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    Genetics, Lifestyle, and Low-Density Lipoprotein Cholesterol in Young and Apparently Healthy Women.
    Circulation 2018 Feb;137(8):820-831
    Department of Pediatrics, Section Molecular Genetics, University Medical Center Groningen, University of Groningen, the Netherlands (J.-W.B., A.R., P.L., J.A.K.)
    Background: Atherosclerosis starts in childhood but low-density lipoprotein cholesterol (LDL-C), a causal risk factor, is mostly studied and dealt with when clinical events have occurred. Women are usually affected later in life than men and are underdiagnosed, undertreated, and understudied in cardiovascular trials and research. This study aims at a better understanding of lifestyle and genetic factors that affect LDL-C in young women. Read More

    miR-505-3p controls chemokine receptor up-regulation in macrophages: role in familial hypercholesterolemia.
    FASEB J 2018 Feb;32(2):601-612
    Catalan Institute of Cardiovascular Sciences (ICCC), Sant Pau Biomedical Research Institute (IIB-Sant Pau) Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Hospital de Sant Pau, Barcelona, Spain.
    Familial hypercholesterolemia (FH) conveys a high risk of premature atherosclerosis as a result of lifelong exposure to high LDL cholesterol levels that are not fully reduced by standard-of-care lipid-lowering treatment. Inflammatory mediators have played a role in the progression of atherosclerotic lesions. Here, we investigated whether innate immunity cells in patients with FH have a specific proinflammatory phenotype that is distinct from that of cells in normal participants. Read More

    Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected.
    Indian J Pediatr 2018 Feb 15. Epub 2018 Feb 15.
    Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.
    Objective: Familial Hypercholesterolemia (FH) is an inherited disorder of lipid metabolism characterized by very high low density lipoprotein (LDL) cholesterol since birth, resulting in premature atherosclerosis and coronary artery disease (CAD). Cascade screening of children and family members of proven FH individuals can identify more subjects who have high LDL cholesterol or the family mutation and appropriate intervention can reduce their risk of atherosclerosis and prevent its complications.

    Methods: Cascade screening by molecular testing, was carried out in 133 family members, comprising 24 children, of 31 probands with FH having a pathogenic mutation in LDLR/ApoB gene. Read More

    Bempedoic Acid Lowers Low-Density Lipoprotein Cholesterol and Attenuates Atherosclerosis in Low-Density Lipoprotein Receptor-Deficient (and) Yucatan Miniature Pigs.
    Arterioscler Thromb Vasc Biol 2018 Feb 15. Epub 2018 Feb 15.
    From the Robarts Research Institute (A.C.B., D.E.T., B.G.S., J.Y.E., C.G.S., J.G.P., M.W.H.), Department of Biochemistry (A.C.B., J.G.P., M.W.H.), and Department of Medicine (D.E.T., J.Y.E., C.G.S., J.G.P., M.W.H.), The University of Western Ontario, London, Canada; School of Biomedical Sciences, University of Western Australia, Perth (P.H.R.B.); and Esperion Therapeutics Inc, Ann Arbor, MI (R.S.N.).
    Objective: Bempedoic acid (BemA; ETC-1002) is a novel drug that targets hepatic ATP-citrate lyase to reduce cholesterol biosynthesis. In phase 2 studies, BemA lowers elevated low-density lipoprotein cholesterol (LDL-C) in hypercholesterolemic patients. In the present study, we tested the ability of BemA to decrease plasma cholesterol and LDL-C and attenuate atherosclerosis in a large animal model of familial hypercholesterolemia. Read More

    Positive correlation of the serum angiopoietin-like protein 3 levels with the aortic augmentation index in patients with coronary artery disease.
    Ther Clin Risk Manag 2018 5;14:231-236. Epub 2018 Feb 5.
    School of Medicine, Tzu Chi University, Hualien.
    Purpose: Angiopoietin-like protein 3 (ANGPTL3) plays an important role in lipid metabolism and angiogenesis and is elevated in familial hypercholesterolemia, metabolic syndrome, and insulin resistance. This study aims to evaluate the relationship between the fasting serum ANGPTL3 levels and the aortic augmentation index (AIx) in patients with coronary artery disease (CAD).

