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.
Key red flags
New tremor, dystonia, dysarthria, drooling, parkinsonism, incoordination or handwriting change develops alongside subtle liver abnormality or psychiatric change.
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.
Key medicines
D-penicillamineA Wilson specialist selects and gradually titrates the product-specific BNF or SmPC regimen to achieve negative copper balance, then reduces to the minimum effective maintenance dose; administration is separated from food and relevant supplements.
Trientine tetrahydrochloride, CupriorFor adults intolerant to D-penicillamine, the current SmPC recommends 450–975 mg daily in two to four divided doses, starting at the lower end and adjusting to response under a Wilson specialist.