New Approaches in Detection and Treatment of Familial Hypercholesterolemia

Targeted next-generation sequencing in monogenic dyslipidemias

(2015) Robert A. Hegele et al.   CURRENT OPINION IN LIPIDOLOGY

Ezetimibe Added to Statin Therapy after Acute Coronary Syndromes

(2015) Christopher P. Cannon et al.   NEW ENGLAND JOURNAL OF MEDICINE

Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia

(2014) Paulo Caleb Junior Lima Santos et al.   ATHEROSCLEROSIS

Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia

(2014) Sigrid W. Fouchier et al.   CIRCULATION RESEARCH

What is new in familial hypercholesterolemia?

(2014) Raul D. Santos et al.   CURRENT OPINION IN LIPIDOLOGY

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

(2014) M. Cuchel et al.   EUROPEAN HEART JOURNAL

Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation

(2014) Gerald F. Watts et al.   Journal of Clinical Lipidology

Cascade screening based on genetic testing is cost-effective: Evidence for the implementation of models of care for familial hypercholesterolemia

(2014) Zanfina Ademi et al.   Journal of Clinical Lipidology

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

(2014) Christopher T. Johansen et al.   JOURNAL OF LIPID RESEARCH

Lipoprotein(a) Levels in Familial Hypercholesterolemia

(2014) Rodrigo Alonso et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Nonpharmacological Lipoprotein Apheresis Reduces Arterial Inflammation in Familial Hypercholesterolemia

(2014) Diederik F. van Wijk et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do et al.   NATURE

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic

(2013) Marta Futema et al.   ATHEROSCLEROSIS

Efficacy and Safety of Longer-Term Administration of Evolocumab (AMG 145) in Patients With Hypercholesterolemia

(2013) Michael J. Koren et al.   CIRCULATION

Microsomal transfer protein inhibition in humans

(2013) Marina Cuchel et al.   CURRENT OPINION IN LIPIDOLOGY

Diagnosis and treatment of familial hypercholesterolaemia

(2013) G. Kees Hovingh et al.   EUROPEAN HEART JOURNAL

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

(2013) B. G. Nordestgaard et al.   EUROPEAN HEART JOURNAL

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

(2013) Jana Vandrovcova et al.   GENETICS IN MEDICINE

A systematic review of economic evaluations of the detection and treatment of familial hypercholesterolemia

(2013) Zanfina Ademi et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

The extended abnormalities in lipoprotein metabolism in familial hypercholesterolemia: Developing a new framework for future therapies

(2013) Esther M.M. Ooi et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Emerging low-density lipoprotein therapies: Microsomal triglyceride transfer protein inhibitors

(2013) Anne C. Goldberg   Journal of Clinical Lipidology

2013 ACC/AHA Guideline on the Treatment of Blood Cholesterol to Reduce Atherosclerotic Cardiovascular Risk in Adults

(2013) Neil J. Stone et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

(2013) Philippa J Talmud et al.   LANCET

Homozygous familial hypercholesterolemia: Current perspectives on diagnosis and treatment

(2012) Frederick J. Raal et al.   ATHEROSCLEROSIS

Low-Density Lipoprotein Cholesterol–Lowering Effects of AMG 145, a Monoclonal Antibody to Proprotein Convertase Subtilisin/Kexin Type 9 Serine Protease in Patients With Heterozygous Familial Hypercholesterolemia

(2012) Frederick Raal et al.   CIRCULATION

Apolipoprotein B Synthesis Inhibition With Mipomersen in Heterozygous Familial Hypercholesterolemia

(2012) Evan A. Stein et al.   CIRCULATION

Mipomersen, an apolipoprotein B synthesis inhibitor, lowers low-density lipoprotein cholesterol in high-risk statin-intolerant patients: a randomized, double-blind, placebo-controlled trial

(2012) Maartje E. Visser et al.   EUROPEAN HEART JOURNAL

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia

(2012) Mohammad Mahdi Motazacker et al.   EUROPEAN HEART JOURNAL

Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29 365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants

(2012) Roeland Huijgen et al.   EUROPEAN HEART JOURNAL

Guidelines for the Management of Familial Hypercholesterolemia

(2012) Mariko Harada-Shiba et al.   Journal of Atherosclerosis and Thrombosis

Familial Hypercholesterolemia in the Danish General Population: Prevalence, Coronary Artery Disease, and Cholesterol-Lowering Medication

(2012) Marianne Benn et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Effect of a monoclonal antibody to PCSK9, REGN727/SAR236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: a phase 2 randomised controlled trial

(2012) Evan A Stein et al.   LANCET

Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study

(2012) Marina Cuchel et al.   LANCET

Paediatric screening for hypercholesterolaemia in Europe: Table 1

(2011) D M Kusters et al.   ARCHIVES OF DISEASE IN CHILDHOOD

ESC/EAS Guidelines for the management of dyslipidaemias

(2011) Alberico L. Catapano et al.   ATHEROSCLEROSIS

2009 Canadian Cardiovascular Society/Canadian guidelines for the diagnosis and treatment of dyslipidemia and prevention of cardiovascular disease in the adult – 2009 recommendations

(2011) Jacques Genest et al.   CANADIAN JOURNAL OF CARDIOLOGY

Molecular Basis of Autosomal Dominant Hypercholesterolemia

(2011) Anouk van der Graaf et al.   CIRCULATION

Assessment of Carotid Atherosclerosis in Normocholesterolemic Individuals With Proven Mutations in the Low-Density Lipoprotein Receptor or Apolipoprotein B Genes

(2011) Roeland Huijgen et al.   Circulation-Cardiovascular Genetics

Familial Hypercholesterolemia: The Lipids or the Genes?

(2011) Akl C Fahed et al.   Nutrition & Metabolism

Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170 000 participants in 26 randomised trials

(2010)   LANCET

Safety of Anacetrapib in Patients with or at High Risk for Coronary Heart Disease

(2010) Christopher P. Cannon et al.   NEW ENGLAND JOURNAL OF MEDICINE

Differences in characteristics and risk of cardiovascular disease in familial hypercholesterolemia patients with and without tendon xanthomas: A systematic review and meta-analysis

(2009) Daniëlla M. Oosterveer et al.   ATHEROSCLEROSIS

Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands

(2009) A.H. Pijlman et al.   ATHEROSCLEROSIS

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection

(2009) Daniel S Herman et al.   NATURE METHODS

Comparison of Genetic Versus Clinical Diagnosis in Familial Hypercholesterolemia

(2008) Fernando Civeira et al.   AMERICAN JOURNAL OF CARDIOLOGY

Association of Cholesteryl Ester Transfer Protein Genotypes With CETP Mass and Activity, Lipid Levels, and Coronary Risk

(2008) Alexander Thompson   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Simvastatin with or without Ezetimibe in Familial Hypercholesterolemia

(2008) John J.P. Kastelein et al.   NEW ENGLAND JOURNAL OF MEDICINE