    Materials And Methods: Fasting blood samples were obtained from 100 patients with CAD. Read More

    Awareness of Cardiovascular Risk Factors in U.S. Young Adults Aged 18-39 Years.
    Am J Prev Med 2018 Feb 9. Epub 2018 Feb 9.
    Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts.
    Introduction: Young adults with hyperlipidemia, hypertension, and diabetes are at increased risk of developing heart disease later in life. Despite emphasis on early screening, little is known about awareness of these risk factors in young adulthood.

    Methods: Data from the nationally representative cross-sectional National Health and Nutrition Examination Survey 2011-2014 were analyzed in 2017 to estimate the prevalence of self-reported awareness of hypercholesterolemia, hypertension, and diabetes in U. Read More

    Letter by Koh Regarding Article, "Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children With Heterozygous Familial Hypercholesterolemia: The CHARON Study (Hypercholesterolemia in Children and Adolescents Taking Rosuvastatin Open Label)".
    Circulation 2018 Feb;137(6):639-640
    Department of Cardiovascular Medicine, Heart Center, Gachon University, Gil Medical Center, and Gachon Cardiovascular Research Institute, Incheon, Korea.

    Prevalence of high cholesterol levels suggestive of familial hypercholesterolemia in Brazilian adolescents: Data from the study of cardiovascular risk in adolescents.
    J Clin Lipidol 2017 Dec 28. Epub 2017 Dec 28.
    Pontificia Universidade Catolica do Parana (PUCPR), Curitiba, Brazil. Electronic address:
    Background: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder with an estimated worldwide prevalence ranging from 1 in 200 individuals to 1 in 500 individuals in its heterozygous form. Individuals with FH exhibit high low-density lipoprotein cholesterol (LDLc) levels from birth, which leads to premature cardiovascular events. In Brazil, like in most countries around the world, FH is considered a public health problem but remains underdiagnosed and undertreated. Read More

    Mangifera indica L. extract (Vimang) reduces plasma and liver cholesterol and leucocyte oxidative stress in hypercholesterolemic LDL receptor deficient mice.
    Cell Biol Int 2018 Feb 10. Epub 2018 Feb 10.
    Dept of Structural and Functional Biology, Biology Institute, State University of Campinas, Campinas, SP, Brazil.
    Cardiovascular diseases are major causes of death worldwide. Beyond the classical cholesterol risk factor, other conditions such as oxidative stress are well documented to promote atherosclerosis. The Mangifera indica L. Read More

    Novel Hypolipidaemic Drugs: Mechanisms Of Action And Main Metabolic Effects.
    Curr Vasc Pharmacol 2018 02 8. Epub 2018 Feb 8.
    Department of Internal Medicine, School of Medicine, University of Ioannina, Ioannina. Greece.
    Over the last 3 decades, hypolipidaemic treatment has significantly reduced both cardiovascular (CV) risk and events, with statins being the cornerstone of this achievement. Nevertheless, residual CV risk and unmet goals in hypolipidaemic treatment make novel options necessary. Recently marketed monoclonal antibodies against proprotein convertase subtilisin/kexin type 9 (PCSK9) have shown the way towards innovation, while other ways of PCSK9 inhibition like small interfering RNA (Inclisiran) are already being tested. Read More

    Effect of SLCO1B1 gene polymorphisms and vitamin D on statin-induced myopathy.
    Drug Metab Pers Ther 2018 Feb 8. Epub 2018 Feb 8.
    Department of Medical Laboratory Sciences, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon.
    Background Statin therapy used to lower cholesterol levels results in a substantial reduction in cardiovascular complications. Previous observations in different ethnic populations showed that rs2306283A>G, p.Asn130Asp and rs4149056T>C, p. Read More

    Prevalence of risk factors of noncommunicable diseases in a rural population of district Gautam-Budh Nagar, Uttar Pradesh using the World Health Organization STEPS approach.
    J Family Med Prim Care 2017 Jul-Sep;6(3):491-497
    Department of Community Medicine, School of Medical Sciences and Research, Sharda University, Greater Noida, Uttar Pradesh, India.
    Context: Globally, it is estimated that by 2020, noncommunicable diseases (NCDs) will account for 73% of deaths and 60% of disease burden. India is in the midst of an epidemiological transition leading to increasing the prevalence of NCDs. Targeting the risk factors for NCDs is recognized as an essential preventive strategy. Read More

