Wilson's disease

Question 1

Wilson’s disease definition

Answer 1

autosomal recessive disorder of excess copper deposition

Question 2

Wilson’s disease risk factors

Answer 2

• ATP7B gene mutation
• family history

Question 3

Wilson’s disease pathophysiology

Answer 3

• ATP7B encodes an ATPase for trans- membrane copper transport in hepatocytes
• copper cannot be transported in bile or excreted in faeces
• copper accumulation exceeds liver storage capacity
• accumulates in blood and tissue

Question 4

Wilson’s disease signs and symptoms

Answer 4

• onset at 10-25 - liver disease in children, psychiatric in adults
• liver hepatitis and cirrhosis
• basal ganglia degeneration
• speech, behaviour and psychiatric problems
• asterixis, chorea, dementia, Parkinsonism
• Kaiser-Fleischer rings
• renal tubular acidosis
• haemolysis
• blue nails

Question 5

Wilson’s disease investigations

Answer 5

• slit lamp for eyes
• decreased serum caeruloplasmin
• decreased serum copper
• increased urinary copper excretion
• genetic analysis to confirm diagnosis

Question 6

Wilson’s disease management

Answer 6

• penicillamine to chelate copper
  -2nd line - trientine hydrochloride
• new - tetrathiomolybdate