What is Familial Hypercholesterolaemia (FH)?

FH puzzle
  • Familial Hypercholesterolaemia (FH) is a disorder of cholesterol metabolism.
  • FH has an autosomal dominant mode of inheritance and is the most common and serious genetic disorder of lipid metabolism resulting in severe elevations of blood cholesterol levels.
  • Hypercholesterolaemia is present from birth and causes early coronary heart disease (CHD) due to atherosclerosis.
  • FH is caused by mutations in the gene for the receptor for low density lipoprotein (LDL) which controls blood cholesterol levels.
  • Heterozygous FH (HeFH) occurs in approximately 1 in 300 – 500 individuals.
  • Prevalence may be higher in Afrikaners (1 in 100), Christian Lebanese (1 in 85), South African Ashkenazi Jews (1 in 67), Tunisian (1 in 165) and French Canadian (1 in 270) populations owing to founder effect.
  • Homozygous FH (HoFH) occurs in approximately 1 in a 1,000,000 individuals but may be as frequent as 1 in 160,000 – 300,000 individuals.
  • Patients with HoFH and severe HeFH (mimics HoFH) have markedly elevated circulating levels of LDL cholesterol (untreated LDL cholesterol >13 mmol/L or treated LDL cholesterol ≥ 8 mmol/L) and accelerated premature atherosclerotic cardiovascular disease (ACVD).
  • HoFH is rare and life-threatening. These patients need urgent:
    • referral for specialist care
    • initiation of diet and cholesterol-lowering drug therapy.




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