type 2A hyperlipidaemia

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Type 2A hyperlipidaemia is a hypercholesterolaemic syndrome characterised by:

  • autosomal dominant inheritance
  • gene frequency 1/500
  • high LDL levels
  • deficiency in LDL receptors
  • presentation is with early onset ischaemic heart disease
  • untreated life expectancy is 20 years

Last reviewed 01/2018

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