2023 update on European Atherosclerosis Society consensus statement on homozygous familial hypercholesterolaemia: new treatments and clinical guidance

M Cuchel, FJ Raal, RA Hegele, K Al-Rasadi… - European heart …, 2023 - academic.oup.com
This 2023 statement updates clinical guidance for homozygous familial
hypercholesterolaemia (HoFH), explains the genetic complexity, and provides pragmatic …

Worldwide prevalence of familial hypercholesterolemia: meta-analyses of 11 million subjects

SO Beheshti, CM Madsen, A Varbo… - Journal of the American …, 2020 - jacc.org
Background Despite the greater prevalence of familial hypercholesterolemia (FH) in
subjects with ischemic heart disease (IHD), premature IHD, and severe …

Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel

AC Sturm, JW Knowles, SS Gidding, ZS Ahmad… - Journal of the American …, 2018 - jacc.org
Although awareness of familial hypercholesterolemia (FH) is increasing, this common,
potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic …

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

A Wiegman, SS Gidding, GF Watts… - European heart …, 2015 - academic.oup.com
Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary
heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and …

Diagnosis and treatment of heterozygous familial hypercholesterolemia

MP McGowan, SH Hosseini Dehkordi… - Journal of the …, 2019 - Am Heart Assoc
Familial hypercholesterolemia (FH) is a common yet underdiagnosed autosomal dominant
disorder that affects% 1 in 220 individuals globally. 1 FH is characterized by lifelong …

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the …

M Cuchel, E Bruckert, HN Ginsberg… - European heart …, 2014 - academic.oup.com
Abstract Aims Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening
condition characterized by markedly elevated circulating levels of low-density lipoprotein …

PCSK9 inhibition with evolocumab (AMG 145) in heterozygous familial hypercholesterolaemia (RUTHERFORD-2): a randomised, double-blind, placebo-controlled …

FJ Raal, EA Stein, R Dufour, T Turner, F Civeira… - The Lancet, 2015 - thelancet.com
Background Heterozygous familial hypercholesterolaemia is characterised by low cellular
uptake of LDL cholesterol, increased plasma LDL cholesterol concentrations, and premature …

Reducing the clinical and public health burden of familial hypercholesterolemia: a global call to action

KA Wilemon, J Patel, C Aguilar-Salinas… - JAMA …, 2020 - jamanetwork.com
Importance Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated
genetic disorder that leads to premature morbidity and mortality due to atherosclerotic …

Predicting cardiovascular events in familial hypercholesterolemia: the SAFEHEART registry (Spanish Familial Hypercholesterolemia Cohort Study)

L Perez de Isla, R Alonso, N Mata… - Circulation, 2017 - Am Heart Assoc
Background: Although risk factors for atherosclerotic cardiovascular disease (ASCVD) in
familial hypercholesterolemia (FH) have been described, models for predicting incident …

Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in …

M Benn, GF Watts, A Tybjærg-Hansen… - European heart …, 2016 - academic.oup.com
Aims Ideally, familial hypercholesterolaemia (FH) is diagnosed by testing for mutations that
decrease the catabolism of low-density lipoprotein (LDL) cholesterol; however, genetic …