9,384 results match your criteria Hypercholesterolemia Familial


Non-HDL or LDL cholesterol in heterozygous familial hypercholesterolaemia: findings of the Simon Broome Register.

Curr Opin Lipidol 2020 Jun 28. Epub 2020 Jun 28.

Wolfson College, University of Oxford, Oxford, UK.

Purpose Of Review: The role of non-HDL-C in the identification and management of lipid disorders is not clearly defined, although UK guidelines recommend its wider use in assessing the need for lipid-lowering therapy and as a treatment target.

Recent Findings: We examined the implications of the use of non-HDL-C as opposed to LDL-C in 253 people with hypercholesterolaemia before treatment and 573 after treatment in whom fasting total serum cholesterol, HDL-C and LDL-C had been recorded and the diagnosis of heterozygous familial hypercholesterolemia (heFH) was investigated by genetic testing. The difference and the limits of agreement between non-HDL-C and LDL-C calculated using the Friedewald formula were assessed in those with and without heFH-causing mutations. Read More

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http://dx.doi.org/10.1097/MOL.0000000000000692DOI Listing

Lipid profile assessed in the family pediatrician's office: the COLIBRI'- SIMPeF study.

Eur J Pediatr 2020 Jul 2. Epub 2020 Jul 2.

School of Medicine and Surgery, University of Milano-Bicocca, Via Cadore 48, 20900, Monza, MB, Italy.

There is limited information on the prevalence of dyslipidemia in the Italian pediatric population. Aim of the study was to evaluate total cholesterol, high-density lipoprotein (HDL)-cholesterol and triglyceride levels, and associated factors in a large sample of Italian children, applying a micro-sampling procedure in the family pediatrician's office. In a population of 1910 children (50. Read More

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http://dx.doi.org/10.1007/s00431-020-03726-0DOI Listing

Lipoprotein(a) Cellular Uptake Ex Vivo and Hepatic Capture In Vivo Is Insensitive to PCSK9 Inhibition With Alirocumab.

JACC Basic Transl Sci 2020 Jun 6;5(6):549-557. Epub 2020 May 6.

Laboratoire Inserm UMR 1188 DéTROI, Université de La Réunion, Sainte Clotilde, France.

Lipoprotein(a) (Lp[a]) is the most common genetically inherited risk factor for cardiovascular disease. Many aspects of Lp(a) metabolism remain unknown. We assessed the uptake of fluorescent Lp(a) in primary human lymphocytes as well as Lp(a) hepatic capture in a mouse model in which endogenous hepatocytes have been ablated and replaced with human ones. Read More

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http://dx.doi.org/10.1016/j.jacbts.2020.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315184PMC

The Nordic Nutrition Recommendations 2022 - handbook for qualified systematic reviews.

Food Nutr Res 2020 18;64. Epub 2020 Jun 18.

Department of Nutrition, University of Oslo, Oslo, Norway.

Background: Systematic reviews (SRs) constitute a major part of the Nordic Nutrition Recommendations (NNRs). The step-by-step procedure used to develop SRs has evolved considerably over time and is often tailored to fit the exposure and outcomes in focus.

Objective: To describe a detailed procedure for developing qualified SRs commissioned by the NNR2022 project. Read More

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http://dx.doi.org/10.29219/fnr.v64.4404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7307435PMC

The Nordic Nutrition Recommendations 2022 - principles and methodologies.

Food Nutr Res 2020 18;64. Epub 2020 Jun 18.

Department of Nutrition, University of Oslo, Oslo, Norway.

Background: The Nordic Nutrition Recommendations (NNRs) constitute the scientific basis for national dietary reference values (DRVs) and food-based dietary guidelines (FBDGs) in the Nordic and Baltic countries.

Objective: To define principles and methodologies for the sixth edition of NNR to be published in 2022 (NNR2022).

Design: The principles and methodologies of the previous edition of NNR were used as a starting point. Read More

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http://dx.doi.org/10.29219/fnr.v64.4402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7307430PMC

The Nordic Nutrition Recommendations 2022 - structure and rationale of qualified systematic reviews.

Food Nutr Res 2020 18;64. Epub 2020 Jun 18.

Department of Nutrition, University of Oslo, Oslo, Norway.

