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 …

ESC/EAS Guidelines for the management of dyslipidaemias: the Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and …

Ž Reiner, AL Catapano, G De Backer… - European heart …, 2011 - academic.oup.com
Surveys and registries are needed to verify that real-life daily practice is in keeping with what
is recommended in the guidelines, thus completing the loop between clinical research …

[HTML][HTML] Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control …

PJ Talmud, S Shah, R Whittall, M Futema, P Howard… - The Lancet, 2013 - thelancet.com
Background Familial hypercholesterolaemia is a common autosomal-dominant disorder
caused by mutations in three known genes. DNA-based cascade testing is recommended by …

Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome

B Sjouke, DM Kusters, I Kindt, J Besseling… - European heart …, 2015 - academic.oup.com
Aims Homozygous autosomal dominant hypercholesterolaemia (hoADH), an orphan
disease caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B …

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 …

ESC/EAS Guidelines for the management of dyslipidaemias: the Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and …

AL Catapano, Ž Reiner, G De Backer… - …, 2011 - atherosclerosis-journal.com
Cardiovascular disease (CVD) due to atherosclerosis of the arterial vessel wall and to
thrombosis is the foremost cause of premature mortality and of disability-adjusted life years …

Guidelines for diagnosis and treatment of familial hypercholesterolemia 2017

M Harada-Shiba, H Arai, Y Ishigaki… - … of Atherosclerosis and …, 2018 - jstage.jst.go.jp
Familial hypercholesterolemia (FH) is an autosomal hereditary disease with the 3 major
clinical features of 1) hyper-LDL-cholesterolemia, 2) premature CAD and 3) tendon and skin …

Attainment of LDL-cholesterol treatment goals in patients with familial hypercholesterolemia: 5-year SAFEHEART registry follow-up

L Perez de Isla, R Alonso, GF Watts, N Mata… - Journal of the American …, 2016 - jacc.org
Background: Familial hypercholesterolemia (FH) is the most common genetic disorder
associated with premature atherosclerotic cardiovascular disease (ASCVD). There are …

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 …

Diagnosis and treatment of familial hypercholesterolaemia

GK Hovingh, MH Davidson, JJP Kastelein… - European heart …, 2013 - academic.oup.com
Familial hypercholesterolaemia (FH) is an autosomal dominant genetic disorder, associated
with elevated levels of low-density lipoprotein-cholesterol (LDL-C), which can lead to …