Wilson’s disease is a rare inherited disorder in which the body cannot properly eliminate copper. Copper accumulates – mainly in the liver, brain, and eyes – causing progressive damage if left untreated. It’s rare (affecting roughly 1 in 30,000 people), but it’s worth knowing about for one specific reason: it’s completely treatable, and untreated cases can be devastating.
What Goes Wrong
Wilson’s disease is caused by mutations in the ATP7B gene, which codes for a protein essential to copper excretion through bile. Without it, copper builds up in the liver first, then spills into the bloodstream and deposits in other organs. It’s autosomal recessive – a person must inherit a faulty copy of the gene from both parents to develop the disease.
When Does It Present?
Wilson’s disease typically becomes symptomatic between ages 5 and 35. Liver disease usually appears in childhood or adolescence. Neurological and psychiatric symptoms tend to appear in young adults – often after the liver has been harboring copper silently for years.
Symptoms
Liver-related: Chronic hepatitis or elevated liver enzymes (often found incidentally), fatty liver, cirrhosis, or acute liver failure – sometimes the first dramatic presentation, particularly in adolescent girls.
Neurological: Tremors (classically ‘wing-beating’ tremors of the arms), dysarthria (slurred speech), difficulty swallowing, coordination problems, ataxia, and dystonia.
Psychiatric: Personality changes, irritability, depression, anxiety, or rarely psychosis.
Eyes: Kayser-Fleischer (KF) rings – golden-brown rings at the periphery of the cornea, visible on slit-lamp examination. Present in virtually all patients with neurological Wilson’s disease.
Diagnosis
- Serum ceruloplasmin – low in most patients (but can be normal in 5–15%)
- 24-hour urine copper – elevated; the most reliable test
- Slit-lamp examination – for Kayser-Fleischer rings
- Liver biopsy with copper quantification – gold standard when diagnosis is uncertain
- Genetic testing – confirms diagnosis and allows sibling screening
Siblings of diagnosed patients should always be screened. Wilson’s disease in a sibling is a 1-in-4 probability.
Treatment
- D-penicillamine – effective but can worsen neurological symptoms initially; significant long-term side effects
- Trientine – better tolerated; now preferred by many specialists
- Zinc salts – blocks intestinal copper absorption; safe for long-term maintenance
Treatment is lifelong. Stopping medication – even after years of stability – leads to rapid copper re-accumulation and can trigger acute liver failure. Liver transplantation is reserved for acute liver failure or end-stage cirrhosis unresponsive to medical treatment.
