Familial hypercholesterolaemia – is it really that rare?

9th April 2023, Dr Chee L Khoo

Familial Hypercholesterolaemia

One of the most important contributor to atherosclerosis is elevated cholesterol levels. Familial hypercholesterolaemia (FH) is a genetic disease that manifests as a disorder of cholesterol metabolism by mutations in hereditary genes usually in an autosomal dominant manner.  Data suggest that 1 in 200 Caucasians are heterozygous for FH and that 1 in 160,000–300,000 are homozygous, which are much higher prevalence than those estimated a decade earlier (1).…