Write about Wilson's Disease here.

• Rare inherited disorder with toxic accumulation of Copper in liver and CNS (Especially basal ganglia)

• Treatable -> screen all young patients with cirrhosis

Genetics:

• Autosomal recessive (Chr 13, codes for ATP7B copper transport ATPase)

Signs:

• Kids present with liver disease

• Young adults often start with CNS signs

• tremor, dysarthria, dysphagia, dyskinesia, dystonias, purposeless stereotyped movements (e.g. hand clapping), dementia, parkinsonism, micrographia, ataxia/clumsiness

• Affective features

• Cognitive/behavioural changes

• Psychosis

• Kayser-Fleischer Rings

Tests:

• Serum Copper and Caeruloplasmin usually REDUCED

• 24 hr urinary copper excretion RAISED (>100 microg/24 hr - normal = < 40)

• Liver biopsy => raised hepatic copper content

• MRI - basal ganglia degeneration

Management:

• Chelation: Lifelong penicillamine (500 mg /6-8 hr for 1 yr, maintenance = 0.75 - 1 g /day)

Trientine dihydrochloride 600 mg / 8-12 hr PO (alternative)

• Liver transplant

• Screen siblings (as asymptomatic homozygotes need treatment)

Prognosis:

• Pre-cirrhotic liver disease is REVERSIBLE

• Neurological damage is less so

• Death occurs from liver failure, variceal haemorrhage or infection