Resources
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Articles / Journals
Professional, Cleveland Clinic medical. “Wilson Disease: Symptoms & Causes.” Cleveland Clinic. Accessed 24 July 2024.
mayoclinic.org
“Wilson’s Disease.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 2 Dec. 2023. Accessed 24 July 2024.
What is Wilson’s disease?
Wilson’s disease is a rare inherited condition that occurs due to the build up of copper in the body. It typically affects the liver, brain and the eyes as well as other organs. Built up copper in the body is normally removed by bile which is a substance produced by the liver and stored in the gallbladder; but people affected by Wilson’s disease have trouble with this function. Since “Wilson’s disease is caused by a changed gene from each parent” – it won’t affect an offspring unless both parents pass on the gene, it is hence inherited. It is difficult to estimate the number of people with Wilson’s disease as the carriers of the changed gene don’t show any symptoms but it is said to be roughly affecting around “1 out of every 30,000 people”. This changed gene is a mutated ATP7B gene which normally removes copper levels in the body. People diagnosed with Wilson’s disease are commonly between ages 5 and 35.
Wilson’s disease is present at birth but symptoms only build up as copper levels build up with age. Symptoms can include hemolytic anemia, arthritis, heart problems but they can also vary, affecting different parts differently.
- Liver
- Fatigue
- Hepatitis
- Dark urine
- Jaundice
- Nausea
- Unexpected weight loss
2. Eyes
- Green, gold, brown rings around eyes
3. Brain
- Problems with physical coordination
- Stiff muscles
- Tremors
- Anxiety
- Psychosis
To start off, one can ask their healthcare provider for whether they have a family history with Wilson’s disease. In terms of tests, the healthcare advisor will perform:
- An eye test
- Blood test
- Urine test
- Imaging tests
- Liver biopsy
Treatment includes taking chelating agents that help remove copper from the body, taking zinc to prevent copper absorption and eating a diet low in copper (avoiding liver, chocolate, shellfish, dried fruits etc). People diagnosed with Wilson’s disease normally require lifelong treatment as stopping it may cause acute liver failure. If one is pregnant, then a lower amount of chelating agents would be asked to be consumed due to the fetus being at a high risk of being exposed.
Wilson’s disease may be fatal if not treated, but it also involves some complications that come along with it, such as:
- Acute liver failure
- Cirrhosis
- Liver failure
These can be treated with either a surgery or a liver transplant.