Have you used a home testing kit for a medical diagnosis?

COVID-19 RATs are an example of these types of tests but we are interested in the many others on the market.

The University of Wollongong is conducting a small study about them and we'd like to hear from you if you have used one or considered using one.

Simply complete a short survey at:

From here, we may invite you to take part in a paid interview.

For more information, contact Dr Patti Shih: pshih@uow.edu.au

Take Survey Skip Survey
print   Print full article

What is it?

Wilson disease is a rare inherited disorder of copper metabolism where copper accumulates in the body particularly in the liver, nervous system and eyes. This build up of copper eventually leads to damage to the liver and brain which cause the symptoms of the disorder. It is also known as hepatolenticular degeneration

Copper is normally absorbed from the diet by the intestine and transported to the liver which determines how much copper needs to be kept by the body. Any excess is normally excreted into bile. In Wilson’s disease, the process whereby copper is excreted does not work properly. This causes copper to accumulate in the liver cells where it eventually becomes toxic leading to cell death and ultimately liver cirrhosis where the liver cells are replaced by scar tissue. Copper released into the bloodstream from dead liver cells is deposited in the heart and brain leading to disease.

The symptoms of Wilson disease most commonly start in young children but they can occur for the first time in adults as well. They include tiredness and jaundice if the liver is affected and neurological symptoms such as tremor or increased muscle tension (dystonia) if the brain is affected. People with Wilson disease may have copper deposited in their eyes which causes discolouring of the eye called Kayser-Fleischer rings. Large amounts of copper are excreted in the urine of people with Wilson disease.

Wilson disease occurs in about 1 in 40,000 of the population. People with the disease have two copies of the defective gene. About 1 in 100 in the population is a carrier for the disorder (meaning they have one copy of the defective gene). Carriers of the defective gene do not develop the disorder but may have some signs in their blood tests similar to people with the disease and may be at increased risk of developing other liver diseases.

Last Review Date: May 23, 2023

Was this page helpful?