Wilson's Disease Flashcards
1
Q
What is Wilson’s disease?
A
Decreased biliary excretion of copper
Decreased copper incorporation into ceruloplasmin
2
Q
What are signs and symptoms of Wilson’s disease?
A
Kayser-Fleischer rings
CNS (flapping tremor, Parkinsonism, cerebellar findings, dystonia/psychiatric)
Low ceruloplasmin
High urinary copper
High liver enzymes
3
Q
How is Wilson’s disease diagnosed (gold standard)?
A
Liver biopsy showing increased copper stores
4
Q
What are the consequences of Wilson’s disease?
A
Acute hepatitis
low risk of HCC
5
Q
How is Wilson’s disease treated?
A
Chelation therapy to increase urinary excretion of copper
