Robert A. Hegele
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View article: Imputation of untreated LDL-C in treated subjects with homozygous familial hypercholesterolaemia: An international collaboration
Imputation of untreated LDL-C in treated subjects with homozygous familial hypercholesterolaemia: An international collaboration Open
View article: DISTÚRBIOS DO SONO E SONOLÊNCIA DIURNA EM MOTORISTAS PROFISSIONAIS IDOSOS: IMPLICAÇÕES PARA A SEGURANÇA NO TRÂNSITO
DISTÚRBIOS DO SONO E SONOLÊNCIA DIURNA EM MOTORISTAS PROFISSIONAIS IDOSOS: IMPLICAÇÕES PARA A SEGURANÇA NO TRÂNSITO Open
O envelhecimento populacional no Brasil, alinhado a uma tendência global, tem resultado no aumento do número de motoristas idosos — um grupo que enfrenta desafios relacionados à redução das capacidades físicas e cognitivas, impactando dire…
View article: Closing the Practice Gap in Secondary Prevention After Acute Coronary Syndromes: a Provincial Implementation Pathway
Closing the Practice Gap in Secondary Prevention After Acute Coronary Syndromes: a Provincial Implementation Pathway Open
View article: SAT-251 Massive Tissue Deposition Of Cholesterol Leading To Multi-organ Failure In Cholestatic Hypercholesterolemia
SAT-251 Massive Tissue Deposition Of Cholesterol Leading To Multi-organ Failure In Cholestatic Hypercholesterolemia Open
Disclosure: D.R. Barros: None. B.G. Ballios: None. Y. Patoida: None. S. Singer: None. C.F. Rosen: None. M.A. Seidman: None. R.A. Hegele: None. G.F. Lewis: None. Background: Cholestasis-induced severe hypercholesterolemia can result in vari…
View article: SAT-248 A Case Series of Heterozygous Familial Hypercholesteremia With PCSK9 Inhibitor Failure
SAT-248 A Case Series of Heterozygous Familial Hypercholesteremia With PCSK9 Inhibitor Failure Open
Disclosure: A. Varghese: None. R.A. Hegele: None. A. Berberich: None. Background: Monoclonal antibodies (MABs) to proprotein convertase subtilisin/kexin 9 (PCSK9) are commonly used to treat heterozygous familial hypercholesterolemia (HeFH)…
View article: Metabolic and vascular contributions to dementia: Soluble epoxide hydrolase‐derived linoleic acid oxylipins and glycemic status are related to cerebral small vessel disease markers, atrophy, and cognitive performance
Metabolic and vascular contributions to dementia: Soluble epoxide hydrolase‐derived linoleic acid oxylipins and glycemic status are related to cerebral small vessel disease markers, atrophy, and cognitive performance Open
INTRODUCTION Type 2 diabetes mellitus (T2DM) is a risk factor for dementia and cerebral small vessel disease, but there remains a need to identify targetable molecular pathways involved in the underlying pathophysiology. METHODS In partici…
View article: Risco de apneia do sono impactou negativamente na qualidade de vida em motoristas profissionais idosos
Risco de apneia do sono impactou negativamente na qualidade de vida em motoristas profissionais idosos Open
Motoristas de ônibus estão expostos a longas jornadas de trabalho, elevado estresse ocupacional e condições irregulares de descanso, fatores que podem comprometer tanto a qualidade de vida quanto a qualidade do sono. Este estudo transversa…
View article: Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia Open
View article: EFFECT OF PLOZASIRAN TARGETING APOC3 ON LIPOPROTEIN PARTICLE NUMBER AND SIZE MEASURED BY NMR IN PATIENTS WITH HYPERTRIGLYCERIDEMIA (HTG)
EFFECT OF PLOZASIRAN TARGETING APOC3 ON LIPOPROTEIN PARTICLE NUMBER AND SIZE MEASURED BY NMR IN PATIENTS WITH HYPERTRIGLYCERIDEMIA (HTG) Open
View article: PALISADE: PLOZASIRAN DECREASES THE RISK OF ACUTE PANCREATITIS AND MAY IMPROVE QUALITY OF LIFE IN FAMILIAL CHYLOMICRONEMIA SYNDROME
PALISADE: PLOZASIRAN DECREASES THE RISK OF ACUTE PANCREATITIS AND MAY IMPROVE QUALITY OF LIFE IN FAMILIAL CHYLOMICRONEMIA SYNDROME Open
View article: Massive tissue deposition of cholesterol leading to multi-organ failure in cholestatic hypercholesterolemia
Massive tissue deposition of cholesterol leading to multi-organ failure in cholestatic hypercholesterolemia Open
Cholestasis-induced severe hypercholesteremia can result in various complications, including the development of xanthomas and concern that marked hypercholesterolemia may accelerate atherosclerosis. However, deposition of lipids and choles…
View article: Reporting Sex and Sex Differences in Preclinical Studies
Reporting Sex and Sex Differences in Preclinical Studies Open
ATVB publishes research work that advances scientific fields in a rigorous and reproducible manner. We have implemented multiple approaches to follow the National Institutes of Health guidelines for rigor and reproducibility. In 2013, ATVB…
View article: Brief communication: Strong concordance of the North American Familial Chylomicronemia Syndrome Score with a positive genetic diagnosis in patients from the Balance study
