Article
Medicine, General & Internal
Radoslaw Motkowski, Pawel Abramowicz, Jolanta Kubalska, Bozena Mikoluc, Jerzy Konstantynowicz
Summary: This retrospective cohort study presented the 20-year experience of comprehensive care for pediatric patients with familial hypercholesterolemia in a single academic center. The study demonstrated that statin treatment in children with FH is highly effective and safe.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, Research & Experimental
Zhelong Li, Ping Zhao, Yajun Zhang, Jia Wang, Chen Wang, Yunnan Liu, Guodong Yang, Lijun Yuan
Summary: The study demonstrated that exosome-mediated delivery of Ldlr mRNA effectively restored receptor expression in Ldlr(-/-) mice, treating the disorders and reducing atherosclerotic plaque formation. Exo(Ldlr) treatment significantly decreased lipid deposition in the liver and lowered LDL-cholesterol levels in the treated mice, providing a new therapeutic approach for FH patients and managing atherosclerosis.
Article
Hematology
Graziella E. Ronsein, Tomas Vaisar, W. Sean Davidson, Karin E. Bornfeldt, Jeffrey L. Probstfield, Kevin D. O'Brien, Xue-Qiao Zhao, Jay W. Heinecke
Summary: Niacin therapy does not reduce cardiovascular events in statin-treated subjects, despite increasing HDL-C levels and decreasing LDL-C and triglyceride levels. The addition of niacin to statin therapy results in elevated levels of multiple HDL proteins linked to increased atherosclerotic risk, potentially compromising the cardioprotective effects associated with higher HDL-C levels and lower levels of LDL-C and triglycerides.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Sayaka Funabashi, Yu Kataoka, Mika Hori, Masatsune Ogura, Takahito Doi, Teruo Noguchi, Mariko Harada-Shiba
Summary: The study found that elevated Lp(a) levels in HeFH patients predicted the occurrence of polyVD. This suggests that patients with HeFH and Lp(a) >= 50 mg/dL are at high risk and require meticulous screening of systemic vascular beds.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Genetics & Heredity
Akos Nemeth, Balint Daroczy, Lilla Juhasz, Peter Fulop, Mariann Harangi, Gyoergy Paragh
Summary: The association between serum Lp(a) levels and atherosclerotic vascular diseases in Hungarian FH patients may be influenced by other risk factors that mask the deleterious effects of Lp(a), leading to the inability to find significant correlations.
FRONTIERS IN GENETICS
(2022)
Review
Medicine, General & Internal
Fahad Alnouri, Raul D. Santos
Summary: Familial hypercholesterolemia (FH) is associated with an increased risk of atherosclerosis. In heterozygous FH, cardiovascular risk is not only determined by high cholesterol levels but also by other biomarkers and genes. Specific atherosclerosis risk scores for FH and imaging of subclinical coronary atherosclerosis can help identify high-risk individuals.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Cell Biology
Hsin Tung, Hsueh-Ju Lin, Po-Lin Chen, Tsai-Jung Lu, Pei-Pei Jhan, Jun-Peng Chen, Yi-Ming Chen, Chen-Chin Wu, Yung-Yang Lin, Tzu-Hung Hsiao
Summary: This study suggests that ischemic stroke patients carrying FH pathogenic variants are more likely to experience large artery stroke and transient ischemic attack. IMT examination may be useful in screening for FH in hypercholesterolemic stroke patients.
Article
Medicine, General & Internal
Liv J. Mundal, Jannicke Igland, Karianne Svendsen, Kirsten B. Holven, Trond P. Leren, Kjetil Retterstol
Summary: This study aimed to investigate the association between familial hypercholesterolemia (FH) and risk of dementia, as well as the relationship between statin use and dementia risk in individuals with FH. The findings showed that individuals with FH did not have an excess risk of dementia compared to age-matched and sex-matched controls, and there was no association between statin use and dementia risk in patients with FH.
Article
Biochemistry & Molecular Biology
Kevin Chemello, Javier Garcia-Nafria, Antonio Gallo, Cesar Martin, Gilles Lambert, Dirk Blom
Summary: Familial hypercholesterolemia is a common genetic disorder characterized by high levels of LDL-C and increased risk of premature cardiovascular events. Research focuses on clinical phenotypes, genetic variants, and therapeutic approaches.
JOURNAL OF LIPID RESEARCH
(2021)
Review
Biochemistry & Molecular Biology
Francesca Mainieri, Veronica Maria Tagi, Francesco Chiarelli
Summary: Familial hypercholesterolemia is a common genetic disorder that leads to early development of cardiovascular disease and premature death. Early diagnosis and aggressive treatment are crucial for preventing complications. Diagnosis is mainly based on clinical and genetic factors, and widespread screening programs are recommended for early detection. Treatment includes lifestyle changes, standard medications, and new pharmacological agents, which show promising results for severe cases and patients who cannot tolerate other treatments.
