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Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.
Atheroscler Plus
March 2025
Department of Laboratory Medicine, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Background And Aims: Familial hypercholesterolemia (FH) and other disorders with similar features are common genetic disorders that remain underdiagnosed and undertreated, due in part to the cost of screening. The aim of this study was to design and implement a whole gene targeted NGS panel for the molecular diagnosis of FH and statin intolerance with an emphasis on high quality variant calling, including copy number analysis.
Methods: A whole gene panel for hybridisation-based short read NGS was designed for the dominant FH-genes low density lipoprotein receptor (), apolipoprotein B (APOB), proproteinconvertas subtilisin/kexin type 9 (PCSK9), apolipoprotein E (APOE) and the recessive FH-genes low density lipoprotein receptor adaptor protein 1 (), ATP binding cassette subfamily member 5/8 (ABCG5/8) and lipase A, lysosomal acid type (), as well as solute carrier organic anion transporter family member 1B1 (), not an FH gene but linked to statin intolerance.
Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry.
Eur Heart J
January 2025
Department of Primary Care and Public Health, Imperial Centre for Cardiovascular Disease Prevention, School of Public Health, Imperial College London, White City Campus, 90 Wood Lane, London W12 0BZ, UK.
Background And Aims: Overweight and obesity are modifiable risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population, but their prevalence in individuals with heterozygous familial hypercholesterolaemia (HeFH) and whether they confer additional risk of ASCVD independent of LDL cholesterol (LDL-C) remains unclear.
Methods: Cross-sectional analysis was conducted in 35 540 patients with HeFH across 50 countries, in the EAS FH Studies Collaboration registry. Prevalence of World Health Organization-defined body mass index categories was investigated in adults (n = 29 265) and children/adolescents (n = 6275); and their association with prevalent ASCVD.
Response to Letter to the Editor titled, "Does Evolocumab treatment reduce carotid intima-media thickness in paediatric patients with heterozygous familial hypercholesterolaemia?" by Christian Saleh.
Eur J Prev Cardiol
January 2025
Clinical Development, Amgen Inc., Thousand Oaks, CA, USA.
Treatment of Heterozygous Familial Hypercholesterolemia in Children: Is Lower Better?
Eur J Prev Cardiol
January 2025
Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Exploring emerging pharmacotherapies for type 2 diabetes patients with hypertriglyceridemia.
Expert Opin Pharmacother
January 2025
Division of Cardiology, Department of Internal Medicine, Wan Fang Hospital, Taipei Medical University, Taipei City, Taiwan.
Introduction: Atherogenic dyslipidaemia with increased triglycerides, low high-density lipoprotein cholesterol levels and increased small dense low-density lipoprotein (LDL) particles is a major risk factor contributing to the increased cardiovascular (CV) risk in patients with type 2 diabetes (T2D). This is regarded as a residual risk after achieving target levels of LDL cholesterol.
Areas Covered: This article reviews the novel therapies to reduce triglycerides in patients with T2D.
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