Wilson disease

Metabolism refers to the countless and ongoing chemical processes inside the body that allow life and normal functioning. Wilson disease is a rare genetic disorder, an ‘inborn error of metabolism’ that prevents the body from eliminating copper. The build-up of copper in the body damages certain organs including the liver, nervous system, brain, kidneys and eyes.

In around half of cases, only the liver is affected. The copper begins to accumulate at birth, but symptoms appear most commonly during the teenage years.

Without treatment, the copper poisoning is fatal

There is no cure, but Wilson disease can be managed. Around one in 30,000 people have Wilson disease. It is caused by faults in a gene called ATP7B, which must be inherited from both parents for the disease to be expressed.

Wilson disease is also known as hepatolenticular degeneration

Symptoms of Wilson disease can appear in individuals ranging from three years to over 50 years of age. Symptoms depend on which structures of the body are affected by copper poisoning, but can include: dementia.

Enzymes are special proteins that help to spark chemical reactions in the body

The removal of excess copper relies on a particular enzyme, but this enzyme is defective in people with Wilson disease. Copper deposits then build up inside the body and cause damage. Wilson disease is inherited in an autosomal recessive manner.

This means that in order for a person to be affected by Wilson disease, they need to inherit two faulty genes, one from each parent.

If both parents carry a faulty gene for Wilson disease, each child has a one in four chance of inheriting both faulty genes and being affected by Wilson disease. If only one faulty gene is inherited, the child is a carrier but won’t develop any symptoms.

Most people with Wilson disease have no family history of the disorder. Copper is common to a wide range of foods, but the human body needs only tiny amounts.

The rest is excreted

In people with Wilson disease, the excess copper leaves the bloodstream and settles in various organs and structures, including the brain, spinal cord, eyes, liver and kidneys.

Copper is a toxic substance in large amounts, and causes damage to your tissues

The damaged tissues die and are replaced by scar tissue.

As more and more tissue is replaced by scars, the affected organ loses its ability to function until it eventually fails.

Without medical treatment, complications of Wilson disease can include: death

Wilson disease is diagnosed using a number of tests, including: biopsy of affected organs, particularly the liver.

Without treatment, Wilson disease is fatal

The longer the copper poisoning continues, the harder it is to successfully treat, so early diagnosis is important. The aims of treatment are to reduce the amount of copper in the body and control the symptoms.

Treatment must be lifelong

Death can occur in a matter of months if the treatment is stopped. Options may include:

• chelation therapy
• which is the use of medications (such as penicillamine) that bind to copper
• allow it to be excreted in the urine genetic counselling
• testing for the family

Management of Wilson disease is lifelong

It is important to switch to a low copper diet. Some of the foods to avoid include:

• whole wheat products. Symptoms of Wilson disease enlarged abdomen abdominal pain loss of appetite vomiting of blood splenomegaly (enlarged spleen) jaundice (yellowed eyes
• skin) hand tremors stiffness
• reduced movement of the extremities the movement of the body is jerky
• difficult to control speech difficulties personality changes symptoms of mental illness
• such as depression or homicidal tendencies lack of menstruation (amenorrhoea) confusion Cause of Wilson disease Effects of copper on the body Complications of Wilson disease liver disease
• such as hepatitis
• taken before eating
• to reduce the absorption of dietary copper zinc therapy to prevent the absorption of copper in the small intestine switching to a diet low in copper regular blood

Key Points

• copper begins to accumulate at birth, but symptoms appear most commonly during the teenage years
• Without treatment, the copper poisoning is fatal
• caused by faults in a gene called ATP7B, which must be inherited from both parents for the disease to be expressed
• Symptoms of Wilson disease can appear in individuals ranging from three years to over 50 years of age
• Symptoms depend on which structures of the body are affected by copper poisoning, but can include: dementia