Brief communication: Strong concordance of the North American Familial Chylomicronemia Syndrome Score with a positive genetic diagnosis in patients from the Balance study Open
The strong concordance between NAFCS Score ≥45 and a positive genetic diagnosis of FCS suggests that either approach can be used for diagnosis except in "uncertain FCS" cases, which require genetic testing. The score might also clinically …
View article: Heterozygous pathogenic PPARG variants in patients with severe hypertriglyceridemia
Heterozygous pathogenic PPARG variants in patients with severe hypertriglyceridemia Open
A small but clinically relevant subgroup of individuals with MCS has FPLD3. Clinical features in FPLD3 are subtle but the phenotype can be metabolically severe. Genetic screening of patients with severe hypertriglyceridemia should include …
View article: Neurodegeneration in familial chylomicronemia syndrome
Neurodegeneration in familial chylomicronemia syndrome Open
FCS is associated with neuropathic symptoms, elevated vibration perception, small nerve fiber damage, and cardiac autonomic dysfunction.
View article: Efficacy and Safety of Inclisiran in Adolescents With Genetically Confirmed Homozygous Familial Hypercholesterolemia: Results From the Double-Blind, Placebo-Controlled Part of the ORION-13 Randomized Trial
Efficacy and Safety of Inclisiran in Adolescents With Genetically Confirmed Homozygous Familial Hypercholesterolemia: Results From the Double-Blind, Placebo-Controlled Part of the ORION-13 Randomized Trial Open
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a genetic disease characterized by high levels of low-density lipoprotein cholesterol (LDL-C) present from birth, leading to early-onset and progressive atherosclerotic cardiov…
View article: Implementation strategies for improving the care of familial hypercholesterolaemia from the International Atherosclerosis Society: next steps in implementation science and practice
Implementation strategies for improving the care of familial hypercholesterolaemia from the International Atherosclerosis Society: next steps in implementation science and practice Open
Familial hypercholesterolaemia (FH) is the most common monogenic condition associated with premature atherosclerotic cardiovascular disease. Early detection and initiation of cholesterol lowering therapy combined with lifestyle changes imp…
View article: Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic
Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic Open
Background: Genetic causes of chronic diseases, once considered rare in adult-onset disease, now account for between 10 and 20% of cases of chronic kidney disease (CKD). Confirming a genetic diagnosis can influence disease management; howe…
View article: The Importance of Hypertriglyceridemia: Risk of Atherosclerosis and Available Treatments
The Importance of Hypertriglyceridemia: Risk of Atherosclerosis and Available Treatments Open
Serum triglycerides are derived from both exogenous and endogenous sources. Exogenous triglycerides are obtained through the diet and circulate post prandially within large, intestinally-derived chylomicron particles, which are normally cl…
View article: Reappraisal of statin primary prevention trials: implications for identification of the statin-eligible primary prevention patient
Reappraisal of statin primary prevention trials: implications for identification of the statin-eligible primary prevention patient Open
Aims Identification of patients eligible for primary prevention statin therapy is complex, often relying upon risk algorithms that diverge internationally. Our goal was to develop a simpler global definition of statin-eligible primary prev…
View article: Molecular Therapeutics in Development to Treat Hyperlipoproteinemia
Molecular Therapeutics in Development to Treat Hyperlipoproteinemia Open
Clinical endpoints caused by hyperlipoproteinemia include atherosclerotic cardiovascular disease and acute pancreatitis. Emerging lipid-lowering therapies targeting proprotein convertase subtilisin/kexin 9 (PCSK9), lipoprotein(a), apolipop…
View article: Lipoprotein Lipase: Structure, Function, and Genetic Variation
Lipoprotein Lipase: Structure, Function, and Genetic Variation Open
Biallelic rare pathogenic loss-of-function (LOF) variants in lipoprotein lipase (LPL) cause familial chylomicronemia syndrome (FCS). Heterozygosity for these same variants is associated with a highly variable plasma triglyceride (TG) pheno…
View article: Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom
Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom Open
The genetic architecture of FCS in the United Kingdom is complex, with a substantial proportion affected by non-LPL FCS-causing genes. It also displays a significant regional and ethnic variations.
