Liver-related symptoms
- Fatigue
- Jaundice (yellowing of the skin or eyes)
- Abdominal pain
- Liver inflammation or damage
Understanding the Condition
What is Wilson's Disease?
Wilson's disease is a rare inherited condition that causes copper to build up in the body because it cannot be removed properly. Copper can accumulate in organs and tissues, particularly the liver and brain, and can also affect the eyes.
Copper is an essential mineral that the body needs in small amounts. In Wilson's disease, excess copper can accumulate over time and may cause damage to organs and tissues.
An inherited ATP7B gene disorder
A person inherits two altered copies of the ATP7B gene—one from each parent.
The Genetic Cause
Why copper builds up
Wilson's Disease occurs when a person inherits two faulty copies of the ATP7B gene—one from each parent. This gene normally helps the liver move excess copper into bile so it can leave the body.
When ATP7B does not work correctly, copper cannot be removed properly. It gradually accumulates and may cause serious health complications if the condition is not treated.
01
Inherited
Two altered gene copies
02
Copper builds
The liver cannot remove it normally
03
Organs affected
Especially liver, brain, and eyes
Symptoms
Symptoms can look different for everyone
Wilson's disease can affect different parts of the body, so symptoms and signs can vary from person to person. Some people may experience liver, neurological, psychological or eye-related symptoms, while others may experience a combination.
Neurological symptoms
- Tremors or shaking
- Difficulty speaking
- Problems with balance or walking
- Muscle stiffness
- Changes in movement or coordination
Psychological symptoms
- Depression
- Anxiety
- Mood changes
- Personality changes
- Difficulty concentrating
Eye-related signs
- Kayser–Fleischer rings
- Golden-brown rings around the cornea caused by copper deposits
These are some of the symptoms and signs associated with Wilson's disease, but they are not a complete list and can vary significantly from person to person. If you experience new, changing or concerning symptoms, speak with a healthcare professional.
Diagnosis
How is Wilson's Disease diagnosed?
Diagnosing Wilson's disease usually involves a combination of medical history, physical examination and different tests. There is no single test that can confirm Wilson's disease in every person.
1
Blood tests
Blood tests can measure ceruloplasmin and copper levels.
2
24-hour urine copper test
Measures the amount of copper released in urine over a 24-hour period.
3
Eye examination
An eye examination can check for Kayser–Fleischer rings, which are caused by copper deposits around the cornea.
4
Liver biopsy
In some cases, a liver biopsy may be used to measure the amount of copper in liver tissue.
5
Genetic testing
Genetic testing can look for changes in the ATP7B gene, which is associated with Wilson's disease.
6
MRI scan
An MRI may be used when neurological symptoms are present to assess the brain.
The tests used will depend on the individual. A healthcare professional will consider a person's symptoms, examination, family history and medical history when deciding which investigations are appropriate.
Treatment
Wilson's Disease is treatable
With early diagnosis, appropriate treatment and lifelong management, many people with Wilson's disease can live fulfilling lives.
Chelating medications
Medicines such as penicillamine and trientine help remove excess copper from the body by increasing the amount of copper excreted in urine.
Zinc therapy
Zinc reduces the amount of copper absorbed from food and may be used as part of long-term treatment for some people.
Dietary adjustments
Depending on individual circumstances, a healthcare professional or dietitian may recommend limiting foods that are particularly high in copper, especially during the early stages of treatment.
Foods often limited
High-copper foods to discuss with your care team
ShellfishLiver and other organ meatsChocolateNutsMushrooms
Always speak with a healthcare professional before starting, stopping, or changing medication, supplements, diet, or any other part of your treatment plan.
Living With Wilson's Disease
Consistent care makes a difference
Ongoing treatment and regular monitoring help keep copper levels controlled and protect long-term health.
- Take medication consistently as prescribed
- Attend regular medical appointments
- Monitor symptoms and changes in health
- Follow personalized dietary recommendations
- Keep in regular contact with your healthcare team
Medical information notice
This page provides general education and does not replace diagnosis or treatment from a qualified healthcare professional. Seek urgent medical help for severe or rapidly worsening symptoms.