Wilson's Disease Flashcards
What is Wilson’s disease?
AR disorder characterised by excessive copper deposition in tissues
What gene is associated with Wilson’s?
(ATP7B) is on Chr13
What is the patho of wilson’s disease?
increased copper absorption from SI and decreased hepatic excretion of copper
What is the normal epid for Wilson’s?
onset between 10-25 years
What are the signs and symptoms of Wilson’s DIsease?
- Features arise due to copper deposition which is toxic to tissues
- Main organs involved: brain, liver and cornea
What are the neuro features of Wilson’s disease?
basal ganglia degeneration leads to Parkinsonism, behavioural, psychiatric and speech disturbances
What are the eye features of Wilson’s disease?
Kayser-Fleischer rings
What are the liver features of Wilson’s disease?
hepatitis and cirrhosis
What Ix are done for Wilson’s disease?
- Slit lamp examination of the eye
- Bloods
- Urinalysis
- Genetic testing / liver biopsy
What do bloods show in Wilson’s disease?
- LFTs
- reduced serum caeruloplasmin
- raised free copper
What does urinalysis show in Wilson’s?
increased 24hr urinary copper excretion
When will LFTs be raised?
- affected if there is hepatitis / cirrhosis of the liver 2. raised transaminases / bilirubin levels
What is caeruloplasmin?
copper transport protein which will be reduced
What will levels of free copper and total copper be in Wilson’s?
- raised levels of free copper in the blood
2. Total copper will be reduced because most copper is carried by caeruloplasmin in healthy people (which is low)
What is the management of Wilsons disease?
- Copper chelation with penicillamine (1st line)
2. Other options for chelation
