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 …

Myocardial interstitial fibrosis in heart failure: biological and translational perspectives

A González, EB Schelbert, J Díez, J Butler - Journal of the American …, 2018 - jacc.org
Myocardial interstitial fibrosis contributes to left ventricular dysfunction leading to the
development of heart failure. Basic research has provided abundant evidence for the …

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

TR Tromp, ML Hartgers, GK Hovingh, AJ Vallejo-Vaz… - The Lancet, 2022 - thelancet.com
Summary Background Homozygous familial hypercholesterolaemia (HoFH) is a rare
inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels …

The complex molecular genetics of familial hypercholesterolaemia

AJ Berberich, RA Hegele - Nature Reviews Cardiology, 2019 - nature.com
Familial hypercholesterolaemia is the most commonly encountered genetic condition that
predisposes individuals to premature cardiovascular disease. Nevertheless, most patients …

Guidelines for the diagnosis and treatment of pediatric familial hypercholesterolemia 2022

M Harada-Shiba, A Ohtake, D Sugiyama… - … of atherosclerosis and …, 2023 - jstage.jst.go.jp
As atherosclerosis begins in childhood, early diagnosis and treatment of familial
hypercholesterolemia (FH) is considered necessary. The basic diagnosis of pediatric FH …

Mipomersen in familial hypercholesterolemia: an update on health-related quality of life and patient-reported outcomes

D Chambergo-Michilot, A Alur, S Kulkarni… - Vascular health and …, 2022 - Taylor & Francis
Familial hypercholesterolemia (FH) is an autosomal dominant condition that leads to
significantly elevated low-density lipoprotein cholesterol (LDL-C) levels and an elevated risk …

Lipoprotein metabolism in familial hypercholesterolemia

K Chemello, J García-Nafría, A Gallo, C Martín… - Journal of Lipid …, 2021 - ASBMB
Familial hypercholesterolemia (FH) is one of the most common genetic disorders in humans.
It is an extremely atherogenic metabolic disorder characterized by lifelong elevations of …

Efficacy and safety of lomitapide in homozygous familial hypercholesterolaemia: the pan-European retrospective observational study

L d'Erasmo, K Steward, AB Cefalù… - European journal of …, 2022 - academic.oup.com
Aims Lomitapide is a lipid-lowering agent indicated as an adjunct therapy for adult
homozygous familial hypercholesterolaemia (HoFH). This study evaluated the medium-term …

Clinical implications of monogenic versus polygenic hypercholesterolemia: long‐term response to treatment, coronary atherosclerosis burden, and cardiovascular …

L D'Erasmo, I Minicocci, A Di Costanzo… - Journal of the …, 2021 - Am Heart Assoc
Background Familial hypercholesterolemia (FH) may arise from deleterious monogenic
variants in FH‐causing genes as well as from a polygenic cause. We evaluated the …

Lomitapide–a microsomal triglyceride transfer protein inhibitor for homozygous familial hypercholesterolemia

C Stefanutti - Current atherosclerosis reports, 2020 - Springer
Abstract Purpose of Review Homozygous familial hypercholesterolemia (HoFH) is a rare,
genetic condition characterized by high levels of Low density lipoprotein cholesterol (LDL …