Wilson Disease
Also known as Hepatolenticular degeneration
This article is general health information for the selected condition. It is not a diagnosis and does not replace clinical judgement. If you have questions or need treatment advice, please consult a qualified healthcare professional.
What is wilson disease?
Wilson disease is a rare inherited disorder in which the body cannot excrete copper properly, so it accumulates in the liver, brain and eyes. It is one of the few genetic causes of liver disease that is highly treatable, which makes early diagnosis critical. Unexplained liver disease or new movement or psychiatric symptoms in a young person should prompt consideration.
Causes
- Mutations in the ATP7B gene
- Autosomal recessive inheritance
- Impaired biliary copper excretion
- Copper deposition in liver, brain and cornea
Symptoms
- Fatigue and abdominal pain
- Jaundice and features of liver disease
- Tremor and difficulty with coordination
- Slurred speech and swallowing difficulty
- Dystonia and abnormal movements
- Personality change, depression or psychosis
- Kayser Fleischer rings, brown copper rings in the cornea
Risk factors
- Both parents carrying an ATP7B mutation
- Sibling with Wilson disease
- Consanguinity
- Age of presentation typically 5 to 35 years
Diagnosis
- Low serum caeruloplasmin
- Raised 24 hour urinary copper excretion
- Slit lamp examination for Kayser Fleischer rings
- Liver biopsy measuring hepatic copper content
- ATP7B genetic testing
- Screening of first degree relatives
Treatment
- Chelating agents such as penicillamine or trientine
- Zinc salts to block intestinal copper absorption
- Lifelong treatment and monitoring, never stopped abruptly
- Avoiding high copper foods such as liver and shellfish
- Liver transplantation for fulminant liver failure
- Family screening and genetic counselling
Self care
- Take chelating medication or zinc every day without fail
- Never stop treatment, even when feeling completely well
- Avoid high copper foods such as liver, shellfish and nuts
- Check whether your drinking water is carried in copper pipes
- Avoid alcohol entirely
- Attend all monitoring blood and urine tests
- Wear medical identification
When to see a doctor
Book an appointment if:
- Unexplained liver blood test abnormalities in a young person
- New tremor, clumsiness or speech difficulty
- Personality or behaviour change
- Difficulty swallowing
- Relatives needing screening
- Side effects from chelation therapy
Some symptoms need emergency care rather than an appointment. See the warning signs listed above.
Prevention
- Wilson disease is inherited and cannot be prevented
- Organ damage is preventable through early diagnosis and lifelong treatment
- Screen all first degree relatives, including those without symptoms
- Genetic counselling for affected families
- Never interrupt treatment
Outlook
With early diagnosis and consistent lifelong treatment, most people with Wilson disease have a normal life expectancy and normal function. Neurological damage present at diagnosis may only partially reverse. Stopping treatment, even after years of stability, can cause acute liver failure within months, which is why adherence is emphasised above everything else.
Common questions
Why is early diagnosis so important?
Treatment started before irreversible liver or brain damage allows a normal life expectancy. Untreated Wilson disease is progressive and eventually fatal, so it is one of the most rewarding rare diseases to catch early.
Can treatment ever be stopped?
No. Treatment is lifelong. Stopping, even when someone feels entirely well, can lead to rapid copper reaccumulation and acute liver failure within months.
Should family members be tested?
Yes. Siblings have a one in four chance of being affected and should be screened even without symptoms, since treatment before organ damage produces the best outcomes.
References
Important: Dard AI is not a medical device and does not diagnose, treat, or replace clinician judgement. This article is general information only. Always consult a qualified healthcare professional about diagnosis and treatment, and seek emergency care for severe or rapidly worsening symptoms.