Health condition
Wilson's disease
Wilson's disease is a rare inherited disorder of copper metabolism in which copper accumulates in the liver and brain - serious untreated, but very manageable with lifelong medication.
Why trust this guide
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Editorial team
Written by our editorial team from the UK sources listed on each page.
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Sourced from guidance
Checked against current NHS and UK specialist society guidance at the time of review.
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Current for 2026
Reviewed on 2026-09-27 with the next review scheduled for 2027-09-27.
Key facts
The essentials at a glance.
Which gene and test confirm it, who should be tested in the family, and which specialist to see.
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Caused by variants in the ATP7B gene, inherited in an autosomal recessive pattern
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Suspect it in unexplained liver disease or a movement or psychiatric disorder in anyone under about 40
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Diagnosis combines serum caeruloplasmin, 24-hour urinary copper, slit-lamp examination for Kayser-Fleischer rings and ATP7B genetic testing
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Siblings of a diagnosed patient must be screened - presymptomatic treatment prevents disease entirely
Understanding the condition
What it is and what happens next.
What causes it, how it is confirmed, and the testing and specialist routes available in the UK.
What it is and how it presents
In Wilson's disease the liver cannot excrete copper into bile, so copper accumulates first in the liver, causing anything from mildly abnormal blood tests to acute liver failure, and later in the brain, producing tremor, clumsiness, slurred speech or psychiatric change in a young adult. Because it is treatable at every stage before irreversible damage, the diagnosis is one clinicians are taught never to miss, yet delays of years are common because early features are so nonspecific.
Testing, surveillance and specialist care
No single test is perfect, so hepatologists combine caeruloplasmin, urinary copper, eye examination and ATP7B sequencing, which also enables definitive screening of brothers and sisters, each of whom has a 1 in 4 risk. Treatment with chelating agents or zinc, continued for life, allows a normal life expectancy when started early. NHS clinical genetics services carry some of the longest waits in the health service, often many months for a first appointment, whereas private genetic testing and a specialist review can typically be arranged within around two weeks.
Seeing a specialist
Who to see, and how quickly you can be seen.
The specialist for this condition is usually a hepatologist. Your GP can refer you on the NHS, or you can arrange a private consultation directly.
A quiet reminder
This guide is for information, not medical advice.
Your GP knows your history and can tell you which parts apply to you. If in doubt, see them - and seek urgent care for any emergency symptoms.
Frequently asked
Common questions about Wilson's disease.
Quick, plain-English answers to what people ask us most.
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What is Wilson's disease?
It is a rare inherited condition causing toxic copper build-up in the liver, brain and other organs due to a defect in the body's copper elimination process.
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What causes Wilson's disease?
It's caused by mutations in the ATP7B gene, which normally helps the liver excrete excess copper into bile for elimination; without this function, copper accumulates progressively.
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What are the symptoms of Wilson's disease?
Liver-related symptoms (such as jaundice or fatigue), neurological symptoms (tremor, clumsiness, or speech difficulty), and psychiatric symptoms (mood changes) can occur, with the specific pattern varying between individuals.
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Is Wilson's disease dangerous?
Yes, untreated it can progress to serious liver failure or significant neurological damage, but early diagnosis and lifelong treatment allow most people to live well.
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Is Wilson's disease hereditary?
Yes, it's inherited in an autosomal recessive pattern, meaning both parents carry a copy of an altered gene, even without symptoms themselves.
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Can Wilson's disease be treated?
Yes, lifelong medication to remove excess copper or reduce its absorption, along with dietary modifications, is highly effective, especially when started before significant organ damage has occurred.
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How is Wilson's disease treated?
Treatment includes copper-chelating medications or zinc therapy, along with avoiding high-copper foods; liver transplant is reserved for severe, advanced liver disease.
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How is Wilson's disease diagnosed?
Diagnosis typically involves blood and urine tests measuring copper and a specific protein (ceruloplasmin), an eye examination for characteristic copper deposits, and sometimes genetic testing or liver biopsy.
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When should I see a specialist, and how quickly can I be seen privately?
See a hepatologist or neurologist for suspected Wilson's disease. NHS specialist referral can take time; private specialists can often see you within about two weeks.