Survival in homozygous familial hypercholesterolaemia is determined by the on-treatment level of serum cholesterol

Abstract

These findings provide unequivocal evidence that the extent of reduction of serum cholesterol achieved by a combination of therapeutic measures, including statins, ezetimibe, lipoprotein apheresis, and evolocumab, is a major determinant of survival in homozygous FH.

A cross-national investigation of cardiovascular survival in homozygous familial hypercholesterolemia: The Sino-Roman Study

“…Nevertheless, the benefits of LA may outweigh the risks and burdens for hoFH patients, and the cost-effectiveness of treating hoFH with LA is estimated to be greater than for heterozygous FH. 10,38 Moreover, the effectiveness of LA in our study is well emphasized by an incidence of CVD (22.2%) and death (16.7%) in the Roman cohort, which is more favorable than other published studies from Europe and South Africa 1,14,[22][23][24] initiated as early as possible. The first ever pediatric randomized trial with hoFH patients was recently published, 39 demonstrating safe and effective use of Rosuvastatin 20 mg (6 weeks crossover), alone or in conjunction with ezetimibe and/or LA.…”

“…Recent studies have demonstrated that survival in hoFH patients is improved in proportion to the extent of reduction in LDL cholesterol, achievable using different treatments. 1 Plasma LDL cholesterol concentration in hoFH may be lowered by diverse, conventional, and affordable therapies, including statins, ezetimibe, and resins, but these are ineffective in achieving recommended treatment targets. 2 Additional therapies are therefore required, such as lomitapide, proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors and nonpharmacologic approaches, particularly extracorporeal removal of LDL cholesterol by lipoprotein apheresis (LA).…”

Lipoprotein apheresis efficacy, challenges and outcomes: A descriptive analysis from the UK Lipoprotein Apheresis Registry, 1989–2017

“…Since the initiation of this registry in 2011 three major developments have occurred. Firstly, it has been shown unequivocally that total and CV mortality and the incidence of MACE in HoFH are all determined by on-treatment levels of total and LDL-C [7]. Patients with a total cholesterol > 15.1 mmol/l had a hazard ratio for death that was more than tenfold higher than better treated patients with a total cholesterol < 8.1 mmol/l.…”

“…Patients with homozygous familial hypercholesterolaemia (HoFH), severe heterozygous familial hypercholesterolaemia (HeFH) with progressive cardiovascular disease and some patients with hyper-lipoproteinaemia (a) (hyper Lp(a)) benefit from this procedure through lowering of low-density lipoprotein cholesterol (LDL-C) and Lp (a) and the consequent reduction in cardiovascular events [2][3][4][5]. Registry data, together with more recent prospective data, support the value of LA for radical modification of atherogenic lipoproteins by providing a record of lipid levels and cardiovascular events [6,7]. In the UK, the National Institute for Health and Care Excellence (NICE) requires patients to be included in an anonymised register [8].…”

A case report of an acute coronary syndrome in a 10-year-old boy with homozygous familial hypercholesterolaemia

“… 1 , 2 Despite the genotypic variability, the severity of the HoFH phenotype mainly depends on LDL-C levels and residual LDL receptor activity. Survival in HoFH is also driven by the on-treatment levels of LDL-C. 3 …”