Wilson's disease

Question 1

What is Wilson’s disease?

Answer 1

Excessive copper deposition in the tissue -e.g. liver and brain.

An autosomal recessive disorder.

Mutation in the ATP7B gene.

Impaired copper metabolism -e.g increased copper absorption from the small intestine and decreased hepatic copper excretion.

Question 2

Causes of Wilson’s disease?

Answer 2

Mutation in the ATP7B gene.

ATP7B -encodes a protein vital for copper transportation and elimination in the body.

Results in impaired copper metabolism -e.g increased copper absorption from the small intestine and decreased hepatic copper excretion.

Question 3

Symptoms and signs of Wilson’s disease?

Answer 3

Liver:
hepatitis
cirrhosis
Coomb’s negative haemolytic anaemia -haemolysis and jaundice

Neuro:
drooling
spasticity (abnormal muscle tightness due to prolonged muscle contraction)
chorea (involuntary irregular movement)
athetosis
myoclonus (involuntary twitching or jerking of a muscle)
micrographia (abnormal small handwriting)
dyslalia (can’t articulate speech)
hypomimia (masked face)
dysarthria (difficulty speaking)

Pysch:
decreased academic performance
personality changes
sexual exhibitionism
impulsiveness
labile mood
inappropriate behaviour
depression
paranoia
schizophrenia

Eyes:
Kayser-Fleischer ring (green-brown rings of the iris -due to copper accumulation in Descemet membrane)
sunflower cataracts

Question 4

IVx for Wilson’s disease?

Answer 4

1st line: serum caeruloplasmin (reduced)

24h urine collection -measure urinary copper excretion (high)

GOLD STANDARD -Genetic analysis of the ATP7B gene

MRI brain – may show basal ganglia degeneration

Liver biopsy – increased hepatic copper

Question 5

Management of Wilson’s disease?

Answer 5

Avoid copper food -chocolate, nuts

1st line: penicillamine (chelates copper) or trientine hydrochloride

Zinc salts: promoting a negative copper balance and reducing free plasmatic copper.