Wilsons disease Flashcards
What is Wilson’s disease?
Excessive accumulation of copper in the body and tissues
Caused by mutation in Wilson disease protein on chromosome 13
- This protein is responsible for removal of excessive copper in the liver
Genetic inheritance is autosomal recessive.
Presentation of Wilson’s disease
Hepatic problems (40%):
- Chronic hepatitis
- Eventually liver cirrhosis
Neurological problems (50%) - wide range of Sx
- Concentration problems
- Coordination difficulty
- Dysarthria
- Dystonia
- Parkinsonism if copper deposition in basal ganglia
- Motor Sx often asymmetrical
Psychiatric problems (10%)
- Depression
- Psychosis
Kayser-Fleischer rings in cornea - brown circle around iris - can be seen w naked eye but use slit lamp to confirm
Also:
- Haemolytic anaemia
- Renal tubular damage leading to renal tubular acidosis
- Osteopenia (loss of bone mineral density)
Investigations in suspected Wilson’s
Initial investigation is serum caeruloplasmin - low in Wilson’s (Protein that carries copper in blood)
Liver biopsy for liver copper content is the definitive gold standard test for diagnosis
Diagnosis can also be established if the 24-hour urine copper assay is sufficiently elevated.
Other investigations:
Low serum copper
Kayser-Fleischer rings
MRI brain shows nonspecific changes
General investigations for similar presentations:
- LFTs
- FBC, CRP, U&Es
- Iron studies
Management of Wilson’s disease
Treatment is with copper chelation using
Penicillamine - first line currently
Trientene - an alternative chelating agent