Background: Qualified systematic reviews (SRs) will form the main basis for evaluating causal effects of nutrients or food groups on health outcomes in the sixth edition of Nordic Nutrition Recommendations to be published in 2022 (NNR2022).

Objective: To describe rationale and structure of SRs used in NNR2022.

Design: The SR methodologies of the previous edition of NNR were used as a starting point. Read More

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http://dx.doi.org/10.29219/fnr.v64.4403DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7307429PMC

Association of Bempedoic Acid Administration With Atherogenic Lipid Levels in Phase 3 Randomized Clinical Trials of Patients With Hypercholesterolemia.

JAMA Cardiol 2020 Jul 1. Epub 2020 Jul 1.

Department of Pharmacological and Biomolecular Sciences, University of Milan and IRCCS Multimedica, Milan, Italy.

Importance: Additional lipid-lowering therapy options are needed for patients who cannot achieve sufficient decreases in low-density lipoprotein cholesterol (LDL-C) levels using statins alone or for those who are statin intolerant.

Objective: To conduct a pooled analysis of phase 3 randomized clinical trials of bempedoic acid vs placebo.

Design, Setting, And Participants: This analysis pooled data from 4 double-blind, placebo-controlled randomized clinical trials conducted from 2016 to 2018. Read More

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http://dx.doi.org/10.1001/jamacardio.2020.2314DOI Listing

Low-Density Lipoprotein Apheresis in Patients with Acute Kidney Injury Due to Minimal Change Disease Requiring Acute Renal Replacement Therapy.

Int J Nephrol Renovasc Dis 2020 18;13:157-162. Epub 2020 Jun 18.

Department of Nephrology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan.

Low-density lipoprotein apheresis (LDL-A) has been developed as a therapy for familial hypercholesterolemia, but LDL-A has also been used as a general treatment for drug-resistant nephrotic syndrome (NS) due to focal segmental glomerulosclerosis (FSGS). The patients with NS due to minimal change disease (MCD) are often difficult to control effective circulating plasma volume, causes acute kidney injury (AKI), and when diuretics are not effective and the respiratory condition of patients worsens, patients require acute renal replacement therapy (ARRT). The effectiveness of LDL-A is not only reduction of serum low-density lipoprotein but also various other benefits. Read More

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http://dx.doi.org/10.2147/IJNRD.S248610DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7308121PMC

Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals.

Genet Med 2020 Jul 1. Epub 2020 Jul 1.

Department of Genetics and Genomic Sciences, Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Purpose: To measure the prevalence of medically actionable pathogenic variants (PVs) among a population of healthy elderly individuals.

Methods: We used targeted sequencing to detect pathogenic or likely pathogenic variants in 55 genes associated with autosomal dominant medically actionable conditions, among a population of 13,131 individuals aged 70 or older (mean age 75 years) enrolled in the ASPirin in Reducing Events in the Elderly (ASPREE) trial. Participants had no previous diagnosis or current symptoms of cardiovascular disease, physical disability or dementia, and no current diagnosis of life-threatening cancer. Read More

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http://dx.doi.org/10.1038/s41436-020-0881-7DOI Listing

First national registry on the effectiveness and safety of evolocumab in clinical practice in patients attended in cardiology in Spain. The RETOSS-CARDIO study.

Clin Investig Arterioscler 2020 Jun 27. Epub 2020 Jun 27.

Departamento Médico, Amgen España, Barcelona, España.

Objective: To present the first registry used to analyse the clinical profile of patients treated with evolocumab in Spain, including the effectiveness on the lipid profile and safety in the «real world» setting.

Methods: Multicentre, retrospective, and observational study of patients starting treatment with evolocumab from February 2016 to May 2017 in clinical practice in Spanish cardiology units.

Results: A total of 186 patients (mean age 60. Read More

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http://dx.doi.org/10.1016/j.arteri.2020.05.002DOI Listing

Clinical outcomes of a genomic screening program for actionable genetic conditions.

Genet Med 2020 Jun 30. Epub 2020 Jun 30.

Genomic Medicine Institute, Geisinger, Danville, PA, USA.

Purpose: Three genetic conditions-hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia-have tier 1 evidence for interventions that reduce morbidity and mortality, prompting proposals to screen unselected populations for these conditions. We examined the impact of genomic screening on risk management and early detection in an unselected population.

