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.
- Low caeruloplasmin supports the diagnosis but is not definitive: values can be reduced by other liver or protein-losing states and can be misleadingly normal during inflammation or some presentations.
- Use convergent evidence—clinical features, caeruloplasmin, 24-hour urinary copper, slit lamp, ATP7B variants and sometimes hepatic copper—with the specialist Leipzig framework.
- Total serum copper may be low because caeruloplasmin-bound copper falls even while harmful non-caeruloplasmin copper is increased; a simple total result should not be interpreted intuitively.
- Symptomatic disease requires lifelong treatment, usually a chelator such as penicillamine or trientine; zinc is not a simple first-line substitute for significant symptomatic liver disease.
- Neurological symptoms can transiently worsen when chelation begins, so experienced services use careful selection, low starting exposure and close early monitoring.
- Screen siblings and relevant relatives through specialist biochemical and genomic pathways, because treatment before symptoms can prevent organ injury.
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.
Acute Coombs-negative intravascular haemolysis, especially with jaundice and liver dysfunction, can reflect abrupt copper release and should trigger urgent specialist assessment.
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.
- 3. Arrange ATP7B testing and MRI or liver copper assessment through the specialist team when the initial pattern is incomplete or confirmation is needed.
- 4. Integrate findings with a validated specialist score and revisit mimics such as autoimmune hepatitis, other cholestatic disease and alternative movement disorders.
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.Early neurological worsening can occur. Monitor rash, fever, cytopenia, proteinuria, renal and autoimmune toxicity; give pyridoxine when prescribed and never stop suddenly without a replacement plan.
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.Trientine formulations are not dose-equivalent. Monitor copper balance, iron status, liver response and neurological change; under-treatment from missed doses or incorrect administration can permit renewed organ injury.