Wilson's disease

May 2017


Wilson's Disease is a rare inherited disorder in which too much copper builds up in your body.

Your body needs some copper from food to function, but if you have Wilson's disease, your body cannot get rid of any excess copper.

The copper then builds up in your liver, eyes, brain, and kidneys, and can lead to serious consequences and even death.

Statistics and Genetics


Wilson's Disease is rare and affects 1 in 300,000 people. The disease is passed down through generations via "recessive" genes. This means that your parents both carry a gene (without knowing it) and have passed both of those genes onto you. If you and your partner both carry a recessive gene, there is a 25 % risk that your child will be affected.

Symptoms


Symptoms are generally noticed at aged 6 to 20 years, even though patients have had the condition since birth. The copper tends to accumulate in your liver, eyes, kidneys and brain:
  • Liver (45% of patients):
    • Liver symptoms usually appear first.
    • The copper is toxic to the liver and can cause hepatitis (inflammation of the liver), which may in turn cause you to experience abdominal pain, vomiting and jaundice.
    • If the copper is not removed, then the liver becomes scarred (cirrhosis) and this can lead to liver failure.
  • Brain and neurological symptoms (35% of patients):

Copper in your brain can cause:
  • Physical symptoms such as reduced coordination, unsteadiness and shaking or tremor. Also, you may experience difficulty with speech or swallowing, headaches, and even seizures. Eventually, the excess copper can cause muscular weakness, stiffness and dementia.
  • Psychological symptoms such as difficulty concentrating, low mood, depression.
  • Eye symptoms:. Copper can build up in the corneas of your eyes. This can cause "Kayser-Fleischer rings" which your doctor may recognize as a brown pigment in your eyes.
  • Other symptoms:

Diagnosis


If Wilson's disease runs in your family, you and your siblings should be screened as well.

If you or your partner is pregnant, it may be possible for you to have tests completed during pregnancy. Discuss this with your GP or obstetrician who will be able to advise you further.

Your GP will probable initiate some investigations at first but will most probably refer you to a specialist if he or she suspects Wilson's disease.

The investigations you may have are:
  • Caeruloplasmin levels in your blood - this is a protein that binds copper in your blood and levels in Wilson's disease are low.
  • Your urine may be examined for copper - levels will be high in Wilson's.
  • Your GP may refer you to an optician to examine for copper deposits in your eyes.
  • You may have a sample of your liver (a biopsy) examined to look for copper deposits
  • Imaging of your brain - CT or MRI to look for copper deposits.

Treatment


It is essential that you have treatment for life.
  • The earlier treatment is started, the better the prognosis.
  • Food with high copper levels should be avoided. This includes:
    • Shellfish and seafood
    • Some meats
    • Nuts
    • Mushrooms
    • Chocolate, especially dark chocolate
  • Drug treatment is aimed at trying to clear the excess copper:
    • Penicillamine is given to remove copper via urine. It is called a "chelating agent".
    • Trientine is another chelating agent.
    • Zinc works by stopping your digestive system from absorbing copper from food. Hence, as it prevents further absorption, it does remove any excess copper already present. Zinc is better tolerated than penicillamine and trientine, but is usually used at early diagnosis or in maintenance therapy.
  • Some people do not respond to drug treatment and this can lead to liver failure. The only option after this would be to have a liver transplant.

Prognosis


If treatment is started early, you can expect a normal life expectancy. With treatment, symptoms should be able to be controlled and your specialist can advise you on this. If have no treatment, Wilson's disease is usually fatal by the age of 40 years.

Further help and support


You can find more information and advice regarding Wilson's disease at:

Wilson's Disease Support Group http://www.wilsonsdisease.org.uk

British Liver Trust http://www.britishlivertrust.org.uk

Related


La maladie de Wilson
La maladie de Wilson
La enfermedad de Wilson
La enfermedad de Wilson
Latest update on November 12, 2013 at 04:37 AM by Jeff.
This document, titled "Wilson's disease," is available under the Creative Commons license. Any copy, reuse, or modification of the content should be sufficiently credited to CCM Health (health.ccm.net).