View article: Lipoprotein Lipase: Structure, Function, and Genetic Variation
Lipoprotein Lipase: Structure, Function, and Genetic Variation Open
Biallelic rare pathogenic loss-of-function (LOF) variants in lipoprotein lipase (LPL) cause familial chylomicronemia syndrome (FCS). Heterozygosity for these same variants is associated with a highly variable plasma triglyceride (TG) pheno…
View article: A <i>DAT1</i> gene and <i>APOE</i> ε4 interaction is associated with apathy and structural brain changes in mild cognitive impairment and Alzheimer's disease
A <i>DAT1</i> gene and <i>APOE</i> ε4 interaction is associated with apathy and structural brain changes in mild cognitive impairment and Alzheimer's disease Open
Background Apathy in patients with Alzheimer's disease (AD) is associated with significant morbidity and is often one of the first neuropsychiatric symptoms to present in mild cognitive impairment (MCI). Apathy is associated with accelerat…
View article: Homocysteine, neurodegenerative biomarkers, and <i>APOE</i> ε4 in neurodegenerative diseases
Homocysteine, neurodegenerative biomarkers, and <i>APOE</i> ε4 in neurodegenerative diseases Open
INTRODUCTION Elevated plasma homocysteine (Hcy) is associated with an increased risk of developing neurodegenerative diseases; however, its relationship with the apolipoprotein E ( APOE ) ε4 allele has not been well characterized. METHODS …
View article: Development and validation of clinical criteria to identify familial chylomicronemia syndrome (FCS) in North America
Development and validation of clinical criteria to identify familial chylomicronemia syndrome (FCS) in North America Open
Given its simplicity and high specificity for distinguishing patients with FCS from MCS, the NAFCS Score could be used in lieu of - or while awaiting - genetic testing to optimize treatment.
View article: Phenotype in Individuals with Heterozygous Rare Variants in LIPC Encoding Hepatic Lipase
Phenotype in Individuals with Heterozygous Rare Variants in LIPC Encoding Hepatic Lipase Open
Hepatic lipase deficiency is a rare genetic condition caused by biallelic loss-of-function variants in the LIPC gene encoding hepatic lipase. These variants reduce or abolish the protein’s lipolytic activity, resulting in elevated plasma l…
View article: Erratum: Leiter et al. Review of Evolocumab for the Reduction of LDL Cholesterol and Secondary Prevention of Atherosclerotic Cardiovascular Disease. Reviews in Cardiovascular Medicine. 2024; 25: 190
Erratum: Leiter et al. Review of Evolocumab for the Reduction of LDL Cholesterol and Secondary Prevention of Atherosclerotic Cardiovascular Disease. Reviews in Cardiovascular Medicine. 2024; 25: 190 Open
[This corrects the article DOI: 10.31083/j.rcm2505190.].
View article: 6503 A Randomized, Placebo-Controlled Phase 3 Study of Olezarsen In Patients With Familial Chylomicronemia Syndrome: The Balance Trial
6503 A Randomized, Placebo-Controlled Phase 3 Study of Olezarsen In Patients With Familial Chylomicronemia Syndrome: The Balance Trial Open
Disclosure: E.S. Stroes: Advisory Board Member; Self; Amgen Inc, Sanofi, Novartis Pharmaceuticals, AstraZeneca, Novo Nordisk, Ionis Pharmaceuticals Inc., Merck, Daiichi Sankyo. Grant Recipient; Self; Ionis Pharmaceuticals Inc., Novo Nordis…