    Guidance for Pediatric Familial Hypercholesterolemia 2017.
    J Atheroscler Thromb 2018 Feb 6. Epub 2018 Feb 6.
    Department of Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine.
    This paper describes consensus statement by Joint Working Group by Japan Pediatric Society and Japan Atherosclerosis Society for Making Guidance of Pediatric Familial Hypercholesterolemia (FH) in order to improve prognosis of FH.FH is a common genetic disease caused by mutations in genes related to low density lipoprotein (LDL) receptor pathway. Because patients with FH have high LDL cholesterol (LDL-C) levels from the birth, atherosclerosis begins and develops during childhood which determines the prognosis. Read More

    New Therapeutic Approaches for Familial Hypercholesterolemia.
    Annu Rev Med 2018 Jan;69:113-131
    Departments of Medicine and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104; email: ,
    Familial hypercholesterolemia (FH) is a common genetic condition characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C), premature atherosclerotic cardiovascular disease, and considerable unmet medical need with conventional LDL-C-lowering therapies. Between 2012 and 2015, the US Food and Drug Administration approved four novel LDL-C-lowering agents for use in patients with FH based on the pronounced LDL-C-lowering efficacy of these medicines. We review the four novel approved agents, as well as promising LDL-C-lowering agents in clinical development, with a focus on their mechanism of action, efficacy in FH cohorts, and safety. Read More

    [Alirocoumab: new perspectives of lipid-lowering therapy].
    Ter Arkh 2017 ;89(12):114-121
    People's Friendship University of Russia, Moscow, Russia.
    Alirocoumab (Praluent) is a fully human monoclonal antibody against proprotein covertase subtilisin/kexin type 9 (PCSK9). The data of ODYSSEY Phases II and III clinical trials demonstrate the high efficacy of alirocoumab in lowering the level of low-density lipoprotein (LDL) cholesterol in patients with primary hypercholesterolemia, with a considerable advantage over control groups (placebo, ezetimibe or modified statin therapy) in both monotherapy and combination therapy with statins and other lipid-lowering agents. Alirocoumab provides additional lipid-lowering effects against other atherogenic fractions of cholesterol, including non-high-density lipoprotein cholesterol, apolipoprotein B and lipoprotein (a). Read More

    Hypolipidemic Drugs and Diabetes Mellitus-Mechanisms and Data From Genetic Trials.
    J Cardiovasc Pharmacol Ther 2018 Jan 1:1074248418757011. Epub 2018 Jan 1.
    1 Department of Internal Medicine, School of Medicine, University of Ioannina, Ioannina, Greece.
    Clinical trials and meta-analyses have shown that statins can dose dependently increase the incidence of new-onset diabetes mellitus (DM) especially in patients with underlying abnormalities of carbohydrate homeostasis. Mendelian randomization studies support these findings since genetic variants in the gene encoding the target of statins, the enzyme 3-hydroxy-3-methylglutaryl coenzyme A reductase, are associated with increased incidence of new-onset DM, suggesting that the so-called diabetogenic effect of statins is an "on-target effect" possibly related to their main mechanism of action, that is the increased low-density lipoprotein (LDL) receptor expression. Additionally, Mendelian randomization studies have shown that genetic variants as proxies of other drugs that increase LDL receptor expression (ezetimibe and proprotein convertase subtilisin/kexin type 9 [PCSK9] inhibitors) also increase the risk of new-onset DM. Read More

    A comparative analysis of phenotypic predictors of mutations in familial hypercholesterolemia.
    J Clin Endocrinol Metab 2018 Feb 2. Epub 2018 Feb 2.
    School of Medicine, University of Western Australia, Perth, Australia.
    Context: The gold standard for diagnosing familial hypercholesterolemia (FH) is identification of a causative pathogenic mutation. However, genetic testing is expensive and not widely available.