Methods: Observational study of electronic health records (EHR) among individuals in whom a pathogenic/likely pathogenic variant in a tier 1 gene was discovered through Geisinger's MyCode project. Read More

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http://dx.doi.org/10.1038/s41436-020-0876-4DOI Listing

Decision to reject screening for familial hypercholesterolaemia is flawed.

Arch Dis Child 2020 Jun 29. Epub 2020 Jun 29.

Dept of Paediatric and Adolescent Medicine, Princess Margaret Hospital for Children, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1136/archdischild-2020-319168DOI Listing

Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in the Brain and Relevance for Neuropsychiatric Disorders.

Front Neurosci 2020 12;14:609. Epub 2020 Jun 12.

Section on Clinical Genomics and Experimental Therapeutics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, MD, United States.

Proprotein convertase subtilisin/kexin type 9 (PCSK9) has long been studied in the liver due to its regulation of plasma low-density lipoprotein cholesterol (LDL-C) and its causal role in familial hypercholesterolemia. Although PCSK9 was first discovered in cerebellar neurons undergoing apoptosis, its function in the central nervous system (CNS) is less clear. PCSK9 has been shown to be involved in neuronal differentiation, LDL receptor family metabolism, apoptosis, and inflammation in the brain, but and studies offer contradictory findings. Read More

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http://dx.doi.org/10.3389/fnins.2020.00609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303295PMC

Comprehensive lipid and metabolite profiling in healthy adults with low and high consumption of fatty fish: a cross-sectional study.

Br J Nutr 2020 Jun 29:1-23. Epub 2020 Jun 29.

Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Norway.

Fish consumption is associated with reduced risk of cardiovascular disease (CVD), which may be partly mediated by alterations in plasma lipids, such as high-density lipoprotein cholesterol (HDL-C). However, comprehensive analyses of associations between fatty fish consumption and lipoprotein subclass profile are limited and show inconsistent results. Therefore, the aim of the present exploratory study was to investigate the association between fatty fish consumption and lipoprotein subclass particle concentrations and composition, with emphasis on HDL. Read More

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http://dx.doi.org/10.1017/S0007114520002305DOI Listing

Analysis of incidence and prevalence of cardiovascular risk factors and evaluation of their control in epidemiological survey in the Czech Republic.

Cent Eur J Public Health 2020 Jun;28(2):114-119

Third Department of Internal Medicine, Department of Endocrinology, Metabolism, First Medical Faculty, Charles University, General Faculty Hospital, Prague, Czech Republic.

Objective: The aim of this analysis was to analyze the presence of the most important cardiovascular (CV) risk factors and to discuss patterns of LDL cholesterol management in the population studied.

Methods: We enrolled 961 males, average age of 42.9 ± 4. Read More

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http://dx.doi.org/10.21101/cejph.a5730DOI Listing

The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant, c.10580 G>A: p.(Arg3527Gln).

J Clin Lipidol 2020 May 22. Epub 2020 May 22.

Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.

Background: We previously showed that patients without pathogenic variants in the LDLR and PCSK9 genes comprised approximately 40% of familial hypercholesterolemia (FH) cases.

Objective: Our aim was to identify novel causative variants in Japanese patients with FH.

Methods: Whole-exome sequencing was performed in 216 family members from 123 families without pathogenic variants in the LDLR and PCSK9 genes. Read More

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http://dx.doi.org/10.1016/j.jacl.2020.05.007DOI Listing

Statin exposure and the risk of dementia in individuals with hypercholesterolemia.

J Intern Med 2020 Jun 24. Epub 2020 Jun 24.

Department of Family Medicine, Chungbuk National University Hospital, Cheongju, Republic of Korea.

Objectives: This study aimed to examine the association between statin exposure and dementia risk in individuals with hypercholesterolemia using data from the NHIS-HEALS database between 2002 and 2015.

Methods: Subjects were classified into statin exposure and statin non-exposure groups according to medication possession ratio. Dementia was defined as those with primary diagnostic dementia codes such as F00-F03, G30, G31. Read More

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http://dx.doi.org/10.1111/joim.13134DOI Listing

Ubiquitin-mediated regulation of sterol homeostasis.

Curr Opin Cell Biol 2020 Jun 21;65:103-111. Epub 2020 Jun 21.

