wilsons disease

Question 1

define wilsons disease?

Answer 1

an autosomal recessive disorder characterised by reduced biliary excretion of copper and accumulation of copper in the liver and brain and the cornea.

Question 2

what is the aetiology of wilsons disease?

Answer 2

• Mutation in a gene on chromosome 13 that codes for copper transporting ATPase in hepatocytes

• this prevents the production of caeruloplasmin
• caeruloplasmin is normally secreted into plasma or excreted in bile
• Excess copper damages the hepatocyte mitochondria, leading to cell death and release of free copper into the plasma
• this copper then gets deposited into the organs

Question 3

epidemiology of wilsons disease?

Answer 3

• Onset is between 10-25 years
• Liver disease usually presents in children
• Neurological disease usually presents in young adults

Question 4

what are the liver presenting symptoms of wilsons disease?

Answer 4

o	May present with: hepatitis, liver failure, cirrhosis  
o	Symptoms: 
•	Jaundice  
•	Easy bruising  
•	Variceal bleeding  
•	Encephalopathy

Question 5

what are the neuro presenting symptoms of wilsons disease?

Answer 5

due to basal ganglia degeneration. 
o	Clumsiness 
o	Speech problems  
o	Dementia 
o	Parkinsonism 
o	Asterixis

Question 6

what are the psychiatric presenting symptoms of wilsons disease?

Answer 6

o Conduct disorder
o Personality change
o Psychosis

Question 7

what are the signs of wilsons disease on physical examination?

Answer 7

•	Liver 
o	Hepatosplenomegaly  
o	Jaundice  
o	Ascites/oedema  
o	Gynaecomastia 
•	Eyes 
•	Eyes 
o	Kayser-Fleischer Rings  
•	Other 
o	Fanconi syndrome 
o	Haemolysis 
o	Blue nails

Question 8

what are Kayser-Fleischer Rings ?

Answer 8

green brown rings in the periphery of the iris

Question 9

what might the bloods show for wilsons disease?

Answer 9

o LFTs: high AST, ALT, ALP
o Low serum caeruloplasmin
o Reduced total serum copper

Question 10

what will the 24 hour urinary copper levels show?

Answer 10

increased levels of copper

Question 11

what will the liver biospy show?

Answer 11

increased levels of copper

Question 12

what is used to assess for keysel fleischer rings?

Answer 12

• Slit lamp examination