Wilson's Disease

Question 1

Cause?

Answer 1

• Mutation of ATP7B-copper binding protein

- chromosome 13

Question 2

Genetics?

Answer 2

Autosomal recessive

Question 3

Function of Wilson’s protein?

Answer 3

Removes excess copper from liver

Question 4

Combination of which problems leads us to suspect Wilson’s disease?

Answer 4

(1) hepatic problems - 40%
(2) neurological problems - 50%
(3) psychiatric problems - 10%

Question 5

Copper deposition in the liver leads to what?

Answer 5

chronic hepatitis –> cirrhosis

Question 6

Neurological symptoms?

Answer 6

• concentration/co-ord difficulties
• dysarthria
• dystonia
• parkinsonism (basal ganglia deposition)

Question 7

How does parkinsonism in Wilson’s disease differentiate from Parkinsons disease?

Answer 7

symptoms (bradykinesia, tremor, rigidity) are SYMMETRICAL in Wilson’s

Question 8

Psychiatric symptoms?

Answer 8

Depression, psychosis

Question 9

Sign in the cornea? Investigation?

Answer 9

Kayser-Fleischer rings –> slit lamp examination

Question 10

Other features?

Answer 10

• osteopenia
• haemolytic anaemia
• renal tubular acidosis

Question 11

Initial investigation?

Answer 11

Serum caeruloplasmin

Question 12

Definitive gold standard test for diagnosis?

Answer 12

Liver biopsy OR 24-urine copper assay if sufficiently elevated

Question 13

Management? (2)

Answer 13

• Penicilliamine

- Trientene