    Objective: To compare the validity of the Dutch Lipid Clinic Network (DLCN), Simon Broome (SB), Make Early Diagnosis to Prevent Early Deaths (MEDPED) and American Heart Association (AHA) criteria in predicting an FH-causing mutation. Read More

    A nation-wide survey of patients with homozygous familial hypercholesterolemia phenotype undergoing LDL-apheresis in Turkey (A-HIT 1 registry).
    Atherosclerosis 2018 Jan 29;270:42-48. Epub 2018 Jan 29.
    Ankara University Medical Faculty Ibn-i Sina Hospital, Department of Hematology, Ankara, Turkey.
    Background And Aims: Homozygous familial hypercholesterolemia (HoFH) is a genetic condition characterized by lethally high levels of low-density lipoprotein cholesterol (LDL-C) from birth, and requires rapid and aggressive intervention to prevent death due to coronary heart disease and/or atherosclerosis. Where available, lipoprotein apheresis (LA) is the mainstay of treatment to promote survival.

    Methods: A-HIT1 registry was conducted with the aim of providing insight to the real-life management of HoFH patients undergoing LA in Turkey, where LA procedures are fully reimbursed and widely available. Read More

    High serum triglyceride concentrations in patients with homozygous familial hypercholesterolemia attenuate the efficacy of lipoprotein apheresis by dextran sulfate adsorption.
    Atherosclerosis 2018 Jan 12;270:26-32. Epub 2018 Jan 12.
    Institute on Nutrition and Functional Foods, Department of Medicine, Laval University, Quebec City, Canada; Lipid Clinic and Lipid Research Center, Department of Medicine, CHU de Québec-Laval University, Quebec City, Canada. Electronic address:
    Background And Aims: Maximizing the acute reduction of LDL-cholesterol (C) and lipoprotein (a) (Lp(a)) concentrations in patients with homozygous familial hypercholesterolemia (HoFH) is the main goal of lipoprotein apheresis (LA). The objective of this study was to examine how the pre-LA serum TG concentrations influence the efficacy of LA to acutely reduce LDL-C and Lp(a) concentrations in HoFH patients.

    Methods: Data from 1761 LA treatments of HoFH patients (n = 10) and compound heterozygous patients (n = 5) collected between 2008 and 2016 were analyzed. Read More

    The cost-effectiveness of screening strategies for familial hypercholesterolaemia in Poland.
    Atherosclerosis 2018 Jan 31;270:132-138. Epub 2018 Jan 31.
    Department of Clinical and Experimental Pharmacology, Medical University of Warsaw, Poland. Electronic address:
    Background And Aims: Familial hypercholesterolaemia (FH) elevates the cholesterol level and increases the risk of coronary events and death. Early detection and treatment reduce this risk. We aimed to determine the cost-effectiveness of FH screening in Poland in children, first job takers, and after an acute coronary syndrome (ACS) event, each followed by a cascade screening in the relatives of the positively-diagnosed subjects. Read More

    Lipoprotein profile assessed by 2D-1H-NMR and subclinical atherosclerosis in children with familial hypercholesterolaemia.
    Atherosclerosis 2018 Jan 31;270:117-122. Epub 2018 Jan 31.
    Vascular Medicine and Metabolism Unit, Research Unit on Lipids and Atherosclerosis, Sant Joan University Hospital, Universitat Rovira i Virgili, IISPV, Reus, Spain; Spanish Biomedical Research Centre in Diabetes and Associated Metabolic Disorders (CIBERDEM), Madrid, Spain.
    Background And Aims: Familial hypercholesterolaemia (FH) is underdiagnosed in children. In addition to lipid concentrations, lipoprotein particle quantity and quality could influence cardiovascular risk. We aimed to perform a comprehensive plasma lipid study, including lipoprotein particle number and size assessment by two-dimensional nuclear magnetic resonance (2D-1H-NMR), in children with FH compared to non-affected children and to evaluate the clinical value of these factors as subclinical atherosclerosis biomarkers. Read More