Article
Medicine, General & Internal
Georgios Benetos, Spyros Galanakos, Iosif Koutagiar, Ioannis Skoumas, Georgios Oikonomou, Maria Drakopoulou, Maria Karmpalioti, Vasiliki Katsi, Costas Tsioufis, Konstantinos Toutouzas
Summary: This study found that hypolipidemic therapy (including simvastatin or simvastatin plus ezetimibe) significantly reduced carotid artery temperatures in patients with familial hyperlipidemia syndromes, while there was no significant change in untreated patients.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Hematology
Xin Bi, Sylvia Stankov, Paul C. Lee, Ziyi Wang, Xun Wu, Li Li, Yi-An Ko, Lan Cheng, Hanrui Zhang, Nicholas J. Hand, Daniel J. Rader
Summary: ILRUN is an important regulator of lipoprotein metabolism in mice and plays a role in the development of atherosclerosis. It affects atherosclerosis through both plasma lipid-dependent and lipid-independent mechanisms. These findings provide new insights into the pathogenesis of coronary artery disease.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Baoshen He, Shijia Kang, Zhen Chen, Xiao Liu, Jinkai Wang, Xuedan Li, Xiaomin Liu, Ling Zheng, Mengcheng Luo, Yan Wang
Summary: Hypercholesterolemia has a strong genetic component, with certain monogenic genes identified for familial hypercholesterolemia. However, in the general population, most individuals with high LDL cholesterol levels do not have known mutations associated with familial hypercholesterolemia. Whole-exome sequencing has identified numerous variants, but the functional consequences of these variants remain largely unknown.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
(2021)
Review
Peripheral Vascular Disease
Maya S. Safarova, Patrick M. Moriarty
Summary: This review examines the effectiveness of lipoprotein apheresis in treating familial hypercholesterolemia (FH) and elevated lipoprotein(a) (Lp(a)). The findings suggest that lipoprotein apheresis can significantly reduce the risk of cardiovascular disease and improve blood flow and heart function.
CURRENT ATHEROSCLEROSIS REPORTS
(2023)
Review
Pharmacology & Pharmacy
Negin Parsamanesh, Omid Kooshkaki, Haleh Siami, Raul D. Santos, Tannaz Jamialahmadi, Amirhossein Sahebkar
Summary: Familial hypercholesterolemia (FH) is a hereditary illness characterized by high risk of early cardiovascular disease and elevated levels of LDL cholesterol. FH is caused by mutations in genes such as LDL receptor, apolipoprotein B, PCSK9, and LDLR adaptor protein 1. Traditional lipid-lowering therapies have limited effectiveness for FH, especially in homozygous patients. This review discusses gene delivery, gene editing, and stem cell techniques used to correct FH-causing gene variations, including the use of CRISPR/Cas9 gene editing technology.
DRUG DISCOVERY TODAY
(2023)
Editorial Material
Pathology
Erin O. Jacob, Robert A. Hegele
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(2023)
Article
Pharmacology & Pharmacy
Shehan D. Perera, Jian Wang, Adam D. McIntyre, Jacqueline S. Dron, Robert A. Hegele, Cert Endo
Summary: In this study, the longitudinal triglyceride (TG) phenotype of individuals with heterozygous pathogenic LPL variants was evaluated. The results showed that TG levels varied widely among patients and within the same patient. Most patients exhibited mild-to-moderate and severe hypertriglyceridemia (HTG), and the severity likely depended on secondary factors.
JOURNAL OF CLINICAL LIPIDOLOGY
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Robert A. Hegele
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Pei Jun Zhao, Robert A. Hegele
Summary: The Canadian Society of Clinical Chemists has recommended adopting the more accurate Sampson/US NIH LDL-C equation for cardiovascular disease prevention. Based on the comparison of survey data, it is estimated that approximately 123,000 Canadians who are already taking cholesterol-lowering medications may need to intensify treatment due to the equation change.
Editorial Material
Cardiac & Cardiovascular Systems
Robert A. Hegele
EUROPEAN HEART JOURNAL
(2023)
Review
Cardiac & Cardiovascular Systems
Marina Cuchel, Frederick J. Raal, Robert A. Hegele, Khalid Al-Rasadi, Marcello Arca, Maurizio Averna, Eric Bruckert, Tomas Freiberger, Daniel Gaudet, Mariko Harada-Shiba, Lisa C. Hudgins, Meral Kayikcioglu, Luis Masana, Klaus G. Parhofer, Jeanine E. Roeters van Lennep, Raul D. Santos, Erik S. G. Stroes, Gerald F. Watts, Albert Wiegman, Jane K. Stock, Lale S. Tokgoezoglu, Alberico L. Catapano, Kausik K. Ray
Summary: This 2023 statement provides updated clinical guidance for the management of homozygous familial hypercholesterolaemia (HoFH), including criteria for diagnosis, genetic testing interpretation, and treatment recommendations. The statement emphasizes the importance of considering both phenotype and genotype in the diagnosis of HoFH, with a LDL-C level >10 mmol/L (>400 mg/dL) being indicative of the condition. Combination therapy targeting LDL-C, including the use of novel therapies like proprotein convertase subtilisin/kexin type 9 inhibitors, is recommended to achieve LDL-C goals and reduce the need for lipoprotein apheresis. To improve HoFH care globally, the statement recommends the implementation of national screening programs, education to increase awareness, and management guidelines adapted to local healthcare systems.
