Wilson's disease

Question 1

What is Wilson’s disease?

Answer 1

Wilson’s disease is an autosomal-recessive disease of copper accumulation and copper toxicity caused by mutations in the ATP7B gene, which is part of the biliary excretion of copper pathway.

Question 2

What are the risk factors of Wilson’s disease?

Answer 2

> ATP7B mutation

> Non- veg diet

Question 3

What are the signs and symptoms of Wilson’s disease?

Answer 3

> history of hepatitis
> history of behavioural abnormalities
> tremor
> dysarthria
> dystonia
> incoordination
> sloppy or small handwriting
> dysdiadochokinesis
> abnormal extraocular movements
> normal sensation, muscular strength, and reflexes
> Liver signs (e.g. jaundice, gynaecomastia)

Question 4

What is the epidemiology of Wilson’s disease?

Answer 4

The worldwide incidence of Wilson’s disease is in the order of 30 cases per million

Question 5

What investigations are important for Wilson’s disease?

Answer 5

> LFTs (abnormal)
FBC (leucopenia/ thrombocytopenia)
24hr urine copper
blood free copper