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
What urinalysis investigation is used to diagnose Wilson’s disease?
24 hour urine copper assay
What urinalysis result indicates Wilson’s disease?
Increased urinary copper excretion
What is the gold standard investigation used to diagnose Wilson’s disease?
Liver biopsy
What are the three features of Wilson’s disease on liver biopsy?
Mottled Fatty Liver
Hepatitis
Liver Cirrhosis
How is genetic testing used to diagnose Wilson’s disease?
It can be used to confirm the presence of an ATP7B gene mutation
What is the pharmacological management option for Wilson’s disease?
Copper Chelating Drugs
What is the mechanism of action of copper chelating drugs?
To remove copper from the body
Name two copper chelating drugs
Penicillamine
Trientene hydrocholoride
What is the first line copper chelating drug?
Penicillamine
What is the second line copper chelating drug?
Trientene hydrocholoride
What is a common complication of Wilson’s disease?
Psychosis
