Wilson's Disease

Question 1

Pathology

Answer 1

Wilson’s disease (Otherwise known as hepatolenticular degeneration), is a disease of copper storage. Failure to excrete copper results in very high levels in the liver and brain. In the brain there is degeneration of the lenticular nucleus (putamen and globus pallidus).

Question 2

Genetic

Answer 2

The condition demonstrates autosomal recessive inheritance. The central problem is a mutation in the Wilson disease protein (ATP7B) gene. This gene codes for an enzyme that transports copper into the bile and incorporates it into ceruloplasmin.

Question 3

Signs and symptoms

Answer 3

The majority (90-95%) of patients exhibit low levels of both ceruloplasmin and total serum copper.

The condition presents with movement disorders such as dystonia, parkinsonian tremor, and rigidity combined with behavioural problems and a degree of dementia is often seen. A Kayser-Fleischer ring is the term given to the brown ring seen around the iris in people with Wilson’s disease.