Wilson's Disease

Question 1

What is Wilson’s Disease?

Answer 1

Excess accumulation of copper in the body

Question 2

What causes Wilson’s Disease?

Answer 2

• Mutation in the “Wilson disease protein” on chromosome 13 - Protein is responsible for removing copper in the liver

Question 3

What is the Wilson disease protein called?

Answer 3

ATP7B copper-binding protein

Question 4

What is the inheritance pattern of Wilson’s Disease?

Answer 4

Autosomal recessive

Question 5

What features may Wilson’s Disease have?

Answer 5

• Hepatic problems (40%) - Neurological problems (50%) - Psych problems (10%)

Question 6

Why do hepatic problems occur in Wilson’s disease?

Answer 6

Chronic hepatitis

Question 7

What neurological symptoms occur in Wilson’s Disease?

Answer 7

• Dysathria (speech difficulty) - Poor concentration - Coordination difficulty

Question 8

What psychological symptoms occur in Wilson’s disease?

Answer 8

Anywhere from mild depression to psychosis

Question 9

What sign may be seen in the eyes?

Answer 9

Question 10

How are Kayser-Fleischer rings properly examined?

Answer 10

Slit-lamp examination

Question 11

What are the other physical manifestations of Wilson’s disease?

Answer 11

• Haemoytic anaemia
• Renal tubular acidosis
• Osteopenia (loss of BMD)

Question 12

What blood tests are useful to diagnose Wilson’s disease?

Answer 12

Serum Caeruloplasmin and copper

(Low=Wilson’s Disease)

Question 13

What is the gold standard test for Wilson’s Disease?

Answer 13

Liver biopsy, showing accumulation

Question 14

How is Wilson’s Disease managed?

Answer 14

Copper Chelation:

• Penicillamine
• Trientene