Cambridge Institute of Therapeutic Immunology & Infectious Disease, University of Cambridge, Cambridge, United Kingdom. Electronic address:

Cholesterol is an essential component of mammalian membranes, and its homeostasis is strictly regulated, with imbalances causing atherosclerosis, Niemann Pick disease, and familial hypercholesterolemia. Cellular cholesterol supply is mediated by LDL-cholesterol import and de novo cholesterol biosynthesis, and both pathways are adjusted to cellular demand by the cholesterol-sensitive SREBP2 transcription factor. Cholesterol homeostasis is modulated by a wide variety of metabolic pathways and the ubiquitination machinery, in particular E3 ubiquitin ligases. Read More

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http://dx.doi.org/10.1016/j.ceb.2020.04.010DOI Listing

Bempedoic acid, an inhibitor of ATP citrate lyase for the treatment of hypercholesterolemia: early indications and potential.

Expert Opin Investig Drugs 2020 Jun 21:1-8. Epub 2020 Jun 21.

Imperial Centre for Cardiovascular Disease Prevention, School of Public Health, Imperial College London , London, UK.

Introduction: The lowering of low-density lipoprotein cholesterol (LDL-C), regardless of the method used, results in a reduction of cardiovascular events. Bempedoic acid is a new and until now, the only approved adenosine triphosphate citrate lyase inhibitor that works through the cholesterol-synthesis pathway (similar to statins) that leads to a safe and effective reduction in LDL-C.

Areas Covered: We review clinical phase 2 and 3 studies on bempedoic acid's lipid-lowering effect and approved indications. Read More

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http://dx.doi.org/10.1080/13543784.2020.1778668DOI Listing

Patient with nasal congestion, purulent discharge, facial pain and hyposmia.

Cytopathology 2020 Jun 19. Epub 2020 Jun 19.

Department of Family and Community Medicine, La Paz University Hospital.Paseo de la Castellana, 261, 28046, Madrid, Spain.

A 46-year-old female presented at the outpatient clinic with nasal congestion, purulent discharge, facial pain with pressure sensation, headache, hyposmia, and fever (38.2 Cº) that had persisted for four months. This symptomatology was worse at night or upon awakening in the morning. Read More

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http://dx.doi.org/10.1111/cyt.12875DOI Listing

Exploring Proprotein Convertase Subtilisin/Kexin 9 (PCSK9) Autoproteolysis Process by Molecular Simulations: Hints for Drug Design.

ChemMedChem 2020 Jun 17. Epub 2020 Jun 17.

University of Milano, Department of Pharmaceutical Sciences, Via L. Mangiagalli 25, 20133, Milano, ITALY.

Proprotein convertase subtilisin/kexin 9 (PCSK9) is a notable target for the treatment of hypercholesterolemia because it regulates the population of the low-density lipoprotein receptor (LDLR) on liver cells. The PCSK9 zymogen is a serine protease that spontaneously undergoes a double self-cleavage step. The available X-ray structures depict the PCSK9 mature state, but the atomic details of the zymogen state of the enzyme are still unknown. Read More

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http://dx.doi.org/10.1002/cmdc.202000431DOI Listing

Lomitapide-a Microsomal Triglyceride Transfer Protein Inhibitor for Homozygous Familial Hypercholesterolemia.

Curr Atheroscler Rep 2020 Jun 18;22(8):38. Epub 2020 Jun 18.

Extracorporeal Therapeutic Techniques Unit, Lipid Clinic and Atherosclerosis Prevention Centre, Regional Centre (Lazio) for Rare Diseases, Immunohematology and Transfusion Medicine, Department of Molecular Medicine, "Sapienza" University of Rome, "Umberto I" Hospital, Rome, Italy.

Purpose Of Review: Homozygous familial hypercholesterolemia (HoFH) is a rare, genetic condition characterized by high levels of Low density lipoprotein cholesterol (LDL-C); overt, early-onset atherosclerotic cardiovascular disease (ASCVD); and premature cardiovascular events and mortality. Lomitapide is a first-in-class microsomal triglyceride transfer protein inhibitor for the treatment of HoFH. This review provides an update on data emerging from real-world studies of lomitapide following on from its pivotal phase 3 clinical trial in HoFH. Read More

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http://dx.doi.org/10.1007/s11883-020-00858-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303073PMC

Cholesterol metabolism in mice models of genetic hypercholesterolemia.

