Wilson's disease

Question 1

Define:

Answer 1

An autosomal recessive disorder which there is reduced biliary excretion of bile leading to build up in the liver and brain (especially the basal ganglia)

Question 2

Aetiology/risk factors:

Answer 2

There is a mutation in the ATP7B gene (this is a copper transporting ATPase) on chromosome 13.

There is absorption into the liver but not proper excretion as no incorporation into caeruloplasmin (excreted into bile and urine)

This leads to a build up in the liver causing the death of hepatocytes and copper leaking into the plasma.

Copper accumulates in tissue leading to damage.

Question 3

Epidemiology:

Answer 3

Presents as liver issues in children.

In older people presents as neurological issues.

Question 4

Symptoms:

Answer 4

Liver –> hepatitis, cirrhosis and liver failure.

• Jaundice
• easy bruising
• Variceal bleeding
• Encephalopathy

Neurological (this is similar to parkinson’s):

• Dyskinesia
• dystonia
• dementia
• ataxia
• dysphagia
• tremor
• rigidity

Psychiatric:

• personality changes
• conduct disorder
• psychosis

Question 5

Signs:

Answer 5

Liver:

• Hepatosplenomegaly
• Ascites
• Oedema
• gynaecomastia

Eyes:

• Kayser-Fleischer Rings – visible to naked eye in late stages, early stages seen by slit lamp
• Sunflower cataract (copper accumulation in the lens, seen with a slit lamp)

Question 6

Investigations:

Answer 6

LFTS - AST, ALP and ALT are all increased
Serum copper is increased
Serum caeruplasmin is decreased
24 hr urinary copper is increased
Liver biopsy - increased copper
MRI - degeneration of basal ganglia, fronto-temporal, cerebellar and brainstem
Genetic analysis