    A population-based screening study for cardiovascular diseases and diabetes in Danish postmenopausal women: acceptability and prevalence.
    BMC Cardiovasc Disord 2018 02 5;18(1):20. Epub 2018 Feb 5.
    Cardiovascular Research Centre, Regional Hospital Central Denmark, Heibergs Allé 4, 8800, Viborg, Denmark.
    Background: Reducing women's cardiovascular risk and the economic costs associated with cardiovascular diseases (CVD) and diabetes (DM) continues to be a challenge. Whether a multifaceted CVD screening programme is beneficial as a preventive strategy in women remains uncertain. The aim of this study was to investigate the prevalence of CVD and DM as well as the acceptability toward screening and preventive actions. Read More

    Prevalence, diagnosis, and treatment of familial hypercholesterolaemia in outpatient practice in Poland.
    Kardiol Pol 2018 Feb 5. Epub 2018 Feb 5.
    1-st Department of Cardiology Medical University of Gdansk, Debinki 7, 80-211 Gdansk, Poland; I Klinika i Katedra Kardiologii Gdański Uniwersytet Medyczny, ul. Debinki 7, 80-211 Gdansk, Poland.
    Background: Familial hypercholesterolaemia (FH) is the most common genetic disease leading to premature atherosclerosis.

    Aim: The aim of the study was to evaluate the prevalence, diagnosis, and treatment of FH in outpatient practice in Poland.

    Methods: The study included a representative sample of 147 primary care physicians, cardiologists, and diabetologists caring for 2812 adult patients with hypercholesterolaemia and low-density lipoprotein cholesterol (LDL-C) level >1. Read More

    Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.
    Chonnam Med J 2018 Jan 25;54(1):31-35. Epub 2018 Jan 25.
    Department of Preventive Medicine, Chonnam National University Medical School, Gwangju, Korea.
    We aimed to evaluate the prevalence of familial hypercholesterolaemia (FH) in a subject with hypercholesterolaemia from two population-based cohorts in South Korea. A total of 283 subjects with total cholesterol levels of 290 mg/dL (7.5 mmol/L) or higher were selected from the Namwon and Dong-gu Studies. Read More

    Lipoprotein apheresis affects lipoprotein particle subclasses more efficiently compared to the PCSK9 inhibitor evolocumab, a pilot study.
    Transfus Apher Sci 2018 Jan 4. Epub 2018 Jan 4.
    Division of Internal Medicine, Nordland Hospital, Bodø, Norway; Institute of Clinical Medicine, University of Tromsø, Tromsø, Norway. Electronic address:
    Lipoprotein apheresis and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors are last therapeutic resorts in patients with familial hypercholesterolemia (FH). We explored changes in lipoprotein subclasses and high-density lipoprotein (HDL) function when changing treatment from lipoprotein apheresis to PCSK9 inhibition. We measured the levels of low-density lipoprotein (LDL) and HDL particle subclasses, serum amyloid A1 (SAA1), paraoxonase-1 (PON1) activity and cholesterol efflux capacity (CEC) in three heterozygous FH patients. Read More

    Cardiovascular risk in patients with familial hypercholesterolemia using optimal lipid-lowering therapy.
    J Clin Lipidol 2018 Jan 2. Epub 2018 Jan 2.
    Pharmacology, Vascular and Metabolic Diseases Section of the Department of Internal Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands.
    Background: Despite lipid-lowering therapy (LLT), some patients with familial hypercholesterolemia (FH) still develop cardiovascular events. Data about the quantification and factors contributing to this residual risk are lacking.

    Objective: This study assessed how many patients with FH developed a cardiovascular event despite LLT and which factors contribute to this risk. Read More

    Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia.
    J Clin Lipidol 2017 Dec 28. Epub 2017 Dec 28.
    Department of Molecular Medicine, 'Sapienza' University of Rome, Umberto I Hospital, Rome, Italy. Electronic address:
    Background: Mutations in the genes for the low-density lipoprotein receptor (LDLR), apolipoprotein B, and proprotein convertase subtilisin/kexin type 9 have been reported to cause heterozygous and homozygous familial hypercholesterolemia (FH).

    Objective: The objective is to examine the influence of double heterozygous, compound heterozygous, or homozygous mutations underlying FH on the efficacy of alirocumab.

