Feature Article

Familial hypercholesterolaemia – Part 1: An unmet need in the management of a lipid disorder

John R Burnett, Gerald Watts



Of the estimated 40,000 cases of familial hypercholesterolaemia in Australia, roughly 80% remain undetected. The underdiagnosis of this condition is a universal problem.

Key Points

  • Familial hypercholesterolaemia (FH) is an autosomal co-dominant disorder of lipoprotein metabolism caused by mutations in the low density lipoprotein receptor gene. It leads to premature coronary heart disease (CHD).
  • Most people with FH are undiagnosed or diagnosed only after their first coronary event.
  • Primary clinical diagnostic criteria for FH are hypercholesterolaemia, presence of tendon xanthomas in the patient or first degree relative, and dominant pattern of inheritance of premature CHD or hypercholesterolaemia.
  • Patients with FH should be reviewed six monthly, and the physician should search actively for symptoms of cardiovascular disease.
  • In patients with FH, additional atherogenic risk factors of environmental, metabolic and genetic origin can modulate the clinical severity of the condition.