An Expert Consensus Panel recommends that clinical genetic testing becomes standard care for patients with definite or suspicion of FH, as well as for their at-risk relatives, to improve risk stratification, diagnosis and early treatment.

In patients with HoFH, lomitapide led to a significant reduction of LDL-c levels and to achievement of EAS targets in many patients, while CV event rates correlated with LDL-c levels.

Prof. Frederick Raal describes the prevalence and phenotypic variability of FH. Novel therapies have changed FH from a lethal disorder to a manageable dyslipidaemia.

New ORION-data shows inclisiran has a one-size-fits-all dosing regimen of 300 mg on day 1, day 90 and every six months thereafter, across a wide range of dyslipidemia patients, including HoFH.

A model assuming 100% adherence to maximal statin dose showed that only 10% of heFH patients with CHD would reach guideline-recommended LDL-c goal, and about half of those without CHD.

In a retrospective survey of 133 patients with HoFH, the total serum cholesterol achieved by lipid-lowering therapies, was a major determinant of survival.

A clinically meaningful LDL-c-lowering activity was observed in patients receiving alirocumab who are double or compound heterozygous, or homozygous for genes that are causative for FH.

Neither FH mutations, nor high LDL-c levels were associated with an increased risk of ischemic stroke, with the exception of patients with a history of ischemic heart disease.

ACC 2018 Treatment with alirocumab on top of high-intensity statins lowered MACE by 15% in patients with recent ACS in the ODYSSEY OUTCOMES trial and was associated with a lower rate of all-cause death.

//Ex vivo// LDL-receptor expression is inversely associated with the plasma levels of LDL-c and apoB in HoFH patients before and after treatment with evolocumab.

Long-term dosing of evolocumab in patients with heterozygous familial hypercholesterolemia is safe and well tolerated, and resulted in marked reduction of LDL-C levels.

This lecture was part of a CME accredited symposium: PCSK9 inhibition & Cardiovascular Outcomes: Review of lipid targets and treatment strategies held at ESC 2017 in Barcelona on August 26, 2017