Dr Kola Tytler MBBS CertHE MBA MRCGPClinical Lead • iatroX
Key clinical features to consider when suspecting Wilson's disease in a young patient include:
- Neurological symptoms: These often present as movement disorders such as tremor, dystonia, dysarthria, and parkinsonism, typically emerging in adolescence or early adulthood.
- Psychiatric manifestations: Mood disturbances, behavioural changes, cognitive decline, and psychosis can be early or prominent features.
- Hepatic involvement: Signs range from asymptomatic liver enzyme abnormalities to acute hepatitis, chronic liver disease, or fulminant hepatic failure, often in younger patients.
- Ophthalmological signs: The presence of Kayser-Fleischer rings—brownish or greenish rings at the corneal margin—is a hallmark and important diagnostic clue.
- Haematological and renal features: Less commonly, haemolytic anaemia and renal tubular dysfunction may be present.
- Family history: A positive family history of Wilson's disease or unexplained liver or neurological disease in relatives supports suspicion.
These features reflect the multisystem nature of Wilson's disease and should prompt further biochemical and genetic testing to confirm diagnosis and initiate treatment promptly NICE CG100 Ferenci 2004Rosencrantz 2011European Association for the Study of the Liver 2025.
Key References
- CG100 - Alcohol-use disorders: diagnosis and management of physical complications
- CG71 - Familial hypercholesterolaemia: identification and management
- (Ferenci, 2004): Pathophysiology and clinical features of Wilson disease.
- (Rosencrantz and Schilsky, 2011): Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment.
- (European Association for the Study of the Liver, 2025): EASL-ERN Clinical Practice Guidelines on Wilson's disease.