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 …

Apolipoprotein E in lipoprotein metabolism, health and cardiovascular disease

AD Marais - Pathology, 2019 - Elsevier
Summary Apolipoprotein E (apoE), a 34 kDa circulating glycoprotein of 299 amino acids,
predominantly synthesised in the liver, associates with triglyceride-rich lipoproteins to …

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 …

The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association

SS Gidding, M Ann Champagne, SD de Ferranti… - Circulation, 2015 - Am Heart Assoc
2168 Circulation December 1, 2015 sufficient evidence for health benefit exists to implement
case finding via family history–based screening, cascade screening, or other strategies …

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 …

Genetic and molecular architecture of familial hypercholesterolemia

M Abifadel, C Boileau - Journal of internal medicine, 2023 - Wiley Online Library
Atherosclerotic cardiovascular disease is the leading cause of death globally. Despite its
important risk of premature atherosclerosis and cardiovascular disease, familial …

APOE gene variants in primary dyslipidemia

Y Abou Khalil, JP Rabès, C Boileau, M Varret - Atherosclerosis, 2021 - Elsevier
Apolipoprotein E (apoE) is a major apolipoprotein involved in lipoprotein metabolism. It is a
polymorphic protein and different isoforms are associated with variations in lipid and …

Non‐alcoholic fatty liver disease‐related risk of cardiovascular disease and other cardiac complications

CD Byrne, G Targher - Diabetes, Obesity and Metabolism, 2022 - Wiley Online Library
Abstract Background/Aim Non‐alcoholic fatty liver disease (NAFLD) affects approximately
25% of the global adult population. The aim of this narrative review is to describe the …

Familial hypercholesterolaemia

JC Defesche, SS Gidding, M Harada-Shiba… - Nature reviews Disease …, 2017 - nature.com
Familial hypercholesterolaemia is a common inherited disorder characterized by abnormally
elevated serum levels of low-density lipoprotein (LDL) cholesterol from birth, which in time …

Genetic determinants of inherited susceptibility to hypercholesterolemia–a comprehensive literature review

CS Paththinige, ND Sirisena… - Lipids in health and …, 2017 - Springer
Hypercholesterolemia is a strong determinant of mortality and morbidity associated with
cardiovascular diseases and a major contributor to the global disease burden. Mutations in …