Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease

G Yuan, J Wang, RA Hegele - Cmaj, 2006 - Can Med Assoc
Heterozygous familial hypercholesterolemia (HeFH) is a monogenic disorder that affects
about 1 in 500 people, with a higher prevalence in certain subpopulations such as people of …

[HTML][HTML] Phenotype diversity among patients with homozygous familial hypercholesterolemia: a cohort study

FJ Raal, B Sjouke, GK Hovingh, BF Isaac - Atherosclerosis, 2016 - Elsevier
Abstract Aims Homozygous familial hypercholesterolaemia (HoFH) is a rare disorder usually
caused by mutations in both alleles of the low-density lipoprotein receptor gene (LDLR) …

[HTML][HTML] Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: a study of a cohort of 14,000 mutation carriers

J Besseling, I Kindt, M Hof, JJP Kastelein, BA Hutten… - Atherosclerosis, 2014 - Elsevier
Background Some recently emerged lipid-lowering therapies are currently restricted to
patients with homozygous familial hypercholesterolemia (HoFH), and studies are underway …

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 …

Stratification in heterozygous familial hypercholesterolemia: imaging, biomarkers, and genetic testing

P Corral, CA Aguilar Salinas, MG Matta, V Zago… - Current Atherosclerosis …, 2023 - Springer
Abstract Purpose of Review Heterozygous familial hypercholesterolemia (HeFH) is the most
common monogenic autosomal dominant disorder. However, the condition is often …

Homozygous familial hypercholesterolemia

A Nohara, H Tada, M Ogura, S Okazaki… - … of atherosclerosis and …, 2021 - jstage.jst.go.jp
Familial hypercholesterolemia (FH) is an inherited disorder with retarded clearance of
plasma LDL caused by mutations of the genes involved in the LDL receptor-mediated …

[HTML][HTML] Challenges in the diagnosis and treatment of homozygous familial hypercholesterolemia

MK Ito, GF Watts - Drugs, 2015 - Springer
Homozygous familial hypercholesterolemia (HoFH) is a rare, genetic disorder characterized
by an absence or impairment of low-density lipoprotein receptor (LDLR) function resulting in …

Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation

AC Fahed, RM Safa, FF Haddad, FF Bitar… - Molecular genetics and …, 2011 - Elsevier
Familial hypercholesterolemia (FH) is an inherited disease characterized by the deposition
of LDL in tissues causing premature atherosclerosis. Many genes are implicated in FH …

Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences

AF Vuorio, K Aalto-Setälä, UM Koivisto… - Annals of …, 2001 - Taylor & Francis
Familial hypercholesterolaemia (FH) is an autosomal co-dominantly inherited condition
resulting from mutations of the low-density lipoprotein (LDL) receptor which occur in …

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 …