    Methods: Patients from 6 alirocumab trials with elevated low-density lipoprotein cholesterol (LDL-C) and FH diagnosis were sequenced for mutations in the LDLR, apolipoprotein B, proprotein convertase subtilisin/kexin type 9, LDLR adaptor protein 1 (LDLRAP1), and signal-transducing adaptor protein 1 genes. Read More

    Xanthomatosis in bilateral hands mimicking rheumatoid arthritis: A case report.
    Medicine (Baltimore) 2017 Dec;96(51):e9399
    Department of Radiology, The Second Xiangya Hospital of Central South University, Changsha, Hunan.
    Rationale: Xanthomatosis often accompanies familial hypercholesterolemia. This disease usually occurs in tendons, most commonly located in the Achilles tendon; occasionally it can also be seen in other systems. Although there are previous reports for bilateral hand extensor tendon involvement, to our knowledge there is no report in English literature regarding bilateral hands with small joint synovium presenting as rheumatoid arthritis. Read More

    Lomitapide in homozygous familial hypercholesterolemia: cardiology perspective from a single-center experience.
    J Cardiovasc Med (Hagerstown) 2018 Mar;19(3):83-90
    Division of Cardiology, Department of Cardio-thoracic and Respiratory Sciences, University of Campania 'Luigi Vanvitelli', A.O. dei Colli Monaldi Hospital, Naples.
    Aims: Homozygous familial hypercholesterolemia (HoFH) is a genetic dyslipidemia characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerosis. Frequently, traditional lipid-lowering therapy is ineffective in these patients, and lipoprotein apheresis is required. Lomitapide has been recently approved for HoFH. Read More

    Familial hypercholesterolemia: experience from France.
    Curr Opin Lipidol 2018 Jan 31. Epub 2018 Jan 31.
    Assistance publique-Hôpitaux de Paris (APHP), Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix, Molecular and Chromosomal Genetics Center, Obesity and Dyslipidemia Genetics Unit.
    Purpose Of Review: We provide an overview of molecular diagnosis for familial hypercholesterolemia in France including descriptions of the mutational spectrum, polygenic susceptibility and perspectives for improvement in familial hypercholesterolemia diagnosis.

    Recent Findings: Molecular testing for familial hypercholesterolemia is recommended for patients with a LDL-cholesterol level above 190 mg/dl (adults) associated with criteria related to personal and family history of hypercholesterolemia and premature cardiovascular disease. Among the 3381 index cases included with these characteristics in the French registry for familial hypercholesterolemia, 2054 underwent molecular diagnosis and 1150 (56%) were found to have mutations (93. Read More

    Treatment Preferences in Germany Differ Among Apheresis Patients with Severe Hypercholesterolemia.
    Pharmacoeconomics 2018 Jan 31. Epub 2018 Jan 31.
    Professur Gesundheitsökonomie und Medizinmanagement, Hochschule Neubrandenburg, Brodaer Straße 2, 17033, Neubrandenburg, Germany.
    Background: Severe hypercholesterolemia is a major risk factor of death in patients with coronary heart disease. New adjunctive drug therapies (proprotein convertase subtilisin/kexin type 9 [PCSK9] inhibitors) have gained approval in Europe and the USA.

    Objective: In this empirical study, we documented preferences regarding adjuvant drug therapy in apheresis-treated patients with severe familial hypercholesterolemia. Read More

    Risk factors for degenerative aortic valve disease in India: A case control study.
    Med J Armed Forces India 2018 Jan 18;74(1):33-37. Epub 2017 Apr 18.
    Brig Med (MG & G Area), Mumbai, India.
    Background: Degenerative aortic valve disease often co-exists with coronary artery disease (CAD) and studies done in western populations have shown that it shares the same risk factors which cause CAD. However little is known in this context among Asian Indians. The current study looks into the risk factors of degenerative aortic valve disease in Asian Indian population. Read More

    New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.
    Sci Rep 2018 Jan 31;8(1):1943. Epub 2018 Jan 31.
    INSERM LVTS U1148, hôpital Bichat-Claude Bernard, Paris, France.
    Autosomal dominant hypercholesterolemia (ADH) is characterized by elevated LDL-C levels leading to coronary heart disease. Four genes are implicated in ADH: LDLR, APOB, PCSK9 and APOE. Our aim was to identify new mutations in known genes, or in new genes implicated in ADH. Read More

