Article

Familial hypercholesterolaemia (FH) is an autosomal dominant disorder
characterised by substantially elevated low-density lipoprotein (LDL)
cholesterol. Although affecting approximately one in 250 individuals worldwide,
FH is currently underreported and a greater awareness of this condition is
required. Opportunistic screening for FH in acute coronary syndrome patients
offers utility for identifying previously undiagnosed individuals and for
initiating treatment. Methods
The purpose of this commentary is to provide a
brief update on recent data investigating several key aspects of FH in patients
with acute coronary syndromes, including prevalence, risk of coronary artery
disease, molecular diagnosis, cardiac imaging, as well as the efficacy of PCSK9
inhibition. Results FH is relatively common among patients with coronary artery
disease and is associated with a considerably increased risk of premature and
recurrent cardiovascular events. Computed tomographic coronary angiography may be
useful for identifying high-risk FH individuals. FH patients with a pathogenic
mutation have a greater risk of the same LDL cholesterol than individuals without
a mutation. PCSK9 monoclonal antibodies significantly lower LDL cholesterol in
heterozygous and homozygous FH patients, with a greater attainment of LDL
cholesterol targets, and can reduce the need for lipoprotein apheresis.
Conclusions These data support the opportunistic screening for FH at the time of
angiography or an acute coronary syndrome, followed by cascade testing of
relatives of index cases. PCSK9 monoclonal antibodies are an important
therapeutic advance for safely inhibiting the progression of atherosclerotic
burden in FH, as supported by the most recent clinical endpoint trials.

Langue : ANGLAIS