Wilson's disease
A rare inherited disorder in which copper builds up harmfully in the liver and brain because the body cannot get rid of the excess. It usually appears in young people as liver disease or neurological and psychiatric symptoms — and, crucially, it is treatable, so recognising it matters.
What it is
Wilson's disease is an inherited condition in which a faulty gene stops the liver from excreting copper properly, so copper — which we all take in through food — gradually accumulates to toxic levels, first in the liver and then in the brain and other organs. It typically presents in children, teenagers or young adults, which is part of why it must be considered in young people with otherwise unexplained problems. It shows up in two main ways: as liver disease (ranging from raised liver enzymes found by chance, through hepatitis, to cirrhosis or, rarely, sudden liver failure), and as neurological and psychiatric symptoms (tremor, difficulty with speech or coordination, changes in behaviour, mood or personality). A characteristic sign is a coppery ring at the edge of the cornea (Kayser-Fleischer ring), seen on eye examination. It is diagnosed with a combination of tests — a low ceruloplasmin, copper studies in blood and urine, the eye examination, and genetics. Its importance is that, uncommon as it is, it is treatable with medication that removes copper or blocks its absorption — and untreated it is progressive and can be fatal.
Key lab markers
- Ceruloplasmin — the copper-carrying protein; characteristically low in Wilson's disease.
- Copper (serum and 24-hour urine) — the pattern (low ceruloplasmin, high free copper, high urine copper) supports the diagnosis.
- Liver enzymes (ALT, AST) and liver function (albumin, INR) — assess liver involvement.
- Eye examination (slit-lamp) — for Kayser-Fleischer rings.
- Genetic testing (ATP7B gene) — confirms the diagnosis and allows family screening.
- Liver biopsy — sometimes, to measure liver copper directly.
Symptoms
- Signs of liver disease — tiredness, jaundice, abdominal swelling, or raised liver enzymes found on tests
- Tremor, clumsiness, or difficulty with speech and swallowing
- Changes in behaviour, mood, personality, or school/work performance
- Difficulty with fine movements or walking
- A coppery-brown ring at the edge of the cornea (seen by a doctor)
- Onset usually in childhood to young adulthood
Related lab panels
When to discuss with a doctor
Wilson's disease should be actively considered in a young person (roughly under 40) with unexplained liver disease, or with new neurological symptoms like tremor and coordination problems or unexplained psychiatric or behavioural changes — this combination in a young person is the key trigger to test for it. Diagnosis brings together ceruloplasmin, copper studies, an eye examination and genetics, arranged by a specialist. It matters greatly because treatment — medication to remove copper or reduce its absorption, plus avoiding high-copper foods — can halt and even reverse the damage, whereas untreated it progresses and can cause liver failure. Family members are screened once someone is diagnosed. Mediora.AI can flag a low ceruloplasmin with abnormal liver enzymes that fits the picture; the diagnosis and treatment belong with hepatology or neurology.