Synopsis
Recognise hepatic and neuropsychiatric Wilson disease, combine imperfect copper tests and deliver lifelong specialist decoppering without losing an acute transplant window.
- Wilson disease is an autosomal recessive ATP7B disorder that impairs biliary copper excretion and copper incorporation into caeruloplasmin.
- Copper accumulates first in liver and later brain, cornea, kidney and other tissues, producing hepatic, neurological, psychiatric, ophthalmic and haemolytic phenotypes.
- Presentation is most common in younger people but an arbitrary age cut-off can miss later disease.
- No single result confirms or excludes Wilson disease: caeruloplasmin, slit-lamp examination, urinary copper, genetics and sometimes liver copper must be integrated.
- Caeruloplasmin can be normal during inflammation or pregnancy and low with other liver disease, malnutrition, protein loss or heterozygosity.
- Kayser-Fleischer rings are common in neurological disease but may be absent in isolated hepatic presentation and require an experienced slit-lamp examination.
- Acute Wilson liver failure may show severe Coombs-negative haemolysis and relatively low ALP against marked bilirubin; immediate transplant assessment takes precedence over a complete Leipzig score.
- D-penicillamine, trientine and zinc act differently and are not casually interchangeable; therapy is chosen and monitored by a specialist Wilson service.
- Neurological symptoms can worsen paradoxically when chelation begins, so dose escalation, swallowing and functional review must be planned.
- Treatment is lifelong, including in asymptomatic relatives; non-adherence can cause irreversible hepatic or neurological relapse.
Key red flags
New tremor, dystonia, dysarthria, drooling, parkinsonism, incoordination or handwriting change develops alongside subtle liver abnormality or psychiatric change.
Personality change, depression, impulsivity, falling educational performance or psychosis precedes obvious movement disorder and should prompt neurological and hepatic examination.
Rapid jaundice, coagulopathy, kidney injury and Coombs-negative intravascular haemolysis occur with a bilirubin rise disproportionate to alkaline phosphatase.
Rising liver tests, recurrent movement symptoms or urinary copper change can reflect non-adherence, inadequate control or excessive decoppering and requires specialist interpretation.
Investigation priorities
Provide one biochemical component of the diagnostic score.
Management branches
Unexplained liver disease or compatible movement and psychiatric features raise Wilson disease.
- Assess synthetic failure and haemolysis immediately and involve a transplant centre at once if coagulopathy or encephalopathy is present.
- Obtain caeruloplasmin, slit-lamp examination, timed urinary copper and ATP7B testing while excluding viral, autoimmune, drug and other metabolic causes.
- Use the Leipzig framework to expose concordant and discordant findings and involve a specialist Wilson service before concluding a borderline case.
- Arrange quantitative hepatic copper or further expert genetic interpretation when uncertainty remains and the result will change lifelong treatment.