Volume 44, Issue 25, 1 July 2023

Homozygous familial hypercholesterolaemia is a rare autosomal semi-dominant disease affecting males and females equally, characterized by markedly elevated levels of low-density lipoprotein cholesterol (LDL-C) from conception and accelerated atherosclerotic cardiovascular disease, often resulting in early death. Homozygous familial hypercholesterolaemia is diagnosed late and undertreated; both established and novel therapies offer hope to patients, but treatment inequity exacerbates poorer outcomes in less affluent countries (reference 12). APOB, apolipoprotein B; CI, confidence interval; HR, hazard ratio; LDLR, low-density lipoprotein receptor; LDLRAP1, low-density lipoprotein receptor adaptor protein 1; PCSK9, proprotein convertase subtilisin/kexin type 9.