    Basics of Compounding: Providing Pharmacy Services to Bariatric Surgery Patients.
    Int J Pharm Compd 2018 Jan-Feb;22(1):30-39
    Indiana University Health, Indianapolis, Indiana.
    With the rise in obesity, more individuals are choosing bariatric surgery as a means to successfully lose weight and resolve co-morbidities. These patients need lifelong support from friends, family, and healthcare providers. Pharmacists need to be knowledgeable of the unique needs of these patients in order to provide information and recommendations on drug therapies and supplements. Read More

    Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?
    Eur J Hum Genet 2018 Jan 26. Epub 2018 Jan 26.
    LVTS, INSERM U1148, Paris, France.
    Familial hypercholesterolemia (FH) is caused by mutations in LDLR (low-density lipoprotein receptor), APOB (apolipoprotein B), PCSK9 (proprotein convertase subtilisin/kexin type 9), or APOE (apolipoprotein E) genes in approximately 80% of the cases. Polygenic forms of hypercholesterolemia may be present among patients clinically diagnosed with FH but with no identified mutation (FH mutation-negative (FH/M-)). To address whether polygenic forms may explain phenocopies in FH families, we calculated a 6-single-nucleotide polymorphism (SNP) genetic risk score (GRS) in all members from five French FH families where a mutation was identified (FH/M+) as well as some phenocopies (FH/M-). Read More

    Effects of krill oil and lean and fatty fish on cardiovascular risk markers: a randomised controlled trial.
    J Nutr Sci 2018 17;7:e3. Epub 2018 Jan 17.
    Department of Nutrition, Institute for Basic Medical Sciences, University of Oslo, PO Box 1046 Blindern, 0317 Oslo, Norway.
    Fish consumption and supplementation with-3 fatty acids reduce CVD risk. Krill oil is an alternative source of marine-3 fatty acids and few studies have investigated its health effects. Thus, we compared krill oil supplementation with the intake of fish with similar amounts of-3 fatty acids on different cardiovascular risk markers. Read More

    Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa.
    Curr Opin Lipidol 2018 Jan 24. Epub 2018 Jan 24.
    Department of Medicine, Faculty of Health Sciences, University of Witwatersrand, Johannesburg, South Africa.
    Purpose Of Review: To describe the prevalence and population-specific genetic heterogeneity of familial hypercholesterolemia in South Africa.

    Recent Findings: This review highlights the paucity of data on familial hypercholesterolemia in South Africa, and the urgent need to uncover the mutation profiles in lipid-associated genes, causing an increase in LDL-cholesterol in the different ethnic groups. Case reports and small studies have shown that familial hypercholesterolemia, although apparently uncommon, is present in black Africans. Read More

    Treatment Strategy for Dyslipidemia in Cardiovascular Disease Prevention: Focus on Old and New Drugs.
    Pharmacy (Basel) 2018 Jan 21;6(1). Epub 2018 Jan 21.
    Clinical Pharmacy Fellowship, University of Messina, Viale Annunziata, 98168 Messina, Italy.
    Prevention and treatment of dyslipidemia should be considered as an integral part of individual cardiovascular prevention interventions, which should be addressed primarily to those at higher risk who benefit most. To date, statins remain the first-choice therapy, as they have been shown to reduce the risk of major vascular events by lowering low-density lipoprotein cholesterol (LDL-C). However, due to adherence to statin therapy or statin resistance, many patients do not reach LDL-C target levels. Read More

    Genetics of familial hypercholesterolemia: a tool for development of novel lipid lowering pharmaceuticals?
    Curr Opin Lipidol 2018 Jan 19. Epub 2018 Jan 19.
    Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands.
    Purpose Of Review: Familial hypercholesterolemia is characterized by high LDL cholesterol and an elevated risk to develop coronary heart disease. Mutations in LDL receptor-mediated cholesterol uptake are the main cause of familial hypercholesterolemia. However, multiple mutations in various other genes are also associated with high LDL cholesterol and even familial hypercholesterolemia. Read More

    Familial hypercholesterolemia: experience from the French-Canadian population.
    Curr Opin Lipidol 2018 Jan 19. Epub 2018 Jan 19.
    Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal.
    Purpose Of Review: There has recently been renewed interest in the study of the various facets of familial hypercholesterolemia, a severe monogenic disease associated with elevated LDL-cholesterol and premature cardiovascular disease (CVD). In the present review, novel data presenting the frequency of familial hypercholesterolemia as well as factors modulating the cardiovascular risk in familial hypercholesterolemia will be discussed.

