Familial Hypercholesterolaemia and the Risk of Cardiovascular Events

Familial hypercholesterolaemia (FH) is an autosomal dominant genetic disorder, characterised by markedly elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth, which confers a substantially increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Pathogenic variants primarily occur in the genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (ApoB), low-density lipoprotein receptor adaptor protein 1 (LDLRAP1), or proprotein convertase subtilisin/kexin type 9 (PCSK9). Early diagnosis, based on clinical criteria, family history, and genetic testing, is imperative to promptly initiate aggressive therapeutic strategies. Standard treatment involves lifestyle modifications and high-intensity pharmacotherapy, primarily with statins, often in combination with ezetimibe. For patients who do not achieve their therapeutic goals or are intolerant, PCSK9 inhibitors represent a significant evolution in the treatment paradigm. In this article, we present a case of homozygous familial hypercholesterolaemia.