J Physiol Biochem 2020 Jun 17. Epub 2020 Jun 17.

Laboratorio de Lipides, LIM-10, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av. Dr. Arnaldo, 455 - room 3305, São Paulo, SP, CEP 01246-000, Brazil.

Monogenic familial hypercholesterolemia is characterized by impaired cellular uptake of apolipoprotein B containing lipoproteins. However, its consequences on whole-body cholesterol metabolism are unclear. We investigated cholesterol metabolism in wild-type mice (control) and in knockout (KO) mice for the low-density lipoprotein receptor (LDLR-KO) and for apolipoprotein E (apoE-KO) containing the genetic basis of the C57BL/6J mice, under a cholesterol-free diet. Read More

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http://dx.doi.org/10.1007/s13105-020-00753-1DOI Listing

Highlights of Studies in Cardiovascular Disease Prevention Presented at the 2020 American College of Cardiology Annual Scientific Session.

Curr Atheroscler Rep 2020 Jun 18;22(8):32. Epub 2020 Jun 18.

Section of Cardiology, Baylor College of Medicine, Houston, TX, USA.

Purpose Of Review: The review highlights selected studies related to cardiovascular disease (CVD) prevention that were presented at the American College of Cardiology 2020 Virtual Scientific Session (ACC.20)/World Cardiology Congress (WCC).

Recent Findings: The studies reviewed include clinical trials on the efficacy and safety of alirocumab (Study in Participants with Homozygous Familial Hypercholesterolemia [ODYSSEY HoFH]) and evinacumab in the treatment of homozygous familial hypercholesterolemia (HoFH); Evaluating the Efficacy of E-cigarettes for Smoking Cessation (E3); the use of renal denervation in the treatment of hypertension (SPYRAL HTN-OFF MED PIVOTAL); and the assessment of vericiguat in the treatment of heart failure (A Study of Vericiguat in Participants with Heart Failure with Reduce Ejection Fraction [VICTORIA]). Read More

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http://dx.doi.org/10.1007/s11883-020-00856-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7301047PMC

Accelerated miniature swine models of advanced atherosclerosis: A review based on morphology.

Cardiovasc Pathol 2020 May 16;49:107241. Epub 2020 May 16.

Cardiovascular Insititute, Dongzhimen Hospital of Beijing University of Chinese Medicine, Beijing, China. Electronic address:

In order to accelerate development of atherosclerosis(AS) in miniature swine models, varieties of strategies and methods have been explored. In addition to traditional methods such as high cholesterol feeding and balloon injury, new methods such as familial hypercholesterolemia induced by gene editing and intramural injection have been applied in recent years. Although it has been claimed that these methods have successfully aggravated lesion areas and stenosis, lesion features induced by different strategies have shown heterogeneity in morphology. Read More

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http://dx.doi.org/10.1016/j.carpath.2020.107241DOI Listing

Aortic Valve-Sparing Surgical Treatment of Supravalvar Aortic Stenosis in a 65-Year-Old Adult.

Korean J Thorac Cardiovasc Surg 2020 Jun;53(3):144-146

Department of Thoracic and Cardiovascular Surgery, Korea University Ansan Hospital, Korea University College of Medicine, Ansan, Korea.

Supravalvar aortic stenosis (SVAS) is a rare congenital cardiac disease that usually co-occurs with Williams syndrome. In the adult population, a few SVAS cases have been reported in patients affected by homozygous familial hypercholesterolemia. However, because of the rarity of this disease entity, there is no standard surgical treatment for SVAS. Read More

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http://dx.doi.org/10.5090/kjtcs.2020.53.3.144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7287217PMC

Treatment gaps and mortality among patients with familial hypercholesterolemia and cardiovascular disease: a 4-year follow-up study.

Eur J Prev Cardiol 2020 Jun 15:2047487320932329. Epub 2020 Jun 15.

Department of Cardiology, Lady Davis Carmel Medical Center, Israel.

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http://dx.doi.org/10.1177/2047487320932329DOI Listing

The history of proprotein convertase subtilisin kexin-9 inhibitors and their role in the treatment of cardiovascular disease.

Ther Adv Chronic Dis 2020 30;11:2040622320924569. Epub 2020 May 30.

Department of Chemical Pathology, St Thomas' Hospital, Westminster Bridge Road, London, SE1 7EH, UK.

