Wilson’s disease is a rare genetic condition that affects the amount of copper in a person’s body. The copper accumulates in the organs, such as the brain, liver, and eyes.

Healthcare professionals are unsure how many people have the condition, but the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) estimate that it affects approximately 1 in 30,000 people worldwide.

Newer research from 2013 suggests that in the United Kingdom, it could be as many as 1 in 7,000 people.

In this article, we discuss what Wilson’s disease is. We also outline its symptoms, causes, complications, diagnosis, and treatment options.

An eye with a kayser-fleischer ring which is a symptom of Wilson's disease.Share on Pinterest
Photography courtesy of BMC Ophthalmol/Wikimedia

The body needs small amounts of copper from food to help make energy, blood vessels, and connective tissues. It also helps maintain the immune system and central nervous system.

The Office of Dietary Supplements note that the average adult aged 19 and over needs approximately 900 micrograms of copper per day. However, too much copper can be harmful to a person’s health.

Large amounts of copper can damage the tissues, which then scar tissue replaces. As the amount of scar tissue increases in the affected organ, the organ loses its ability to function properly.

Typically, the liver releases excess copper into the bile. The bile carries copper out of the body via the digestive tract.

With Wilson’s disease, the liver does not release enough copper into the bile. As a result, a person develops symptoms of copper poisoning.

Without treatment, Wilson’s disease may be fatal.

Wilson’s disease is a genetic condition, which means that a person inherits it from their biological parents.

It is due to an autosomal recessive trait. This means that both of a person’s biological parents need to be carriers of the particular mutated gene that causes Wilson’s disease and pass this gene on to them.

According to the NIDDK, the parents do not have to have Wilson’s disease themselves, but they both have to be a carrier of the mutated ATP7B gene.

The NIDDK also note that if both biological parents are carriers, there is a 25% chance that the child is either unaffected or affected. Also, there is a 50% chance of the child being a carrier themselves.

A person is born with Wilson’s disease, but they may not display symptoms until the copper in their body builds up to high levels.

When do symptoms appear?

According to the NIDDK, symptoms of Wilson’s disease usually first present when a person is between the ages of 5 and 40. However, they can appear when a person is only 9 months old, as well as later in life, in people older than 70.

Other times, people may not have any symptoms at all before a healthcare professional diagnoses the disease, and a person receives treatment.

The symptoms of Wilson’s disease may be widespread, affecting the liver, nervous system, brain, eyes, or other organs.

Liver symptoms

A person may develop liver disease. With that come a number of symptoms, including:

Some people may only develop symptoms if they develop chronic liver disease and cirrhosis complications. If this occurs, the symptoms can include:

Nervous system and mental health symptoms

A person may also experience neurological symptoms as a result of high levels of copper in their body. Although these symptoms are more common in adults, they can also affect children.

In approximately 40–50% of people with Wilson’s disease, their first symptoms may have to do with their central nervous system.

Symptoms include:

  • tremors
  • muscle stiffness
  • difficulties with physical coordination, speech, and swallowing

A person may also experience:

Eyes

A buildup of copper in the eyes can cause a “ring” to appear around the corneas. These rings, known as Kayser-Fleischer rings, may be green, gold, or brown.

The Wilson Disease Association note that Kayser-Fleischer rings will affect approximately 95% of people displaying neurological symptoms and 65% of people displaying liver symptoms.

There are different types of treatment medications for Wilson’s disease:

  • chelating agents, which bind to copper and help the body excrete it in the urine
  • zinc, which prevents copper absorption by the intestines

Are there any side effects?

A person may experience an upset stomach when taking zinc.

The chelating agents include penicillamine and trientine. A person is more likely to experience side effects when taking penicillamine. These may include:

A person may also need to take vitamin B6 supplements alongside chelating agents. It is worth noting, however, that such supplements can interfere with wound healing, so if a person is planning to have surgery, a doctor may prescribe lower doses.

During pregnancy

People who are pregnant should continue the treatment throughout pregnancy.

A healthcare professional may prescribe a lower dose of chelating agents. In most cases, people should continue taking the full dose of zinc.

As the fetus requires a small amount of copper, a lower dose of chelating agents can help ensure the copper levels are safe.

During lactation

If people are taking chelating agents, they should avoid breastfeeding or chestfeeding, as it may harm the baby.

There is not enough research regarding the safety of zinc and trientine in breast milk.

Treating Wilson’s disease is a lifelong commitment, as stopping treatment means that the copper will build up again.

During the initial treatment, a person should avoid foods rich in copper, which include:

People should also check whether their water supply runs through copper pipes in case this affects their drinking water. In these cases, people can use a water filter.

When a person’s levels of copper are safe, they should contact a healthcare professional to find out whether they can begin to eat foods rich in copper safely.

People should also consult a doctor before taking any supplements, as these may contain copper.

The British Liver Trust note that people with Wilson’s disease should avoid drinking alcohol. This is because it can worsen the impact of the condition.

Complications of Wilson’s disease may include:

  • acute liver failure
  • cirrhosis
  • brain damage

Additionally, it can cause other health conditions, such as:

Treatment can prevent or improve symptoms and organ damage.

A healthcare professional can diagnose Wilson’s disease based on a person’s medical history and diagnostic exams.

If a person has a family history of Wilson’s disease, sharing this information with a doctor may make diagnosis quicker, as the doctor will know what they are looking for.

Physical examinations may include:

  • An eye test: This will look for Kayser-Fleischer rings.
  • A physical exam: This is to look for changes in the skin, enlargement of the liver, swelling in the abdomen and lower limbs, and jaundice.
  • A 24-hour urine test: A laboratory can check how much copper is present in the urine.
  • A liver biopsy: If the blood and urine tests are inconclusive, a doctor may perform a liver biopsy to check for liver damage and to identify how much copper is present in the tissue.
  • Imaging tests: These include an MRI scan and a CT scan. A doctor will use them if a person has neurological symptoms.

A doctor may also perform blood tests to check:

  • levels of ceruloplasmin, which is a protein that carries copper in the blood
  • copper levels
  • liver enzymes called alanine transaminase and aspartate transaminase
  • red blood cells to look for anemia

There is nothing that a person can do to prevent Wilson’s disease, as it is a genetic condition. However, a person can help prevent any damage if they receive early diagnosis and treatment.

Due to the fact that there are almost 300 different mutations of the affected gene, there is also no way to screen for the disease in the general public.

That is why it is important for close relatives of those with Wilson’s disease to get tested, as they are at higher risk of having it themselves.

The Genetic and Rare Diseases Information Center note that the long-term outlook for those with Wilson’s disease varies.

Finding early that a person has Wilson’s disease can help reduce or prevent organ damage. People who receive treatment can typically live an average lifespan.

If a person does not receive treatment, it can lead to:

  • liver failure
  • severe brain damage
  • death

If a person discovers that a close relative has Wilson’s disease, they should request that a doctor carry out relevant testing.

If a person thinks that they are displaying symptoms of Wilson’s disease, liver failure, or neurological symptoms, they should also contact their doctor.

Wilson’s disease is a rare recessive autosomal genetic condition that results in high levels of copper accumulating in the body. It occurs due to a mutation in the ATP7B gene.

It can affect a person’s tissues, organs, and systems, including the liver, central nervous system, and eyes.

Early diagnosis and treatment is important in reducing any damage that occurs, as well as in preventing it.