Thursday, 28 October 2010

MRCP revision battle 36.1: Wilson's disease

Another set of battles written before commencing the joy of a 10 hour shift... and to think we all used to think revising for finals was hard!

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

  • 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...