Wilson's Disease

Question 1

What is it?

Answer 1

Excessive accumulation of copper in the body and tissues

Question 2

Caused by?

Answer 2

Mutation in the Wilson’s disease protein on chromosome 12

Question 3

Present with?

Answer 3

Hepatic problems
Neurological problems
Psychiatric problems

Question 4

What can copper deposition in the liver lead to?

Answer 4

Chronic hepatitis

Liver cirrhosis

Question 5

Kayser-Fleischer rings in cornea?

Answer 5

Deposition of copper

Question 6

Features of wilsons disease?

Answer 6

Kayser- Fleischer rings
Haemolytic anaemia
Osteopenia

Question 7

Diagnosis?

Answer 7

Serum ceruloplasmin 
Liver biopsy (gold standard)
Low serum copper 
KF rings 
MRI brain

Question 8

Management of wilsons?

Answer 8

Penicillamine

Trientene