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    11939 results match your criteria Hyperlipoproteinemia

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    Effect of adding bezafibrate to standard lipid-lowering therapy on post-fat load lipid levels in patients with familial dysbetalipoproteinemia. A randomized, placebo-controlled, crossover trial.
    J Lipid Res 2017 Sep 19. Epub 2017 Sep 19.
    UMC Utrecht, Netherlands;
    Familial dysbetalipoproteinemia (FD) is a genetic disorder associated with impaired postprandial lipid clearance. The effect of adding bezafibrate to standard lipid-lowering therapy on postprandial and fasting lipid levels in patients with FD is unknown. In this randomized, placebo-controlled, double blind, crossover trial, 15 patients with FD received bezafibrate and placebo for 6 weeks in randomized order in addition to standard lipid-lowering therapy (statin, ezetimibe and/or lifestyle). Read More

    A case of severe acquired hypertriglyceridemia in a 7-year-old girl.
    J Clin Lipidol 2017 Aug 12. Epub 2017 Aug 12.
    Department of Medicine, Center for Preventive Cardiology, Knight Cardiovascular Institute, Oregon Health & Science University, Portland, OR, USA. Electronic address:
    We report a case of severe type I hyperlipoproteinemia caused by autoimmunity against lipoprotein lipase (LPL) in the context of presymptomatic Sjögren's syndrome. A 7-year-old mixed race (Caucasian/African American) girl was admitted to the intensive care unit at Vanderbilt Children's Hospital with acute pancreatitis and shock. She was previously healthy aside from asthma and history of Hashimoto's thyroiditis. Read More

    The PDK1 Inhibitor Dichloroacetate Controls Cholesterol Homeostasis Through the ERK5/MEF2 Pathway.
    Sci Rep 2017 Sep 6;7(1):10654. Epub 2017 Sep 6.
    INSERM, U1183; Université de Montpellier, UFR Medecine, 80, av. Augustin Fliche, 34295, Montpellier Cedex 5, France.
    Controlling cholesterol levels is a major challenge in human health, since hypercholesterolemia can lead to serious cardiovascular disease. Drugs that target carbohydrate metabolism can also modify lipid metabolism and hence cholesterol plasma levels. In this sense, dichloroacetate (DCA), a pyruvate dehydrogenase kinase (PDK) inhibitor, augments usage of the glycolysis-produced pyruvate in the mitochondria increasing oxidative phosphorylation (OXPHOS). Read More

    Efficacy of Rosuvastatin in Children With Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations.
    J Am Coll Cardiol 2017 Aug;70(9):1162-1170
    Department of Paediatrics and Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
    Background: Homozygous familial hypercholesterolemia (HoFH), a rare genetic disorder, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerotic cardiovascular disease. Statin treatment starts at diagnosis, but no statin has been formally evaluated in, or approved for, HoFH children.

    Objectives: The authors sought to assess the LDL-C efficacy of rosuvastatin versus placebo in HoFH children, and the relationship with underlying genetic mutations. Read More

    Circulating miR-200c is up-regulated in paediatric patients with familial hypercholesterolaemia and correlates with miR-33a/b levels: implication of a ZEB1-dependent mechanism.
    Clin Sci (Lond) 2017 Sep 8;131(18):2397-2408. Epub 2017 Sep 8.
    Istituto Dermopatico dell'Immacolata-IRCCS, FLMM, Vascular Pathology Laboratory, Via dei Monti di Creta 104, Rome 00167, Italy
    Hypercholesterolaemia provokes reactive oxygen species (ROS) increase and is a major risk factor for cardiovascular disease (CVD) development. We previously showed that circulating miR-33a/b expression levels were up-regulated in children with familial hypercholesterolaemia (FH). miR-33a/b control cholesterol homoeostasis and recently miR-33b has been demonstrated to directly target the transcription factor zinc finger E-box-binding homeobox 1 (ZEB1). Read More

