Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total
cholesterol and
low density lipoprotein (
LDL) cholesterol.The extent of underdiagnosis and undertreatment of individuals with FH is largely unknown.The
LDL-lowering capacity of
statins in combination with other
lipid-lowering drugs is maximally around 50-60%. FH patients have a strongly elevated
LDL-C and in most cases maximal current treatment is not sufficient to reach the desired
LDL targets.Therefore, FH patients have a large residual cardiovascular risk despite the use of
statins and there is a medical need for new additional drugs to further lower
LDL-C in patients with FH to improve their prognosis.
PCSK9 inhibitors have shown great efficacy in lowering
lipids with very few side effects. No synergism between
statins and PCSK9 inhibition was observed in many trials, allowing clinicians to select a
statin dose before considering the initiation of PCSK9-inhibitor
therapy.In patients with FH, who are at risk for markedly accelerated
atherosclerosis and premature cardiovascular death, also treatment with
lomitapide or
mipomersen has the potential to reduce the risk of atherosclerotic
cardiovascular disease and premature mortality.These new drugs will be probably reserved for the most severely affected FH patients and could help clinicians to reduce their residual cardiovascular risk.