heterozygous familial hypercholesterolaemia

Last reviewed 04/2021

This affects 1 in 500 of the population.

Heterozygotes may have premature corneal arcus and usually marked elevation in blood cholesterol levels.

  • people with heterozygous familial hypercholesterolaemia have a fourfold increased risk of CHD
  • coronary heart disease begins in the 3rd decade
  • men are at greater risk than women and, if untreated, 50-75% will have a myocardial infarction by the age of 60 years

Reference:

Prodigy (2002). Hyperlipidaemia - guidance.