Challenges in the Diagnosis and Treatment of Homozygous Familial Hypercholesterolemia

Evaluation of the effects of the weak CYP3A4 inhibitors atorvastatin and ethinyl estradiol/norgestimate on lomitapide pharmacokinetics in healthy subjects

(2015) T.A. King et al.   ATHEROSCLEROSIS

Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial

(2015) Frederick J Raal et al.   LANCET

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

(2014) Barbara Sjouke et al.   EUROPEAN HEART JOURNAL

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

The doctor's dilemma: Challenges in the diagnosis and care of homozygous familial hypercholesterolemia

(2014) Seth J. Baum et al.   Journal of Clinical Lipidology

National Lipid Association recommendations for patient-centered management of dyslipidemia: Part 1 – executive summary

(2014) Terry A. Jacobson et al.   Journal of Clinical Lipidology

Normalization of Low-Density Lipoprotein Receptor Expression in Receptor Defective Homozygous Familial Hypercholesterolemia by Inhibition of PCSK9 With Alirocumab

(2014) Gilles Lambert et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The Severe Hypercholesterolemia Phenotype

(2014) Allan D. Sniderman et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

(2013) Stefano Bertolini et al.   ATHEROSCLEROSIS

Effect of the Proprotein Convertase Subtilisin/Kexin 9 Monoclonal Antibody, AMG 145, in Homozygous Familial Hypercholesterolemia

(2013) Evan A. Stein et al.   CIRCULATION

Long-term efficacy and safety of mipomersen in patients with familial hypercholesterolaemia: 2-year interim results of an open-label extension

(2013) Raul D. Santos et al.   EUROPEAN HEART JOURNAL

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

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

(2013) Gerald F. Watts et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Familial hypercholesterolemia and estimation of US patients eligible for low-density lipoprotein apheresis after maximally tolerated lipid-lowering therapy

(2013) Raghu Vishwanath et al.   Journal of Clinical Lipidology

Homozygous familial hypercholesterolemia: Current perspectives on diagnosis and treatment

(2012) Frederick J. Raal et al.   ATHEROSCLEROSIS

Clinical pharmacological properties of mipomersen (Kynamro), a second generation antisense inhibitor of apolipoprotein B

(2012) Stanley T. Crooke et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

Apolipoprotein B Synthesis Inhibition With Mipomersen in Heterozygous Familial Hypercholesterolemia

(2012) Evan A. Stein et al.   CIRCULATION

Adeno-Associated Virus Serotype 8 Gene Therapy Leads to Significant Lowering of Plasma Cholesterol Levels in Humanized Mouse Models of Homozygous and Heterozygous Familial Hypercholesterolemia

(2012) Sadik H. Kassim et al.   HUMAN GENE THERAPY

Apheresis in homozygous familial hypercholesterolemia: The results of a follow-up of all Norwegian patients with homozygous familial hypercholesterolemia

(2012) Asgeir Græsdal et al.   Journal of Clinical Lipidology

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

Multiple functions of microsomal triglyceride transfer protein

(2012) M Mahmood Hussain et al.   Nutrition & Metabolism

A novel type of familial hypercholesterolemia: Double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene

(2011) Hayato Tada et al.   ATHEROSCLEROSIS

Familial hypercholesterolaemia: A model of care for Australasia

(2011) Gerald F. Watts et al.   ATHEROSCLEROSIS SUPPLEMENTS

Reduction in Mortality in Subjects With Homozygous Familial Hypercholesterolemia Associated With Advances in Lipid-Lowering Therapy

(2011) Frederick J. Raal et al.   CIRCULATION

Management of Familial Hypercholesterolemias in adult patients: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

(2011) Matthew K. Ito et al.   Journal of Clinical Lipidology

Familial Hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

(2011) Paul N. Hopkins et al.   Journal of Clinical Lipidology

Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients

(2011) Anne C. Goldberg et al.   Journal of Clinical Lipidology

Sudden Death in a 4-Year-Old Boy: A Near-Complete Occlusion of the Coronary Artery Caused by an Aggressive Low-Density Lipoprotein Receptor Mutation (W556R) in Homozygous Familial Hypercholesterolemia

(2010) Kurt Widhalm et al.   JOURNAL OF PEDIATRICS

Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial

(2010) Frederick J Raal et al.   LANCET

Heart Disease and Stroke Statistics—2010 Update

(2009) et al.   CIRCULATION

Recommendations for the use of LDL apheresis

(2008) G.R. Thompson   ATHEROSCLEROSIS