Wilson's Disease Flashcards
What is Wilson’s disease?
It is defined as a genetic condition in which there is excessive copper deposition in tissues
What is the inheritance of Wilson’s disease?
Autosomal recessive
Which genetic mutation is associated with Wilson’s disease?
ATP7B
Which chromosome is the ATP7B gene located on?
Chromosome 13
What is the function of the ATP7B gene?
To remove excess copper from the liver
In which region of the body is copper mainly deposited in Wilson’s disease?
Basal ganglia - particularly in the putamen and globus pallidus
At what age group does Wilson’s disease tend to present?
10 - 25 years old
What are the twelve clinical features associated with Wilson’s disease?
Chronic Hepatitis
Liver Cirrhosis
Jaundice
Parkinsonism
Dysarthria
Asterixis
Chorea
Kayser-Fleischer Rings
Haemolytic Anaemia
Renal Tubular Acidosis
Osteopenia
Blue Nails
In exams, how does Wilson’s disease usually present?
It usually presents with a mixture of hepatic and neurological features
What five investigations are used to diagnose Wilson’s disease?
Slit Lamp Examination
Blood Tests
Urinalysis
Liver Biopsy
Genetic Testing
What is the feature of Wilson’s disease on slit lamp examination?
Kayser-Fleisher rings
What are Kayser-Fleisher rings?
They are depositions of excess copper in the Descemet’s corneal membrane
How do Kayser-Fleisher rings appear on slit lamp examination?
Brownish circles in the iris
What three blood test results indicate Wilson’s disease?
Decreased Serum Caeruloplasmin Levels
Decreased Total Serum Copper Levels
Increased Free Serum Copper Levels
What is the first line investigation for Wilson’s disease?
Serum caeruloplasmin