A consensus has formed based on epidemiological studies and clinical trials that intervention to reduce low density lipoprotein cholesterol (LDL-C) will reduce cardiovascular disease (CVD) events. This has progressively reduced the thresholds for intervention and targets for treatment. Whist statins are sufficient for many people in primary prevention, they only partially achieve the newer targets of secondary prevention for established CVD. Read More

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http://dx.doi.org/10.1177/2040622320924569DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268157PMC

Homozygous familial hypercholesterolaemia: New hope for getting patients to goal?

Authors:
Jane K Stock

Atherosclerosis 2020 May 25. Epub 2020 May 25.

European Atherosclerosis Society, World Trade Center Göteborg, Mässans Gata 10, SE-412 51, Göteborg, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2020.04.016DOI Listing

The characteristics of risk factors in Chinese young women with acute coronary syndrome.

BMC Cardiovasc Disord 2020 Jun 12;20(1):290. Epub 2020 Jun 12.

The Center of Cardiology, Affiliated Hospital of Beihua University, Jilin, 132011, Jilin, People's Republic of China.

Background: In recent years, the prevalence rate of acute coronary syndrome (ACS) in Chinese young women has been increasing significantly, becoming one of the main causes of death in young females. A matter of constant concern is what is the characteristics and differences in risk factors between young women with ACS and without ACS. This study aimed to investigate the characteristics and difference of risk factors in Chinese young women with ACS and to provide references for ACS prevention and treatment. Read More

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http://dx.doi.org/10.1186/s12872-020-01577-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291564PMC

Long-term outcomes after acute myocardial infarction in patients with familial hypercholesterolemia: The French registry of Acute ST-elevation and non-ST-elevation Myocardial Infarction program.

J Clin Lipidol 2020 May - Jun;14(3):352-360.e6. Epub 2020 Apr 8.

Department of Pharmacology, Hôpital St Antoine, Université Pierre et Marie Curie, Paris, France.

Background: Patients with familial hypercholesterolemia (FH) are prone to develop acute myocardial infarction (AMI) at a younger age.

Objectives: The aim of the present study was to assess 5-year outcomes after AMI according to the presence of FH in a large multicenter cohort of patients.

Methods: The French registry of Acute ST-elevation and non-ST-elevation Myocardial Infarction consists of nationwide surveys recruiting patients over a 1- to 2-month period every 5 years. Read More

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http://dx.doi.org/10.1016/j.jacl.2020.03.008DOI Listing

Health economic evaluation of screening and treating children with familial hypercholesterolemia early in life: Many happy returns on investment?

Atherosclerosis 2020 May 20;304:1-8. Epub 2020 May 20.

The University of Western Australia, Faculty of Health and Medical Sciences, Internal Medicine, Perth, Australia.

Background And Aims: There are no studies that have specifically investigated the cost-effectiveness of cascade screening of children for heterozygous familial hypercholesterolemia (FH) and treatment of affected individuals with statins to prevent coronary heart disease (CHD). This study explores the cost-effectiveness of this strategy from the perspective of the Australian public healthcare system.

Methods: A lifetime Markov model with four health states (Alive without CHD, Alive with CHD, Dead from fatal CHD, and Dead from other causes) was developed to simulate the progression of ten-year-old children screened for FH and treated immediately with statins if found to have FH. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2020.05.007DOI Listing

Familial Hypercholesterolemia in a Healthy Elderly Population.

Circ Genom Precis Med 2020 Jun 10. Epub 2020 Jun 10.

Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1161/CIRCGEN.120.002938DOI Listing

Can genetic testing help in the management of dyslipidaemias?

Curr Opin Lipidol 2020 Jun 8. Epub 2020 Jun 8.

Departments of Biochemistry and Medicine, and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

Purpose Of Review: The aim of this study was to evaluate the potential role of genetic testing, particularly next-generation DNA sequencing, in diagnosing and managing dyslipidaemias, particularly monogenic dyslipidaemias.

Recent Findings: Targeted DNA sequencing of the genes causing monogenic dyslipidaemias is becoming more accessible. Some societies' position statements advise selective utilization of DNA testing in combination with clinical and biochemical assessment. Read More

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http://dx.doi.org/10.1097/MOL.0000000000000690DOI Listing
June 2020
5.656 Impact Factor

Evidence for improved survival with treatment of homozygous familial hypercholesterolemia.