    Recent Findings: Recent studies have showed that familial hypercholesterolemia is much more prevalent than initially thought. Read More

    Ameliorating effects of D-47, a newly developed compound, on lipid metabolism in an animal model of familial hypercholesterolemia (WHHLMI rabbits).
    Eur J Pharmacol 2018 Mar;822:147-153
    Division of Comparative Pathophysiology, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan; Institute for Experimental Animals, Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan. Electronic address:
    Improvements induced in lipid metabolism in the liver by D-47, a newly developed compound, were examined herein. WHHLMI rabbits, an animal model of hypercholesterolemia and coronary atherosclerosis, was fed D-47-supplemented chow for 5 weeks at a dose of 30mg/kg. Lipid concentration were assayed using enzymatic methods. Read More

    Oral Fat Tolerance Test for Sitosterolemia and Familial Hypercholesterolemia: A Study Protocol.
    J Atheroscler Thromb 2018 Jan 20. Epub 2018 Jan 20.
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine.
    Aim: Sitosterolemia is an extremely rare, autosomal recessive disease characterized by high plasma cholesterols and plant sterols because of increased absorption of dietary cholesterols and sterols from the intestine, and decreased excretion from biliary tract. Previous study indicated that sitosterolemic patients might be vulnerable to post-prandial hyperlipidemia, including high remnant-like lipoprotein particles (RLP) level. Here we evaluate whether a loading dietary fat increases a post-prandial RLP cholesterol level in sitosterolemic patients compared to heterozygous familial hypercholesterolemic patients (FH). Read More

    Treatment Patterns and Lipid Profile in Patients with Familial Hypercholesterolemia in Japan.
    J Atheroscler Thromb 2018 Jan 19. Epub 2018 Jan 19.
    Rinku General Medical Center.
    Aim: To evaluate the epidemiology and real-world treatment patterns associated with lipid-modifying therapies (LMTs) among groups of Japanese patients with familial hypercholesterolemia (FH).

    Methods: A retrospective observational study was conducted using an electronic hospital-based administrative claims database and electronic medical records. Patients with existing diagnosis of FH (FH-D) and patients with suspected FH (FH-S) defined by low-density lipoprotein cholesterol (LDL-C) ≥190 mg/dL were included, and medical records of hospitals across Japan were analyzed to assess the diagnostic status, management of LDL-C levels, and treatment patterns. Read More

    Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
    Atherosclerosis 2018 Feb 27;269:106-116. Epub 2017 Dec 27.
    Clinical Research Unit, Khoo Teck Puat Hospital, 768828, Singapore; Diabetes Centre, Admiralty Medical Centre, 730676, Singapore; Division of Endocrinology, Khoo Teck Puat Hospital, 768828, Singapore. Electronic address:
    Background And Aims: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease characterized by the presence of high plasma low density lipoproteins cholesterol (LDL-c). Patients with FH, with mutation detected, are at increased risk of premature cardiovascular disease compared to those without mutations. The aim of the study was to assess the type of mutations in patients, clinically diagnosed with FH in Singapore. Read More

    Risk factors for first-time acute myocardial infarction patients in Trinidad.
    BMC Public Health 2018 01 19;18(1):161. Epub 2018 Jan 19.
    School of Medicine, Faculty of Medical Sciences, University of the West Indies, Eric Williams Medical Sciences Complex, Mt. Hope, Trinidad, Trinidad and Tobago.
    Background: The relative importance of coronary artery disease (CAD) risk varies globally. The aim of this study was to determine CAD risk factors for acute myocardial infarction (AMI) among patients in public health care institutions in Trinidad using a case-control type study design.

    Methods: The sample comprised 251 AMI patients hospitalized between March 1, 2011 and April 30, 2012 and 464 age- and sex-matched non-AMI patients with no terminal or life-threatening illness and who did not undergo treatment for CAD. Read More

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