Wilson's disease

Question 1

What is Wilson’s disease

Answer 1

Hepatolenticular degeneration due to inherited copper excretion disorder
Excess deposition in liver + basal ganglia

Question 2

Wilson’s disease genetics

Answer 2

Autosomal recessive, affects ATP7B (copper transporting ATPase)

Question 3

Copper excretion in Wilson’s

Answer 3

Normally incorporated into caeruloplasmin in liver but impaired in Wilson’s so it accumulates in hepatocytes

Question 4

Wilson’s disease presentation

Answer 4

Children present with liver disease (hepatitis, cirrhosis)
Young adults present with CNS signs: tremor, dysphagia, dystonia, dyskinesia
All pts with neuro Wilson’s presentation will have KF rings under slit lamp examination

Question 5

Wilson’s disease general signs

Answer 5

Kayser-Fleischer rings
Haemolysis
Blue nails
Arthritis

Question 6

Wilson’s disease tests

Answer 6

Urine 24h copper excretion is high >100µg/24h when normally 40µg
Serum copper <11µmol/L
Serum caeruloplasmin low (<200mg/L) with normal protein values
Liver biopsy shows inc copper
MRI shows degeneration in basal ganglia

Question 7

Wilson’s disease management

Answer 7

Avoid foods with high copper
Lifelong penicillamine 500mg/6-8h PO for 1 year, reduce to 1g/d after
Liver transplantation if severe liver disease

Question 8

Wilson’s disease prognosis

Answer 8

Pre-cirrhotic liver damage is reversible, CNS damage less so