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