Wilsons Disease

Background

Wilson's disease is a rare genetic condition that affects the way your body handles copper. It is named after the doctor who described it in 1912. Copper is a mineral that's important for your health, but we only need very tiny amounts and our bodies usually eliminates any excess copper through urine. If you have Wilson's disease, your body has trouble getting rid of excess copper, which over time, can build up in your liver, brain, and other organs, causing damage. Brain specialists (neurologists), kidney specialists (nephrologists) and liver specialist (hepatologists) are the most common types of specialist doctors that patients with Wilson’s disease see. If you have any questions or concerns about your condition, be sure to talk to your specialist.

Clinical presentation

This damage can lead to a range of symptoms, including tremors, difficulty speaking, changes in behavior, problems with movement and liver damage. About half of people with Wilsons disease only have liver damage. This includes mild abnormalities in liver blood tests, up to serious and life threatening complications like cirrhosis and liver failure.

If left untreated, Wilson's disease can lead to serious health problems, including liver failure and brain damage. There is no cure for Wilson’s disease, but with treatment and regular monitoring, most people with Wilson’s disease live healthy, normal lives.

Treatment

Treatment for Wilson's disease typically involves medications that help your body get rid of excess copper (chelating agents) by binding the copper and helping you eliminate it out in your urine. You then take them for the rest of your life at a lower dose to prevent the copper building back up again. It is very important to stay on these medications long term, and take them every day. They are safe treatments available for women who are pregnant and breastfeeding. Your doctor might change these medications (d-penicillamine, trientine, zine) based on side effects, if it is not working very well based on your blood or urine tests. The main way your doctor has of monitoring your treatment is through analysis of your urine.

Diet

When first diagnosed with Wilson’s disease, you should follow a low copper diet, but once the copper levels go down to normal in your body and you are taking your medications, you won’t need to follow a strict diet.

Genetic testing

If you have Wilson's disease, you inherited one copy of the altered gene from each of your parents, who if have a normal copy of the gene as well, are carriers only, and have no symptoms. Your close relatives can be offered a genetic test to see if they are at risk of developing the disease. 

Useful links:

The Wilson’s Disease Support Group – UK - https://www.wilsonsdisease.org.uk/ is a useful website to visit, with lots of information.