Curr Opin Lipidol 2020 Jun 8. Epub 2020 Jun 8.

Research Institute of the McGill University Health Centre, Royal Victoria Hospital, Montreal, Quebec.

Purpose Of Review: Homozygous familial hypercholesterolemia (HoFH) is an orphan disease caused by biallelic mutations at the LDL receptor (LDLR) gene, with a prevalence estimated at 1 : 250 000 to 1 : 630 000. HoFH is characterized by extremely elevated plasma levels of LDL-C greater than 10 mmol/l (>387 mg/dl), tendinous and cutaneous xanthomas in youth and premature atherosclerotic cardiovascular disease (ASCVD). The expected prevalence varies from country to country depending on the presence of founder effects, genetic probability and life expectancy. Read More

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http://dx.doi.org/10.1097/MOL.0000000000000686DOI Listing

Comments: "The use of high-resolution MRI to detect thrombosis and lipid-rich carotid artery plaques in a patient with homozygous familial hypercholesterolemia: a case report".

Rev Assoc Med Bras (1992) 2020 Mar;66(3):385

. College of experience industry, Anhui polytechnic university, Wuhu, Anhui 241000, China.

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http://dx.doi.org/10.1590/1806-9282.66.3.385DOI Listing

Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association.

J Clin Lipidol 2020 May 7. Epub 2020 May 7.

Professor of Medicine and Biochemistry, Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address:

The genetic basis for more than 2 dozen monogenic dyslipidemias has largely been defined. Genetic technologies, such as DNA sequencing, can detect both rare and common DNA variants underlying dyslipidemias, and these methods are increasingly available. Although patients with extreme abnormalities in low-density lipoprotein cholesterol, triglycerides, or high-density lipoprotein cholesterol may be considered for genetic testing, it is only in a minority of patients that the results will alter treatment or outcomes. Read More

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http://dx.doi.org/10.1016/j.jacl.2020.04.011DOI Listing

When a "normal" cholesterol level is not normal: Exposing an unusual presentation of familial hypercholesterolemia.

J Clin Lipidol 2020 May 12. Epub 2020 May 12.

Department of Medicine, University of Miami Hospital/Jackson Memorial Hospital, Miami, FL, USA.

A classic finding in patients with familial hypercholesterolemia is the presence of markedly elevated levels of total and low-density lipoprotein cholesterol (LDL-C) with an LDL-C concentration of 190 mg/dL or greater. However, severe hypercholesterolemia is not inevitably present, and many patients who carry this diagnosis may have lower LDL-C levels. This case history describes a young woman whose mother and brother met clinical and genetic criteria for heterozygous familial hypercholesterolemia, but who had only a mild elevation in LDL-C, falling to <130 mg/dL after dietary intervention. Read More

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http://dx.doi.org/10.1016/j.jacl.2020.05.001DOI Listing

Eligibility for PCSK-9 inhibitors treatment in acute coronary syndrome, chronic coronary artery disease and outpatient dyslipidemic patients.

Atherosclerosis 2020 Jun 15;303:29-35. Epub 2020 May 15.

1st Department of Cardiology, Medical School, National and Kapodistrian University of Athens, Hippokration Hospital, Athens, Greece.

Background And Aims: We aimed to investigate potential eligibility for proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitors in patients with coronary artery disease and dyslipidaemia according to patient characteristics and variable criteria.

Methods: We prospectively enrolled 2000 patients (acute coronary syndrome = 407, chronic coronary artery disease inpatients = 1087, outpatient Lipid's clinic = 506). To calculate PCSK-9 inhibitors real-world eligibility, a proprietary adjustable software was developed, which stores data and patient characteristics and can determine eligibility depending on different criteria. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2020.04.024DOI Listing

LDL Receptor Regulates the Reverse Transport of Macrophage-Derived Unesterified Cholesterol via Concerted Action of the HDL-LDL Axis: Insight from Mouse Models.

Circ Res 2020 Jun 4. Epub 2020 Jun 4.

Biochemistry, IIB Sant Pau, SPAIN.

