Liver Foundation of WA | Wilson’s Disease
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Wilson’s Disease

Wilson’s Disease occurs when the body retains too much copper. Copper is a vital mineral for normal growth and health of our bodies. Yet when copper is not metabolised effectively, an overload of the mineral can occur. An overload of copper is toxic and if Wilson’s disease is left untreated it is likely to be fatal. Luckily if it is diagnosed early treatment is very effective.

What is copper and why do I need it in the first place?

Copper is a mineral required to help your body grow. Our bodies do not naturally produce copper; it is absorbed by our bodies from the food that we eat. Copper is found is many foods including seafood, organ meats, nuts and seeds, wheat bran, grain products and cocoa products

With a healthy diet, normal absorption and removal, an adult should only have 100mg of copper in their body.

Copper as a trace mineral is essential for simple metabolic processes, the development of brain and central nervous system, the formation of connective tissue that binds the parts of your body together, and the building of your bones. Copper also helps to convert iron into a form that is more easily absorbed, as well as helping to transport it around the body.

How does a healthy body deal with copper?

Copper is mostly stored in the bones and muscles. It is the liver that regulates how much copper in in our blood.

Copper taken in from the food you eat is absorbed by your intestine. It then binds to a protein, albumin, which circulates in your blood. This is then transported to your liver for storage.

Normally any copper that is not used by your body is carried away by bile and excreted from the body. Biliary excretion is the only means of removing copper. When this ‘pathway’ is not working properly an accumulation of copper in the body will occur. This is how Wilson’s Disease occurs.

How does too much copper have a negative impact on my body?

Too much copper leads to serious and possibly irreversible damage to the liver if not treated. When the copper storage capacity of your liver cells is used up, the copper ‘spills’ into the bloodstream and deposits in other parts of your body, primarily the brain but also the eyes, kidneys and joints.

The liver is the first organ affected. For approximately half those diagnosed with Wilson’s Disease this is the only affected organ. The toxic effect on the liver cells can cause a condition called hepatitis in which your liver becomes inflamed and swollen leading to scarring (fibrosis). This in turn can lead to cirrhosis and possibly liver failure.

A build-up of copper also affects the brain and spinal cord which can lead to mental confusion and physical symptoms such as tremors and clumsiness. These usually begin in your teens or early twenties but may be seen much earlier or later in life.

The disease can also interfere with the function of your kidneys and may lead to weak, brittle bones (osteoporosis).

How is Wilson’s Disease genetic?

The gene linked to Wilson’s disease is called ATP7B and contains the code of instructions for the production of a protein that transports copper within the liver cells into bile for excretion from the body. In Wilson’s, a mutation on the ATP7B gene affects its coding for the copper carrying protein which reduces the ability to pass enough copper into the bile which in turn leads to a build-up of copper in the liver cells.

Genes are passed onto you from your parents.

Each cell should contain one gene from your father and one from your mother.

To show symptoms of Wilson’s Disease you must have two mutated ATP7B genes – one from your mother and the other from your father.

If and you have just one mutated gene then you are known as a “carrier” and thus can pass the gene onto your children – but only if the father of your children is also a carrier will your children be symptomatic of Wilson’s Disease.

Symptoms of Wilson’s

Symptoms of Wilson’s disease change from person to person depending on which parts of your body have been affected by copper poisoning though general symptoms include:

  • Enlarged abdomen
  • Abdominal pain
  • Loss of appetite
  • Vomiting of blood
  • Splenomegaly (enlarged spleen)
  • Jaundice (yellowed eyes and skin)
  • Hand tremors
  • Stiffness and reduced movement of the extremities
  • The movement of the body is jerky, slow and difficult to control
  • Speech difficulties
  • Personality changes
  • Symptoms of mental illness, such as depression or homicidal tendencies
  • Lack of menstruation (amenorrhoea)
  • Confusion
  • Dementia
  • Kayser-Fleischer rings

Diagnosis of Wilson’s

Wilson’s disease can be diagnosed through a variety of different tests. The tests can be used for both symptomatic patients and people who show no signs of the disease. They include:

  • Ophthalmologic slit lamp examination for Kayser-Fleischer rings
  • Serum ceruloplasmin test (blood tests to check copper levels)
  • 24-hour urine copper test
  • Genetic testing, haplotype analysis for siblings and mutation analysis.
  • Liver biopsy for histology and histochemistry and copper quantification

Many individuals suffering from Wilson’s Disease are asymptomatic or show little or no sign of poor health. As early detection is vital to ensure the disease is treated as early as possible this is concerning.

Treatment

When diagnosed early Wilson’s Disease can be easily treated. Treatment depends on indivdual symptoms and how excess copper has affected the body. Some common treatments include:

  • Vitamin B6 – to boost the nervous system
  • Potassium supplements – to reduce the absorption of dietary copper
  • Zinc therapy – to prevent the absorption of copper in the small intestine
  • A low copper diet
  • Chelation therapy – taking medications (such as penicillamine) that bind to copper, allowing it to be excreted in the urine
  • Regular blood and urine tests – to check copper levels so that treatment can be adjusted accordingly
  • Liver transplant in severe cases
  • Genetic counselling and testing for the family