Wilsons disease Flashcards
1
Q
which chromosome is affected?
A
13
excess copper in tissues
2
Q
what is the inheritance pattern?
A
autosomal recessive
3
Q
what are the main types of problems people have?
A
Hepatic problems (40%)- copper deposition in liver leads to cirrhosis
Neurological problems (50%)- copper deposition in brain Psychiatric problems (10%)
4
Q
what types of neurological symptoms will someone have?
A
- dysarthria
- dystonia
- Parkinsonism- tremor, bradykinesia, rigidity
5
Q
apart from the main issues- hepatic problems, neurological and psychological what are other features of Wilson disease?
A
- Haemolytic anaemia
- Renal tubular damage leading to renal tubular acidosis
- Osteopenia (loss of bone mineral density)
6
Q
how can Wilsons be diagnosed?
A
bedside:
- kayser fleisher rings in eyes
bloods:
- low serum caeroplasmin
- low serum copper
imaging:
- MRI brain shows non specific changes
special tests:
- 24hr urine copper assay elevated
- liver biopsy is the gold standard of investigation
7
Q
management?
A
copper chelation
Penicillamine
Trientene
8
Q
what is the gold standard investigation?
A
liver biopsy
