Gastro - Wilson's Disease Flashcards
What is Wilson’s disease?
Autosomal recessive genetic condition causing excessive accumulation of copper
What gene is affected in Wilson’s disease?
Wilson disease protein gene
Chromosome 13
(Also called the ATP7B copped-binding protein)
Copper-transporting protein usually removes excess copper via the liver
How is copper excreted?
In the bile
How does Wilson’s disease present?
Teenagers or young adults
Presenting features vary significantly
Usually liver problems first, can present with neurological or psychiatric problems first (usually more advanced disease)
What does copper deposition in the liver lead to?
Chronic hepatitis, eventually cirrhosis
What does copper deposition in the CNS lead to?
Tremor
Dysarthria
Dystonia
Abnormal behaviour
Depression
Cognitive impairment
Psychosis
(psychiatric and neurological symptoms)
What does copper deposition in the basal ganglia cause?
Parkinsonism
(tremor, bradykinesia and rigidity)
What are Kayser-Fleischer rings?
Deposition of copper in Descemet’s membrane
How is proper assessment of Kayser-Fleischer rings made?
Slit lamp exam
Overall what are the features of Wilson’s disease?
Liver disease
Psychiatric problems
Neurological problems
Haemolytic anaemia
Osteopenia
Renal tubular damage
How is Wilson’s disease diagnosed?
Serum caeruloplasmin initial screening test
Low serum ceruloplasmin is suggestive of Wilson’s disease, may be falsely normal or elevated in cancer or inflammatory conditions
24-hour urine copper assay
Will show high urinary copper
Liver biopsy
Assess copper content and liver disease
Scoring systems
What other investigations are used for Wilson’s disease?
Kayser-Fleischer rings on slit lamp
MRI brain- Double panda sign
Low HB with haemolytic anaemia (negative Coombs test)
Genetic testing
How is Wilson’s disease managed?
Treatment is with copper chelation using either:
- Penicillamine
- Trientine
Can also use:
- Zinc salts (inhibits copper absorption in GI tract)
- Liver transplantation