The HDL-mediated stimulation of cellular cholesterol efflux initiates the reverse cholesterol pathway from macrophages (m-RCT), which ends in the fecal excretion of macrophage-derived unesterified cholesterol (UC). Early studies established that LDL particles could act as efficient intermediate acceptors of cellular-derived UC, thereby preventing the saturation of HDL particles and facilitating their cholesterol efflux capacity (CEC). However, the capacity of LDL to act as a plasma cholesterol reservoir and its potential impact in supporting the m-RCT pathway in vivo both remain unknown. Read More

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http://dx.doi.org/10.1161/CIRCRESAHA.119.316424DOI Listing

Clinical Pharmacology of Statins: an Update.

Curr Atheroscler Rep 2020 Jun 3;22(7):26. Epub 2020 Jun 3.

Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.

Purpose Of Review: Statins represent the cornerstone for the treatment of hypercholesterolemia, although muscle-related side effects and dysregulation of glucose metabolism have strongly limited their adherence and compliance especially in primary prevention therapy. The purpose of the present review is to provide the most recent evidence of the efficacy and safety of statins in monotherapy or combination with new lipid-lowering drugs.

Recent Findings: Recent "life-long" analysis conducted on young familial hypercholesterolemia patients, elderly hypocholesterolemic subjects, and from a 20-year follow-up of randomized controlled trial (RCT) have been published confirming that the cardiovascular benefits of statin therapy, in patients for whom it is recommended by current guidelines, greatly outweigh the risks of side effects. Read More

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http://dx.doi.org/10.1007/s11883-020-00844-wDOI Listing

Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners.

Glob Heart 2020 Feb 28;15(1):19. Epub 2020 Feb 28.

Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah Al Mukarramah, SA.

Background: Familial hypercholesterolemia (FH) is an autosomal dominant inherited genetic disorder and results in the development of coronary artery disease (CAD). Clinical diagnosis of homozygous HH patients is usually straightforward because persistent hypercholesterolemia can produce xanthoma and corneal arcus. However, xanthoma may also be misdiagnosed as skin lesions and could therefore be mistreated. Read More

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http://dx.doi.org/10.5334/gh.759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218775PMC
February 2020

Small interfering RNA to proprotein convertase subtilisin/kexin type 9: transforming LDL-cholesterol-lowering strategies.

Curr Opin Lipidol 2020 Jun 1. Epub 2020 Jun 1.

Imperial Centre for Cardiovascular Disease Prevention, School of Public Health, Imperial College London, London, UK.

Purpose Of Review: Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibition is a new strategy to reduce LDL cholesterol (LDL-C), that is currently pursued by mAbs. A promising novel approach to target PCSK9 is using small interfering RNAs to inhibit hepatic PCSK9 synthesis. The first small interfering RNA developed for this purpose is inclisiran. Read More

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http://dx.doi.org/10.1097/MOL.0000000000000691DOI Listing

In Reply: Familial hypercholesterolemia: Clarifications.

Cleve Clin J Med 2020 06;87(6):320

Heart and Vascular Institute Cleveland Clinic.

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http://dx.doi.org/10.3949/ccjm.87c.06002DOI Listing

Familial hypercholesterolemia: Clarifications.

Authors:
Taher Modarressi

Cleve Clin J Med 2020 06;87(6):320

Diabetes & Endocrine Associates of Hunterdon Flemington, NJ 08822.

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http://dx.doi.org/10.3949/ccjm.87c.06001DOI Listing

Intravascular ultrasound imaging of isolated and non aorto-ostial coronary Takayasu arteritis: a case report.

BMC Cardiovasc Disord 2020 Jun 1;20(1):260. Epub 2020 Jun 1.

Department of Cardiovascular Medicine, Fukushima Medical University, 1 Hikarigaoka Fukushima, Fukushima, 960-1247, Japan.

Background: Isolated coronary Takayasu arteritis is a rare form of ischemic heart disease that typically appears as an aorto-ostial lesion. Although several vascular imaging modalities including ultrasonography, computed tomographic angiography, magnetic resonance angiography or catheter angiography, play crucial roles for diagnosing Takayasu arteritis, the intravascular ultrasound imaging of Takayasu arteritis is not well studied.

Case Presentation: A 55-year-old woman who was diagnosed with heterozygous familial hypercholesterolemia underwent coronary angiography due to effort angina, which showed ostial left anterior descending coronary artery (LAD) stenosis. Read More

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http://dx.doi.org/10.1186/s12872-020-01541-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268410PMC