    PCSK9 in context: A contemporary review of an important biological target for the prevention and treatment of atherosclerotic cardiovascular disease.
    Diabetes Obes Metab 2017 Jul 24. Epub 2017 Jul 24.
    Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital, Perth, Western Australia.
    The identification of the critical role of proprotein convertase subtilisin/kexin type 9 (PCSK9) has rapidly led to the development of PCSK9 inhibition with monoclonal antibodies (mAbs). PCSK9 mAbs are already in limited clinical use and are the subject of major cardiovascular outcomes trials, which, if universally positive, could see much wider clinical application of these agents. Patients with familial hypercholesterolaemia are the most obvious candidates for these drugs, but other patients with elevated cardiovascular risk, statin intolerance or hyperlipoproteinaemia(a) may also benefit. Read More

    Statins for children with familial hypercholesterolemia.
    Cochrane Database Syst Rev 2017 07 7;7:CD006401. Epub 2017 Jul 7.
    Mehiläinen Airport Health Centre, Vantaa and Finnish Institute of Occupational Health, Lappeenranta, Finland.
    Background: Familial hypercholesterolemia is one of the most common inherited metabolic diseases and is an autosomal dominant disorder meaning heterozygotes, or carriers, are affected. Those who are homozygous have severe disease. The average worldwide prevalence of heterozygous familial hypercholesterolemia is at least 1 in 500, although recent genetic epidemiological data from Denmark and next generation sequencing data suggest the frequency may be closer to 1 in 250. Read More

    Apolipoprotein E - A Multifunctional Protein with Implications in Various Pathologies as a Result of Its Structural Features.
    Comput Struct Biotechnol J 2017 6;15:359-365. Epub 2017 Jun 6.
    Institute of Cellular Biology and Pathology "Nicolae Simionescu" of the Romanian Academy, 8 B. P. Hasdeu Street, Sector 5, 050568 Bucharest, Romania.
    Apolipoprotein E (apoE), a 34 kDa glycoprotein, mediates hepatic and extrahepatic uptake of plasma lipoproteins and cholesterol efflux from lipid-laden macrophages. In humans, three structural different apoE isoforms occur, with subsequent functional changes and pathological consequences. Here, we review data supporting the involvement of apoE structural domains and isoforms in normal and altered lipid metabolism, cardiovascular and neurodegenerative diseases, as well as stress-related pathological states. Read More

    Lomitapide for the treatment of hypercholesterolemia.
    Expert Opin Pharmacother 2017 Aug 30;18(12):1261-1268. Epub 2017 Jul 30.
    a Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry , Western University , London , Canada.
    Introduction: Homozygous familial hypercholesterolemia (HoFH) is a serious rare inherited condition that leads to extremely elevated levels of low density lipoprotein cholesterol (LDL-C), and predisposes affected individuals to high risk of atherosclerotic vascular disease. Traditional therapies are largely ineffective in managing the hypercholesterolemia in these patients; diet and regular LDL-apheresis are the mainstays of management. Lomitapide is an inhibitor of microsomal triglyceride transfer protein (MTP) that blocks the assembly of metabolic precursors of LDL particles. Read More

    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 2017 Jul 7;136(4):359-366. Epub 2017 Jun 7.
    From Department of Vascular Medicine (M.J.A.M.B., D.M.K., J.J.P.K.), Department of Pediatrics (M.J.A.M.B., A.W.), and Department of Clinical Epidemiology, Biostatistics and Bioinformatics (B.A.H.), Academic Medical Center, Amsterdam, the Netherlands; Lipid Clinic, Medical Department, Oslo University Hospital, Norway (G.L.); Department of Pediatrics, University of Toronto, Labatt Family Health Center, The Hospital for Sick Children, Ontario, Canada (B.W.M.); Department of Hepatology and Metabolic Center, University Hospitals Leuven, Belgium (D.C.); Healthy Heart Program Prevention Clinic, St. Paul's Hospital, Vancouver, British Columbia, Canada (G.A.F.); Department of Medicine, University of British Columbia, Vancouver, Canada (G.A.F.); Clinique des Maladies Lipidiques de Québec Inc, Québec, QC, Canada (C.G.); Department of Medicine, Université de Montréal, Montréal, Québec, Canada (D.G.); Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada (K.M.M.); Metabolic & Atherosclerosis Research Center, Cincinnati, OH (T.T., E.A.S.); AstraZeneca Pharmaceuticals LP, Wilmington, DE (E.M., J.S.R.); and AstraZeneca, Macclesfield, Cheshire, United Kingdom (P.D.M.).
    Background: Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant disorder leading to premature atherosclerosis. Children with HeFH exhibit early signs of atherosclerosis manifested by increased carotid intima-media thickness (IMT). In this study, we assessed the effect of 2-year treatment with rosuvastatin on carotid IMT in children with HeFH. Read More

