Wilson's disease

Question 1

What are the genetic changes in Wilson’s disease?

Answer 1

Autosomal recessive mutation of ATP7B gene on chromsome 13

Question 2

Put simply, what is Wilson’s disease?

Answer 2

Excess body copper

Question 3

What age does Wilson’s disease typically present?

Answer 3

Under 20 y/o
(Family history)

Question 4

In Wilson’s disease, what causes the accumulation of copper in the body?

Answer 4

Impaired copper biliary excretion

Question 5

What is copper normally bound to in the blood?

Answer 5

Ceruloplasmin

Question 6

Where does the excess copper in Wilson’s disease accumulate?

Answer 6

Liver
CNS (basal ganglia)

Question 7

What are symptoms of Wilson’s disease?

Answer 7

Hepatic: liver disease (eg jaundice)

Neurological = Parkinsonism, memory issues

Ophthalmological = Kayser fleischer rings (copper deposits in cornea, greenish-brown ringed appearance)

Question 8

How is Wilson’s disease diagnosed?

Answer 8

Low serum copper (more in tissue than bloodstream)
Low ceruloplasmin

Liver biopsy (gold standard): increased copper, hepatitis

MRI brain shows cerebellar and basal ganglia degeneration

Question 9

What is first line treatment for Wilson’s disease?

Answer 9

D-penicillamine (Cu chelation, lifelong)

Question 10

What advice is given to Wilson’s disease patients?

Answer 10

Change diet
Avoid high copper foods like shellfish and mushroom

Question 11

What is last resort treatment for Wilson’s disease?

Answer 11

Liver transplant consideration