Wilson disease: copper that the liver cannot remove
Rare, treatable, and easy to miss in young people
Dr. Camille Roux
Internal medicine physician
In simple terms
Liver and neurological signs, the diagnostic clues, and lifelong treatment.
What it is, in plain words
Wilson disease is an inherited disorder in which the liver cannot excrete copper into bile. Copper accumulates first in the liver, then spills into the blood and deposits in the brain, eyes and kidneys. It usually appears between the ages of 5 and 35 and is one of the few genetic diseases with highly effective treatment.
Signs to look out for
- Hepatitis, fatty liver or unexplained cirrhosis in a young person
- Tremor, clumsiness, slurred speech and difficulty writing
- Personality change, poor school or work performance, depression or psychosis
- A brown-green ring at the edge of the cornea, visible on eye examination
- Sudden severe liver failure with anaemia in the most acute presentation
Why it happens
It is autosomal recessive: both parents carry one altered ATP7B gene. Siblings of a patient have a one in four chance of being affected and must be screened even if perfectly well.
How doctors confirm it
Low serum caeruloplasmin, raised 24-hour urinary copper, Kayser-Fleischer rings on slit-lamp examination, and liver copper on biopsy build the diagnosis. Genetic testing confirms it and allows family screening.
Treatments and solutions
- Chelating agents such as penicillamine or trientine, which pull copper out of tissues and into the urine
- Zinc salts, which block copper absorption from the gut, used for maintenance and in presymptomatic patients
- A diet avoiding liver, shellfish, nuts, chocolate and mushrooms, especially in the first year
- Lifelong adherence, since stopping treatment can cause fatal liver failure within months
- Liver transplantation for fulminant liver failure or decompensated cirrhosis
Living with it day to day
Neurological symptoms may worsen briefly when chelation starts, which is expected and managed by dose adjustment rather than stopping. Regular monitoring of copper indices and blood counts is essential.
When to seek medical help
Seek urgent care for jaundice, confusion, vomiting blood, or rapid worsening of tremor and speech.
This article explains general health information in simple language. It does not replace advice from your own doctor.
The words explained
Medical terms used above, in everyday language.
- Acute
- Something that starts suddenly and lasts a short time.
- Symptom
- A sign you can feel or see that something is wrong, like pain, tiredness or a rash.
- Diagnosis
- The moment a doctor identifies which illness is causing your symptoms.
- Screening
- A check-up done before you feel ill, to catch a problem early.
- Genetic
- Passed down in your family through your genes.
When should you see a doctor?
- Your symptoms last more than a few weeks or keep coming back.
- They get worse quickly, or stop you doing everyday things.
- You notice sudden pain, breathing trouble, fainting or bleeding — seek urgent care.
- You already take medication and want to change anything about it.
This article explains general health information. It does not replace advice from your own doctor.
Frequently asked questions
- What is Wilson disease: copper that the liver cannot remove?
- Liver and neurological signs, the diagnostic clues, and lifelong treatment.
- What are the main symptoms or signs of Wilson disease: copper that the liver cannot remove?
- Common signs vary from person to person. The article above lists the symptoms to watch for, how they progress, and when they need medical attention.
- When should you see a doctor for Wilson disease: copper that the liver cannot remove?
- See a doctor if symptoms last more than a few weeks, get worse quickly, stop you doing everyday things, or if you notice sudden pain, breathing trouble, fainting or bleeding.
Related health topics
Blood & Hematology
Haemochromatosis: too much iron in the body
Why iron accumulates, the organs it damages, and how venesection prevents all of it.
Infectious Diseases
Hepatitis B: A Silent Infection Affecting 296 Million People
Chronic hepatitis B often progresses without symptoms for years before revealing serious liver damage. Screening is crucial.
Infectious Diseases
Hepatitis C: cure now possible
Screening, short-term DAA treatment: eliminating hepatitis C virus has become a reality.
Blood & Hematology
Thalassaemia: an inherited anaemia explained simply
Why thalassaemia causes lifelong anaemia, how minor and major forms differ, and what treatment involves.
Blood & Hematology
Haemophilia: when blood does not clot properly
What causes haemophilia A and B, why joints are the main target, and how prophylaxis prevents damage.
Digestive Health
Cirrhosis: scarring of the liver explained
The causes that still dominate, the complications to watch, and what can be reversed.