Wilson's Disease

Question 1

How is Wilson’s inherited?

Answer 1

Autosomal recessive

Question 2

Genetic mutation in Wilson’s

Answer 2

defect in the ATP7B gene

chromosome 13

Question 3

What does Wilson’s disease cause to deposit in tissues?

Answer 3

Copper

increased copper absorption from small intestine and decreased hepatic copper excretion

Question 4

When does Wilson’s usually present?

Answer 4

usually between 10 - 25 years.

Question 5

How do children tend to present with Wilson’s disease compared to young adults?

Answer 5

Children = liver disease

Young adults = neurological disease

Question 6

Clinical features of Wilson’s

Answer 6

liver signs - hepatitis, cirrhosis

neurological -
basal ganglia degeneration
=> speech, behavioural and psychiatric problems
=> May cause chorea, dementia, parkinsonism

Kayser-Fleischer rings
renal tubular acidosis
haemolysis
blue nails

Question 7

Investigations for Wilson’s disease

Answer 7

slit lamp for Kayser-Fleischer rings

Bloods:
- Low caeruloplasmin
- Low caeruloplasmin-bound copper
- High free copper

increased 24hr urinary copper excretion
genetic test for ATP7B gene

Question 8

Management of WIlson’s disease

Answer 8

penicillamine (chelates copper)

trientine hydrochloride (alternative)

tetrathiomolybdate (newer agent)