Wilsons Disease

Question 1

Wilson’s disease is an autosomal recessive disorder characterised by excessive copper deposition in the tissues. What is the incidence of Wilsons disease?

1 - 0.10 cases per 100,000
2 - 10 cases per 100,000
3 - 100 cases per 100,000
4 - 1000 cases per 100,000

Answer 1

1 - 0.10 cases per 100,000

Affects men and women equally

Question 2

Wilson’s disease is an autosomal recessive disorder characterised by excessive copper deposition in the tissues. What age does the incidence of Wilsons disease typically peak?

1 - 1-5 years
2 - 10-20 years
3 - 20-30 years
4 - 40-50 years

Answer 2

3 - 20-30 years

Question 3

Wilsons disease is an autosomal recessive disorder caused by a defect in the ATP7B gene located on chromosome 13 that can be confirmed using a liver biopsy. This can result in which 2 of the following that lead to clinical presentations?

1 - increased copper absorption from the small intestine
2 - decreased hepatic copper excretion
3 - increased copper uptake in kidney
4 - increased copper deposits in the lungs

Answer 3

1 - increased copper absorption from the small intestine
2 - decreased hepatic copper excretion

Can lead to hepatitis and cirrhosis

Question 4

Wilsons disease can cause which of the following in the eyes?

1 - acute angle glaucoma
2 - scleral icterus
3 - kayser-fleischer rings
4 - arcus senilis

Answer 4

3 - kayser-fleischer rings

Brown/yellow rings around the eyes

Question 5

Wilsons disease can cause all of the following neurological impairments, EXCEPT which one?

1 - basal ganglia degeneration/ dystonia
2 - speech changes
3 - behavioural and psychiatric
4 - asterixis, chorea, parkinsonism
5 - dementia
6 - vision loss
6 - tremor

Answer 5

6 - vision loss

Behavioural and psychiatric problems are often the first manifestations

Question 6

Wilsons disease can cause what in the kidneys?

1 - glomerularnephritis
2 - tubular acidosis
3 - AKI
4 - pyelonephritis

Answer 6

2 - tubular acidosis

Question 7

Wilsons disease can cause which of the following?

1 - haemolysis
2 - leukocytosis
3 - pancytopenia
4 - all of the above

Answer 7

4 - all of the above

Can lead to blue nails

Question 8

Which protein is responsible for transporting copper in the plasma?

1 - haem
2 - iron
3 - ceruloplasmin
4 - transferrin

Answer 8

3 - ceruloplasmin

Question 9

Which of the following can be used to diagnosis wilsons disease (other than genetic testing?

1 - reduced serum caeruloplasmin
2 - reduced serum copper (counter-intuitive, but 95% of plasma copper is carried by ceruloplasmin)
3 - increased 24hr urinary copper excretion
4 - all of the above

Answer 9

• reduced serum copper is because 95% of plasma copper is carried by ceruloplasmin

Question 10

An MRI may be used to look at the brain in patients with suspected Wilsons disease and show high signal lesions. Which part of the brain are these most common?

1 - basal ganglia
2 - hippocampus
3 - occipital lobe
4 - cerebellum

Answer 10

1 - basal ganglia

Question 11

How is Wilsons disease treated?

1 - hemodialysis
2 - anti-virals
3 - penicillamine
4 - liver transplant

Answer 11

3 - penicillamine

Acts as a chelator of copper