Abstract
Homozygous familiar hypercholesterolemia (HoFH) is a rare condition characterised by very high levels of low-density lipoprotein cholesterol from birth and an extremely high risk of premature atherosclerotic cardiovascular disease (ACVD).1 Two pathogenic allelic variants at the LDLR, APOB, PCSK9, or LDLRAP1 gene loci are responsible for the disease.2 HoFH is a natural model showing the causal association between LDL cholesterol and ACVD, with cases of coronary disease described in childhood.3 Despite advances in the diagnosis and treatment of hypercholesterolemia in recent years, HoFH continues to be a disease with a low recognition rate in most countries, poor prognosis, low quality of life and life expectancy, and a high cost for health systems.
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