    Toward an international consensus-Integrating lipoprotein apheresis and new lipid-lowering drugs.
    J Clin Lipidol 2017 Jul - Aug;11(4):858-871.e3. Epub 2017 Apr 25.
    Division of Clinical Pharmacology, Department of Internal Medicine, University of Kansas Medical Center, Kansas City, KS, USA.
    Background: Despite advances in pharmacotherapy of lipid disorders, many dyslipidemic patients do not attain sufficient lipid lowering to mitigate risk of atherosclerotic cardiovascular disease. Several classes of novel lipid-lowering agents are being evaluated to reduce atherosclerotic cardiovascular disease risk. Lipoprotein apheresis (LA) is effective in acutely lowering the plasma concentrations of atherogenic lipoproteins including low-density lipoprotein cholesterol and lipoprotein(a), and novel lipid-lowering drugs may dampen the lipid rebound effect of LA, with the possibility that LA frequency may be decreased, in some cases even be discontinued. Read More

    In silico analyses of deleterious missense SNPs of human apolipoprotein E3.
    Sci Rep 2017 May 30;7(1):2509. Epub 2017 May 30.
    Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília, Brasília-DF, Brazil.
    ApoE3 is the major chylomicron apolipoprotein, binding in a specific liver peripheral cell receptor, allowing transport and normal catabolism of triglyceride-rich lipoprotein constituents. Point mutations in ApoE3 have been associated with Alzheimer's disease, type III hyperlipoproteinemia, atherosclerosis, telomere shortening and impaired cognitive function. Here, we evaluate the impact of missense SNPs in APOE retrieved from dbSNP through 16 computational prediction tools, and further evaluate the structural impact of convergent deleterious changes using 100 ns molecular dynamics simulations. Read More

    Statin intolerance in heterozygous familial hypercolesterolemia with cardiovascular disease: After PCSK-9 antibodies what else?
    Eur J Prev Cardiol 2017 Sep 30;24(14):1528-1531. Epub 2017 May 30.
    1 U.O. Lipoapheresis and Center for Inherited Dyslipidemias, Fondazione Toscana Gabriele Monasterio, Italy.
    Background Familial hypercholesterolemia is the elective clinical condition that deserves the maximal personalisation in lipid-lowering therapy, especially in the presence of statin intolerance. Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors represent a promising approach to lower low-density lipoprotein (LDL) cholesterol. Methods We enrolled 18 patients (mean age 62 ± 8 years, 72% men) affected by heterozygous familial hypercholesterolemia and cardiovascular disease, with a history of statin intolerance assigned to PCSK9 inhibitors. Read More

    [Congenital disorders of lipoprotein metabolism].
    Herz 2017 Aug;42(5):449-458
    Medizinische Klinik V (Nephrologie, Hypertensiologie, Rheumatologie, Endokrinologie, Diabetologie), Medizinische Fakultät Mannheim der Universität Heidelberg, Mannheim, Deutschland.
    Congenital disorders of lipid metabolism are caused by a wide range of variants of the genes for receptors, apolipoproteins, enzymes, transfer factors, and cellular cholesterol transporters. Clinically most relevant are autosomal dominant familial hypercholesterolemia (FH) and familial combined hyperlipoproteinemia (FCHL). FH has a prevalence of 1:250. Read More

    When do paediatric patients with familial hypercholesterolemia need statin therapy?
    Dev Period Med 2017;21(1):43-50
    Department and Clinic of Pediatric Diabetology and Endocrinology, Medical University of Gdańsk.
    Introduction: Familial hypercholesterolemia (FH) is one of the most common autosomal dominant disorders. It is characterized by elevated LDL cholesterol levels occurring already by early childhood. Awareness of health risks in FH patients should incite health professionals to actively seek and treat children with lipid disorders to reduce their risk of myocardial infarction and stroke. Read More

