Familial hypercholesterolaemia (FH) is characterized by severely elevated plasma levels of low density lipoprotein cholesterol (LDL-C) from birth that cause atherosclerotic plaque deposition in arteries and a markedly increased risk of coronary artery disease at an early age. Persons with untreated FH are at an approximately 20-fold increased risk for coronary heart disease and untreated men are at a 50% risk for a fatal or non-fatal coronary event by age 50 years . FH is relatively common (prevalence 1:250) . Pathogenic variants in 3 genes (LDLR, APOB and PCSK9) have been shown to underlie FH and the genetic cause is a determinant of the outcome. It has been estimated that about 95% of patients with FH carry a pathogenic variant in one of these genes, with mutations in LDLR being the most common cause. Homozygous FH is much rarer (prevalence 1:160,000 to 1:1,000,000) and most patients experience severe coronary heart disease by their mid-20s .
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Clinical genetics and genomics laboratory
Ground floor (level 2), Sydney wing, Royal Brompton Hospital, Sydney Street, London, SW3 6NP
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