Article

Familial hypercholesterolaemia is an autosomal dominant inherited disorder
characterised by elevated low-density lipoprotein cholesterol levels and
consequently an increased risk of atherosclerotic cardiovascular disease (ASCVD).
Familial hypercholesterolaemia is relatively common, but is often underdiagnosed
and undertreated. Cardiologists are likely to encounter many individuals with
familial hypercholesterolaemia; however, patients presenting with premature ASCVD
are rarely screened for familial hypercholesterolaemia and fasting lipid levels
are infrequently documented. Given that individuals with familial
hypercholesterolaemia and ASCVD are at a particularly high risk of subsequent
cardiac events, this is a missed opportunity for preventive therapy. Furthermore,
because there is a 50% chance that first-degree relatives of individuals with
familial hypercholesterolaemia will also be affected by the disorder, the
underdiagnosis of familial hypercholesterolaemia among patients with ASCVD is a
barrier to cascade screening and the prevention of ASCVD in affected relatives.
Targeted screening of patients with ASCVD is an effective strategy to identify
new familial hypercholesterolaemia index cases. Statins are the standard
treatment for individuals with familial hypercholesterolaemia; however,
low-density lipoprotein cholesterol targets are not achieved in a large
proportion of patients despite treatment. Proprotein convertase subtilisin/kexin
type 9 (PCSK9) inhibitors have been shown to reduce low-density lipoprotein
cholesterol levels considerably in individuals with familial
hypercholesterolaemia who are concurrently receiving the maximal tolerated statin
dose. The clinical benefit of PCSK9 inhibitors must,
however, also be considered
in terms of their cost-effectiveness. Increased awareness of familial
hypercholesterolaemia is required among healthcare professionals, particularly
cardiologists and primary care physicians, in order to start early preventive measures and to reduce the mortality and morbidity associated with familial
hypercholesterolaemia and ASCVD.

Langue : ANGLAIS