    A novel frameshift mutation in the lipoprotein lipase gene is rescued by alternative messenger RNA splicing.
    J Clin Lipidol 2017 Mar - Apr;11(2):357-361. Epub 2017 Feb 3.
    LabPlus, Auckland City Hospital, Auckland, New Zealand.
    Background: Type I hyperlipoproteinemia, manifesting as chylomicronemia and severe hypertriglyceridemia, is a rare autosomal recessive disorder usually caused by mutations in the lipoprotein lipase gene (LPL).

    Objective: We sought to determine whether mutations in LPL could explain the clinical indications of a patient presenting with pancreatitis and hypertriglyceridemia.

    Methods: Coding regions of LPL were amplified by polymerase chain reaction and analyzed by nucleotide sequencing. Read More

    Serious adverse events and the risk of stroke in patients with rheumatoid arthritis: results from the German RABBIT cohort.
    Ann Rheum Dis 2017 Sep 8;76(9):1583-1590. Epub 2017 May 8.
    Epidemiology Unit, German Rheumatism Research Centre, Berlin, Germany.
    Objective: In the general population, the incidence of stroke is increased following other serious events and hospitalisation. We investigated the impact of serious adverse events on the risk of stroke in patients with rheumatoid arthritis (RA), taking risk factors and treatment into account.

    Methods: Using data of the German biologics register RABBIT (Rheumatoid Arthritis: Observation of Biologic Therapy) with 12354 patients with RA, incidence rates (IRs) and risk factors for stroke were investigated using multi-state and Cox proportional hazard models. Read More

    CREBH mediates metabolic inflammation to hepatic VLDL overproduction and hyperlipoproteinemia.
    J Mol Med (Berl) 2017 Aug 28;95(8):839-849. Epub 2017 Apr 28.
    The Department of Nutrition and Health Sciences, University of Nebraska-Lincoln, 316F Leverton Hall, Lincoln, NE, 68583-0806, USA.
    Metabolic inflammation is closely associated with hyperlipidemia and cardiovascular disease. However, the underlying mechanisms are not fully understood. The current study established that cAMP-responsive-element-binding protein H (CREBH), an acute-phase transcription factor, enhances very-low-density lipoprotein (VLDL) assembly and secretion by upregulating apolipoprotein B (apoB) expression and contributes to metabolic inflammation-associated hyperlipoproteinemia induced by TNFα, lipopolysaccharides (LPS), and high-fat diet (HFD) in mice. Read More

    Aortic Calcification Progression in Heterozygote Familial Hypercholesterolemia.
    Can J Cardiol 2017 May 10;33(5):658-665. Epub 2017 Feb 10.
    Research Institute of the McGill University Health Centre, Montreal, Québec, Canada. Electronic address:
    Background: Patients with homozygous and heterozygous familial hypercholesterolemia (HeFH) develop severe aortic calcifications in an age- and gene dosage-dependent manner. The purpose of this study was to determine the rate of progression of aortic calcification in patients with HeFH.

    Methods: We performed thoracoabdominal computed tomography scans and quantified aortic calcium (AoCa) score in 16 HeFH patients, all with the null low-density lipoprotein (LDL) receptor DEL15Kb mutation. Read More

    Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy.
    J Clin Lipidol 2017 May - Jun;11(3):757-762. Epub 2017 Apr 3.
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX, USA. Electronic address:
    Extreme hypertriglyceridemia is rare in the neonatal period. We report a neonate with lipoprotein lipase (LPL) deficiency who presented with diagnostic and management conundrum. A full-term 36-day-old female was noted to have "Pepto-Bismol like" blood when repeating a newborn screening. Read More

    The rationale and design of the national familial hypercholesterolemia registries in Turkey: A-HIT1 and A-HIT2 studies.
    Turk Kardiyol Dern Ars 2017 Apr;45(3):261-267
    Department of Cardiology, Ege University Medical School, İzmir, Turkey.
    Objective: Familial hypercholesterolemia (FH) is a genetic disease characterized by extremely high levels of cholesterol, leading to premature atherosclerosis. Although many countries have already addressed the burden of FH by means of national registries, Turkey has no national FH registry or national screening program to detect FH. Creation of a series of FH registries is planned as part of Turkish FH Initiative endorsed by the Turkish Society of Cardiology to meet this need. Read More

    Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish.
    Diabetes 2017 Jul 20;66(7):2054-2058. Epub 2017 Apr 20.
    Program in Personalized and Genomic Medicine, and Division of Endocrinology, Diabetes & Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD
    Alleles associated with lower levels of LDL cholesterol (LDL-C) have recently been associated with an increased risk of type 2 diabetes (T2D), highlighting the complex relationship between LDL-C and diabetes. This observation begs the question of whether LDL-C-raising alleles are associated with a decreased risk of T2D. This issue was recently addressed in a large familial hypercholesterolemia (FH) screening study, which reported a lower prevalence of self-reported diabetes in FH subjects than in age-matched relatives without FH. Read More

    Autoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia.
    N Engl J Med 2017 04 5;376(17):1647-1658. Epub 2017 Apr 5.
    From the Departments of Medicine (A.P.B., M.A.M., N.P.S., X.H., C.M.A., M.L., L.G.F., S.G.Y.), Rheumatology (M.A.M.), Human Genetics (K.R., S.G.Y.), and Pathology and Laboratory Medicine (P.T.), David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, and the Cardiovascular Research Institute and Department of Physiological Nursing, University of California, San Francisco, San Francisco (C.R.P.); the Department of Clinical Laboratory Medicine, Gunma University Graduate School of Medicine, Maebashi (K.M., T.M., M.M., K.N.), and the Department of Insured Medical Care Management, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo (M.A.) - both in Japan; the Finsen Laboratory, Rigshospitalet, Copenhagen (M.P.); the Department of Medicine, University of Cape Town, Cape Town, South Africa (D.J.B.); the Departments of Medicine and Pharmacology, Vanderbilt University Medical Center, Nashville (M.F.L.); the Department of Medicine, Faculty of Medicine, Chulalongkorn University and Thai Red Cross Society, Bangkok, Thailand (W.K.); Clinique de Prévention Cardiovasculaire, Institut de Recherches Cliniques de Montréal, University of Montreal, Montreal (R.D.); the Department of Medicine, University of Texas Southwestern Medical Center, Dallas (A.G.); the Department of Medicine, Division of Endocrinology, Diabetes, and Metabolism, New York University School of Medicine, New York (I.J.G.); and Fédération d'Endocrinologie, Groupement Hospitalier Est, Hospices Civils de Lyon, INSERM UMR-1060 Carmen, Université de Lyon, Lyon, France (P.M., S.C.).
    Background: A protein that is expressed on capillary endothelial cells, called GPIHBP1 (glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1), binds lipoprotein lipase and shuttles it to its site of action in the capillary lumen. A deficiency in GPIHBP1 prevents lipoprotein lipase from reaching the capillary lumen. Patients with GPIHBP1 deficiency have low plasma levels of lipoprotein lipase, impaired intravascular hydrolysis of triglycerides, and severe hypertriglyceridemia (chylomicronemia). Read More

    ScreenPro FH: from the Czech MedPed to international collaboration. ScreenPro FH is a participating project of the EAS-FHCS.
    Physiol Res 2017 Apr;66(Supplementum 1):S85-S90
    Centre for Preventive Cardiology, Third Department of Internal Medicine, University General Hospital and the First Faculty of Medicine, Prague, Czech Republic.
    This article describes the evolution of our understanding of familial hypercholesterolemia (FH) in the Central, Eastern, and Southern Europe (CESE) region, and the dissemination of this understanding to other countries. Using the ScreenPro FH project as an example, we would like to illustrate the progression from national objectives, to regional networking and, finally, to international collaboration via the Familial Hypercholesterolemia Studies Collaboration (FHSC) project under the leadership of the European Atherosclerosis Society (EAS). It is essential to improve our ability to diagnose FH. Read More

