atrium Health Floyd and Harbin Clinic, you’ll find a multidisciplinary approach to care. Our gastroenterologists help you manage the disease and work with neurologists, psychiatrists, ophthalmologists, nephrologists and others to treat any complications that arise.

What is Wilson disease?

Wilson disease is a rare, inherited condition that causes a buildup of copper in your body.

Copper is an essential nutrient, but too much can be toxic.

Causes of Wilson disease

Your liver regulates the concentration of copper in your body. It absorbs copper from your blood, stores it and releases any excess through the bile.

People with Wilson disease have a genetic change (mutation) that affects their ability to excrete copper from the liver. As a result, copper levels rise in the liver, blood and other organs.

Wilson disease symptoms

Symptoms of Wilson disease can appear in childhood or later in life. The first signs usually appear in the teenage years. The specific symptoms vary.

Wilson’s disease can cause a wide range of liver conditions, such as liver inflammation (hepatitis) and rapid liver failure without warning (acute liver failure). Over time, scarring (cirrhosis) and chronic liver diseases can occur.

Symptoms related to these conditions include:

Fatigue
Nausea and vomiting
Pain and bloating in the abdomen
Poor appetite and weight loss
Swelling in the lower legs, ankles and feet (edema)
Yellowish tint to the skin and whites of the eyes (jaundice)

Excess copper can affect the nervous system, causing:

Difficulty swallowing
Headaches
Insomnia
Muscle spasms
Seizures
Tremors

Mental health symptoms include personality and behavior changes, anxiety and depression.

If copper deposits in the eye, a characteristic dark ring can form around the colored area of your eye (iris). These rings, called Kayser-Fleischer rings, can be brown, gold or green and are easier to see in light-colored eyes.

Wilson disease can cause problems in your blood, joints, kidneys and heart. Some symptoms associated with these problems include:

Enlarged or thickened heart muscle (cardiomyopathy)
Joint pain (arthritis)
Kidney stones
Low potassium levels in your blood
Low red blood cell count (anemia)

Wilson disease diagnosis

Early diagnosis of Wilson disease is important to prevent organ damage. However, diagnosis can be complex because symptoms often resemble other conditions.

The main tests doctors use to confirm a diagnosis include:

Eye exam using a special light called a slit lamp to check for Kayser-Fleischer rings
Blood tests to measure liver enzymes, copper levels and ceruloplasmin, a protein that transports copper in the bloodstream
Urine test on a sample collected over 24 hours to measure copper levels
Genetic testing to identify Wilson disease mutations
Liver biopsy to collect a small tissue sample for laboratory analysis
Imaging tests (CT, MRI) to check for changes in the brain associated with Wilson disease

Wilson disease risk factors & prevention

Wilson disease is hereditary, but most people have no family history. Inheritance follows an autosomal recessive pattern. That means you need to inherit a gene containing a Wilson disease mutation from both parents. About one in 90 people carries one of these genes without having the disease. If both parents are carriers, the risk of having a child with Wilson disease is 25%.

You can’t prevent hereditary diseases. However, genetic testing can determine if you and your partner are carriers and the risk of passing those genes to a child.

Wilson disease treatment

Wilson disease is manageable but requires lifelong care to control the amount of copper in your body. The main treatments include:

Dietary changes to avoid foods that are high in copper, such as shellfish, liver, mushrooms, nuts and chocolate
Medications that draw copper out of your body (chelating agents) or block copper absorption in your digestive tract (prescription zinc acetate)
Liver transplant if you develop liver failure or other treatments are not effective