Wilson's disease

Question 1

What is Wilson’s disease

Answer 1

Excessive accumulation of copper in the body and tissues.

Question 2

What causes Wilson’s disease

Answer 2

Mutation in the Wilson’s disease protein on chromosome 13.

Question 3

Wilson’s disease presentation

Answer 3

Hepatic problems - copper deposition in liver leads to liver cirrhosis
Neurological and psychiatric problems due to copper deposition in CNS (often asymmetrical)
Kayser-Fleischer rings in cornea (deposition of copper in Descemet’s corneal membrane) - brownish circles surrounding the iris
Haemolytic anaemia
Renal tubular damage leading to renal tubular acidosis
Osteopenia (loss of bone mineral density)

Question 4

Neurological and psychiatric symptoms in Wilson’s disease

Answer 4

Neurological:
Concentration and coordination difficulties to dysarthria (speech difficulties) and dystonia (abnormal muscle tone).
Copper deposition in basal ganglia leads to Parkinsonism (tremor, bradykinesia and rigidity)
Psychiatric:
Mild depression to full psychosis

Question 5

Wilson’s disease investigations

Answer 5

Serum caeruloplasmin (protein that carries copper in blood) - low is suggestive of Wilson’s disease