Wilson's Disease Flashcards
What is Wilson’s Disease?
Excessive accumulation of copper in the body and tissues
What is Wilson’s disease due to?
Mutation in the Wilson’s disease protein on chromosome 13
(ATP7B gene)
What type of inheritance is Wilson’s Disease?
Autosomal recessive
What are the features of Wilson’s disease?
Copper deposition in the liver
Copper deposition in the CNS
What does copper deposition in the liver result in?
Chronic Hepatitis
Liver cirrhosis
What does copper deposition in the CNS cause?
Neurological and psychiatric problems
How does Wilson’s disease present neurologically?
Concentration and co-ordination difficulties
How does Wilson’s disease present psychologically?
Mild depression to full psychosis
What would you see in the eyes of someone with Wilson’s disease?
Kayser-Fleischer rings in cornea
What are the other possible presentations of Wilson’s disease?
Haemolytic anaemia
Osteopenia
Renal Tubular acidosis
Blue nails
What is the gold standard for the diagnosis of Wilson’s disease?
Liver Biopsy for liver content
What would be low in someone with Wilson’s disease?
Low Serum Ceruloplasmin
What is Ceruloplasmin?
The protein that carries copper in the blood
What is the management of Wilson’s disease?
Copper chelation
How is copper chelation achieved?
Penicillamine
Trientene
What are kayser-fleisher rings?
Green-brown rings in the periphery of the iris
What neurological manifestations can Wilson’s disease present with?
Asterixis
Chorea
Dementia
Parkinsonism
How is the urine affeted in someone with Wilson’s disease?
Increased 24hr urinary copper excretion
How is the diagnosis of Wilson’s confirmed?
Genetic analysis of the ATP7B gene
What can be used to see kayser-fleisher rings?
Slit lamp examination