EUROPEAN HEART JOURNAL
(2023)
Review
Pharmacology & Pharmacy
Catherine M. Spagnuolo, Robert A. Hegele
Summary: Mild-to-moderate hypertriglyceridemia (HTG) is associated with atherosclerotic cardiovascular disease (ASCVD) and elevated triglyceride (TG) levels. Apolipoprotein C-III (apo C-III) inhibition is a promising treatment approach for reducing TG levels and ASCVD risk. Biologic agents like volanesorsen, olezarsen, and ARO-APOC3 significantly reduce apo C-III and TG levels, but further study is needed on their impact on cardiovascular outcomes.
EXPERT OPINION ON PHARMACOTHERAPY
(2023)
Article
Cardiac & Cardiovascular Systems
Gerald F. Watts, Samuel S. Gidding, Robert A. Hegele, Frederick J. Raal, Amy C. Sturm, Laney K. Jones, Mitchell N. Sarkies, Khalid Al-Rasadi, Dirk J. Blom, Magdalena Daccord, Sarah D. de Ferranti, Emanuela Folco, Peter Libby, Pedro Mata, Hapizah M. Nawawi, Uma Ramaswami, Kausik K. Ray, Claudia Stefanutti, Shizuya Yamashita, Jing Pang, Gilbert R. Thompson, Raul D. Santos
Summary: Familial hypercholesterolaemia (FH) is a preventable cause of premature coronary artery disease and death. This guidance article from the International Atherosclerosis Society provides a comprehensive overview of FH care that includes recommendations on the detection and management of patients with FH, as well as strategies to maximize implementation.
NATURE REVIEWS CARDIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Ahsen Chaudhry, Mark Trinder, Kristin Vesely, Lubomira Cermakova, Linda Jackson, Jian Wang, Robert A. Hegele, Liam R. Brunham
Summary: A study found that approximately 0.9% of patients clinically diagnosed with heterozygous familial hypercholesterolemia (HeFH) actually had homozygous familial hypercholesterolemia (HoFH) based on genetic diagnosis. These patients had higher levels of low-density lipoprotein cholesterol and a higher prevalence of premature cardiovascular disease.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2023)
Review
Cardiac & Cardiovascular Systems
Iulia Iatan, G. B. John Mancini, Eunice Yeoh, Robert A. Hegele
Summary: Statins are important for reducing the risk of atherosclerotic cardiovascular disease, but they are underutilized due to concerns about side effects. Statin-associated muscle symptoms are a common cause of intolerance and discontinuation, leading to increased risk of adverse cardiovascular outcomes.
EXPERT REVIEW OF CARDIOVASCULAR THERAPY
(2023)
Article
Health Care Sciences & Services
Jean Lachaine, Jean -Nicolas Charron, Jean C. Gregoire, Robert A. Hegele, Lawrence A. Leiter
Summary: In a cost-utility analysis conducted from a Canadian healthcare payer perspective, icosapent ethyl (IPE) was found to be a cost-effective treatment option for statin-treated patients with elevated triglycerides. Compared to placebo, IPE was associated with a higher number of quality-adjusted life years (QALYs) and an incremental cost-effectiveness ratio (ICER) of $42,797/QALY gained. This analysis highlights the importance of IPE in reducing ischemic cardiovascular events in this patient population and its cost-effectiveness in Canada.
CLINICOECONOMICS AND OUTCOMES RESEARCH
(2023)
Review
Endocrinology & Metabolism
Praneet K. K. Gill, Robert A. A. Hegele
Summary: This article reviews the causes and consequences of hypocholesterolemia resulting from genetic and non-genetic factors, and discusses therapeutic strategies inspired by genetic hypocholesterolemia.
EXPERT REVIEW OF ENDOCRINOLOGY & METABOLISM
(2023)
Editorial Material
Hematology
Ann Marie Schmidt, Mary G. Sorci-Thomas, Yabing Chen, Robert A. Hegele
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Robert A. Hegele
Article
Genetics & Heredity
Shengjie Ying, Tracy Heung, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Yue Yin, Christina Blagojevic, Zhaolei Zhang, Robert A. Hegele, Ryan K. C. Yuen, Anne S. Bassett
Summary: Elevated TG levels are modifiable risk factors for cardiovascular disease, and this study found that the TG-PRS, along with sex and BMI, were significant predictors of TG levels, especially in individuals with obesity. A combination of TG-PRS, sex, and BMI showed the greatest accuracy in predicting mild-moderate hypertriglyceridemia.
BMC MEDICAL GENOMICS
(2023)