    Experimental models of hyperlipoproteinemia and atherosclerosis.
    Physiol Res 2017 Apr;66(Supplementum 1):S69-S75
    Centre for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
    The first experimental model of atherosclerosis (in rabbits) is more than hundred years old. Several animal species have been used to produce hyperlipoproteinemia and possible atherosclerosis. The gene manipulation produced the most used models recently. Read More

    The role of iron in the pathogenesis of atherosclerosis.
    Physiol Res 2017 Apr;66(Supplementum 1):S55-S67
    Second Department of Internal Medicine, Third Faculty of Medicine, Charles University and University Hospital Královské Vinohrady, Prague, Czech Republic.
    Ferritin and increased iron stores first appeared on the list of cardiovascular risk factors more than 30 years ago and their causal role in the pathogenesis of atherosclerosis has been heavily discussed since the early 1990s. It seems that besides traditional factors such as hyperlipoproteinemia, hypertension, diabetes mellitus, obesity, physical inactivity, smoking and family history, high iron stores represent an additional parameter that could modify individual cardiovascular risk. The role of iron in the pathogenesis of atherosclerosis was originally primarily associated with its ability to catalyze the formation of highly reactive free oxygen radicals and the oxidation of atherogenic lipoproteins. Read More

    Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic.
    Physiol Res 2017 Apr;66(Supplementum 1):S47-S54
    Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Brno, Czech Republic; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.
    Autosomal dominant hypercholesterolemia (ADH), more known as familial hypercholesterolemia (FH), is a lipid metabolism disorder characterized by an elevation in low-density lipoprotein cholesterol (LDL-C) and increased risk for cardiovascular disease. In this study, we assessed a spectrum of mutations causing ADH in 3914 unrelated Czech patients with clinical diagnosis of hypercholesterolemia. Samples have been collected within the framework of the MedPed project running in the Czech Republic since 1998. Read More

    Familial hypercholesterolemia in the Czech Republic: more than 17 years of systematic screening within the MedPed project.
    Physiol Res 2017 Apr;66(Supplementum 1):S1-S9
    Third Department of Internal Medicine, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.
    Familial hypercholesterolemia (FH) is the most common autosomal dominant disorder. It is characterized by a decrease in LDL cholesterol catabolism and an early clinical manifestation of atherosclerotic vessel damage. The aim of the MedPed (Make early diagnosis to Prevent early deaths) project is an early diagnosis of FH patients in order to profit from early treatment and prevent cardiovascular events. Read More

    Significance of lipoprotein(a) levels in familial hypercholesterolemia and coronary artery disease.
    Atherosclerosis 2017 May 18;260:67-74. Epub 2017 Mar 18.
    Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, BeiLiShi Road 167, Beijing 100037, China. Electronic address:
    Background And Aims: Patients with familial hypercholesterolemia (FH) are often characterized by premature coronary artery disease (CAD) with heterogeneity at onset. The aim of the present study was to investigate the associations of lipoprotein (a) [Lp(a)] with the FH phenotype, genotype and roles of Lp(a) in determining CAD risk among patients with and without FH.

    Methods: We enrolled 8050 patients undergoing coronary angiography, from our Lipid clinic. Read More

    The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study.
    Expert Rev Cardiovasc Ther 2017 May 4;15(5):415-423. Epub 2017 Apr 4.
    e Department of Medicine, Division of Endocrinology and Metabolism , University of California San Diego , La Jolla , CA , USA.
    Background: Familial Chylomicronemia Syndrome (FCS) is a rare genetic disorder that is caused by a decrease or an absence of lipoprotein lipase activity. FCS is characterized by marked accumulation of chylomicrons and extreme hypertriglyceridemia, which have major effects on both physical and mental health. To date, there have been no systematic efforts to characterize the impact of chylomicronemia on FCS patients' lives. Read More

