Familial hypercholesterolaemia

external

• Synonyms

  • Type IIa hyperlipoproteinaemia
  • Type 2a hyperlipidaemia
  • FH

• Causes

  • Defective LDL receptor
  • Apolipoprotein B-100

• Effects

  • Hypercholesterolaemia
  • Tendon xanthoma
  • Xanthelasma
  • Tuberous xanthoma
  • Coronary artery disease

• Parents

  • Hyperlipidaemia
  • Autosomal dominant congenital metabolic disease

• Description

  • "Mediates inhibition of HMG-CoA reductase. Chromosome 19 400+ mutations in LDL receptor 1 in 500 affected 50% die before 60 due to IHD 8-fold risk of cardiovascular disease"