Wilson's disease

Question 1

What is Wilson disease?

Answer 1

Rare inherited disorder of copper excretion which leads to excess deposition in the liver and CNS

Question 2

What is the pattern of inheritance in Wilson’s disease?

Answer 2

Autosomal recessive

Question 3

1) What does copper deposition in the liver cause?
2) Name a neurological symptom that can be caused by copper deposition in the CNS
3) Name a psychological symptom that can be caused by copper deposition in the CNS
4) What can copper deposition in the basal ganglia cause, and name 2 of these symptoms?
5) Are motor symptoms symmetrical or asymmetrical in Wilson’s?
6) Wilson’s can cause the formation of Kayser-Fleischer rings - what are these?
7) Name 2 other features of Wilson’s disease

Answer 3

1) Chronic hepatitis and eventually liver cirrhosis
2) Dysarthria, dystonia, dyskinesia, ataxia
3) Psychosis, depression
4) Parkinsonism - tremor, bradykinesia and rigidity
5) Asymmetrical
6) Brownish circles surrounding the iris
8) Haemolytic anaemia, renal tubular damage leading to renal tubular acidosis, osteopenia

Question 4

1) What is the initial investigation of choice for the diagnosis of Wilson’s disease?
2) Does a value higher or lower than normal indicate Wilson’s?
3) What is the definitive gold standard for the diagnosis of Wilson’s?

Answer 4

1) Serum ceruloplasmin
2) Lower
3) Liver biopsy for liver copper content

Question 5

How is Wilson’s disease managed, and give an example of one of these drugs

Answer 5

1) Copper chelating agents i.e. penicillamine
and trientene