Wilson's Disease

Question 1

What is Wilson’s disease?

Answer 1

• rare inherited disorder of copper excretion c excess deposition in liver and CNS

Question 2

What is the Wilson disease protein name and which chromosome is it on?

Answer 2

• ATP7B copper-binding protein
• Chromosome 13

Question 3

What is the genetic inheritance of Wilson disease?

Answer 3

• autosomal recessive

Question 4

How much copper do we ingest a day?

Answer 4

3mg/day

Question 5

How much copper does our body need a day?

Answer 5

0.5mg

Question 6

What is the Px of Wilson’s disease?

Answer 6

1. Defect in ATP7B
2. Cannot incorporate Cu into Ceruloplasmin or excrete Cu into bile
3. Cu builds in hepatocyte
4. Excess Cu causes free radicals build up - damage hepatocytes
5. Free Cu spill into interstitial space and enters blood supply, deposit in other tissues

Question 7

What are the features of Wilson disease?

Answer 7

• Hepatic problem (40%)
  
  • Hepatitis > cirrhosis
• Neurological problems (50%)
  
  • dystonia
  • dysarthria
  • parkinsonism
• Psychiatric problems (10%)
  
  • depression
  • psychosis

Question 9

What changes would you see in the eyes?

Explain it

Answer 9

• Kayser-Fleischer rings
• Deposition of copper in Descement’s corneal membrane

Question 10

What are the other features of Wilson disease?

Answer 10

• haemolytic anaemia
• renal tubular acidosis
• osteopenia

Question 11

How would you diagnose Wilson diseas?

Answer 11

• Low serum caeruloplasmin
• Liver biopsy - copper
• 24 hr urine copper assay
• Low serum copper <11umol/L

Question 12

How would you Mx WD?

Answer 12

• Diet
  
  • avoid liver, mushrooms, nuts, chocolate
• Drugs
  
  • Penicillamine
  • Trientene - copper chelating agent
• Liver transplant
• Screen siblings

Question 13

What are the Cx of WD?

Answer 13

• liver failure
• bleeding
• infection

Question 14

Is WD reversible or irreversible?

Answer 14

reversible