Wilson's Disease

Question 1

what is it?

Answer 1

excess copper accumulation in body & tissues

Question 2

aetiology?

Answer 2

autosomal recessive mutation in Wilson Disease protein on chromosome 13

Question 3

Presentation?

Answer 3

• Hepatic
  
  • chronic hepatitis –> cirrhosis
• Neurological
  
  • incoordination
  • difficulty concentrating
  • dystonia
  • dysarthria
  • parkinsonism
• Psychiatric
  
  • mild depression–> psychosis
• Haematology
  
  • haemolytic anaemia
• Ophthalmology
  
  • kayser-fleischer rings (brown ring around iris)

Question 4

how is parkinsonism differentiated from actual parkinsons?

Answer 4

symptoms bilateral

Question 5

Ix?

Answer 5

1. serum caeruloplasmin (protein that binds copper in blood) - LOW
2. liver biopsy - GOLD STANDARD

• serum copper
• 24h urinary copper
• slit lamp examination

Question 6

Mx?

Answer 6

Copper chelation therapy:

• D-penicillamine
• Trientene