Synopsis
Recognise Wilson disease across hepatic, neurological, psychiatric and haemolytic presentations, combine copper studies and ATP7B testing rather than relying on one result, and preserve organ function through lifelong specialist decoppering treatment.
- Wilson disease is an autosomal recessive ATP7B disorder that impairs biliary copper excretion, causing toxic accumulation in liver, brain, cornea and other tissues; it is treatable but delays can create irreversible disability.
- Think of it in children and younger adults with unexplained liver disease, progressive dystonia, tremor, dysarthria, parkinsonism, behavioural change or Coombs-negative haemolytic anaemia.
- Kayser–Fleischer rings are best sought by experienced slit-lamp examination and are common in neurological disease, but their absence does not exclude a hepatic presentation.
Key red flags
Unexplained steatosis, hepatitis, cirrhosis, portal hypertension or acute liver failure in a child or younger adult should keep Wilson disease active even without neurological signs or corneal rings.
Investigation priorities
Provide accessible biochemical evidence of disordered copper handling.
Management branches
A young person has unexplained hepatic, movement, psychiatric or haemolytic features.
- 1. Assess liver severity and neurological state immediately, escalating coagulopathy, encephalopathy or haemolysis to hepatology and a transplant centre.
- 2. Obtain caeruloplasmin, copper studies, quality-controlled 24-hour urine, liver and haemolysis tests and experienced slit-lamp examination without relying on one answer.
Key medicines
D-penicillamineSpecialist treatment is introduced at a low divided dose and titrated gradually to the current weight- and phenotype-appropriate chelation regimen, usually taken away from food with precise local instructions.
TrientineUse a specialist-selected salt and total daily dose in two to four divided administrations on an empty stomach, separated from food, minerals and other medicines as the product information specifies.