MRCP revision battle 36.1: Wilson's disease
MRCP revision battle 36.2: Drugs causing impaired glucose tolerance
MRCP revision battle 36.3: Acromegaly
MRCP revision battle 36.4: Vitamin C
MRCP revision battle 36.5: Insulinoma
MRCP revision battle 36.6: Metabolic syndrome
MRCP revision battle 36.7: Phaeochromocytoma
MRCP revision battle 36.1: Wilson's disease
Wilson's disease is an autosomal recessive condition inherited on chromosome 13.
Approximately 1 in 400 people carry the gene, giving the disease an incidence of around 1 in 200 000
Wilson's disease is due to a mutation in the gene coding for a copper transporting ATPase, ATP7B. This results in the failure of biliary copper excretion, causing raised urinary copper and raised tissue copper with accumulation of copper especially in the liver and basal ganglia.
Features include:
- liver disease - hepatitis, cirrhosis
- CNS signs - tremor, ataxia, dementia, emotional lability
- hypoparathyroidism
- haemolysis
- Kayser-Fleischer rings - copper deposits in descemet's membrane - pathognomonic
- blue nails
- hypermobile joints
- arthritis
Diagnosis:
- low serum caeruloplasmin
- raised urinary copper
Treatment: penicillamine - remember this can cause low platelets and white cells so patients should be warned to report bruising/fever/sore throat to their doctor.
Note that the liver aspects of Wilson's tend to be reversible while the neuro problems have limited reversibility on treating.
Now on for a short battle about drugs causing impaired insulin tolerance...
