Wilson's disease
Wilson's disease is a rare inherited condition in which copper accumulates in the body, primarily in the liver, brain and eyes. It is caused by a genetic mutation that impairs the liver's ability to excrete copper into bile.
If untreated, copper build-up can cause serious liver damage and neurological problems. Symptoms typically appear between the ages of 5 and 35 and may include jaundice, abdominal swelling, tremors, difficulty with speech and personality changes.
Diagnosis involves measuring blood copper and caeruloplasmin levels alongside 24-hour urinary copper excretion. A characteristic sign is the Kayser-Fleischer ring, a copper deposit visible in the eye during a slit-lamp examination.
With early diagnosis and lifelong treatment using copper-chelating agents, most people with Wilson's disease can lead healthy lives.
Causes of Wilson's disease
Wilson's disease is caused by inherited mutations in the ATP7B gene, which provides instructions for a protein involved in transporting copper out of liver cells into bile. When this protein does not function correctly, copper accumulates progressively in the liver and eventually overflows into the bloodstream, depositing in the brain, eyes, kidneys and other organs.
The condition follows an autosomal recessive inheritance pattern, meaning a person must inherit a faulty copy of the gene from both parents to develop the disease. Carriers (with one faulty copy) do not usually develop symptoms.
Wilson's disease affects approximately 1 in 30,000 people worldwide. Without treatment, copper accumulation causes progressive organ damage. Early diagnosis through blood testing for copper and caeruloplasmin allows treatment to begin before irreversible damage occurs.
Tests that can help check this condition
Learn more on the official NHS page .