    Remnant Cholesterol Elicits Arterial Wall Inflammation and a Multilevel Cellular Immune Response in Humans.
    Arterioscler Thromb Vasc Biol 2017 May 23;37(5):969-975. Epub 2017 Mar 23.
    From the Departments of Vascular Medicine (S.J.B.M., S.L.V., L.C.A.S., M.B., S.B., E.S.G.S., J.K.), Experimental Vascular Medicine (J.G.S.), and Nuclear Medicine (H.J.V.), AMC, Amsterdam, The Netherlands; The Copenhagen General Population Study (A.L., B.G.N.) and Department of Clinical Biochemistry (A.L., B.G.N.), Herlev and Gentofte Hospital, Copenhagen University Hospital, Denmark; and Department of Hematopoiesis, Sanquin Research and Landsteiner Laboratory, University of Amsterdam, The Netherlands (C.K., C.V.).
    Objective: Mendelian randomization studies revealed a causal role for remnant cholesterol in cardiovascular disease. Remnant particles accumulate in the arterial wall, potentially propagating local and systemic inflammation. We evaluated the impact of remnant cholesterol on arterial wall inflammation, circulating monocytes, and bone marrow in patients with familial dysbetalipoproteinemia (FD). Read More

    Non-Clinical Study Examining AAV8.TBG.hLDLR Vector-Associated Toxicity in Chow-Fed Wild-Type and LDLR(+/-) Rhesus Macaques.
    Hum Gene Ther Clin Dev 2017 Mar;28(1):39-50
    1 Gene Therapy Program, Department of Medicine, University of Pennsylvania , Philadelphia, Pennsylvania.
    Vectors based on adeno-associated virus serotype 8 (AAV8) have been evaluated in several clinical trials of gene therapy for hemophilia B with encouraging results. In preparation for a Phase 1 clinical trial of AAV8 gene therapy for the treatment of homozygous familial hypercholesterolemia (HoFH), the safety of the clinical candidate vector, AAV8.TBG. Read More

    Nonclinical Pharmacology/Toxicology Study of AAV8.TBG.mLDLR and AAV8.TBG.hLDLR in a Mouse Model of Homozygous Familial Hypercholesterolemia.
    Hum Gene Ther Clin Dev 2017 Mar;28(1):28-38
    1 Gene Therapy Program, Department of Medicine, University of Pennsylvania , Philadelphia, Pennsylvania.
    The homozygous form of familial hypercholesterolemia (HoFH) is an excellent model for developing in vivo gene therapy in humans. The success of orthotropic liver transplantation in correcting the metabolic abnormalities in HoFH suggests that the correction of low-density lipoprotein receptor (LDLR) expression in hepatocytes via gene therapy should be sufficient for therapeutic efficacy. Vectors based on adeno-associated virus serotype 8 (AAV8) have been previously developed for liver-targeted gene therapy of a number of genetic diseases, including HoFH. Read More

    Predicting Cardiovascular Events in Familial Hypercholesterolemia: The SAFEHEART Registry (Spanish Familial Hypercholesterolemia Cohort Study).
    Circulation 2017 May 8;135(22):2133-2144. Epub 2017 Mar 8.
    From Cardiology Department, Hospital Clínico San Carlos, IDISSC, Universidad Complutense, Madrid, Spain (L.P.d.I.); Fundación Hipercolesterolemia Familiar, Madrid, Spain (L.P.d.I., R. Alonso, N.M., A.S., P.M.); Clínica las Condes, Santiago, Chile (R. Alonso); Department of Epidemiology, Madrid Health Authority, Madrid, Spain (N.M.); Clinical Epidemiology Unit, Servicio de Medicina Preventiva, Instituto de Investigación Sanitaria San Carlos, Universidad Complutense, Madrid, Spain (C.F.-P.); Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain (O.M.); Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain (J.L.D.-D.); Cardiology Department, Hospital del Tajo, Universidad Alfonso X el Sabio, Madrid, Spain (A.S.); Lipids and Atherosclerosis Unit, Instituto Maimónides de Investigación Biomédica de Córdoba/Reina Sofia University Hospital/University of Cordoba, Cordoba, Spain (F.F.-J.); Department of Internal Medicine, Fundación Jiménez Díaz, IIS, Madrid, Spain (R.d.A.); Department of Endocrinology, Hospital Clinic, Barcelona, Spain (D.Z.); Department of Internal Medicine, Hospital Universitario de Elche, Alicante, Spain (M.P.); Department of Internal Medicine, Hospital de Vega Baja, Orihuela, Alicante, Spain (J.M.C.); Department of Internal Medicine, Hospital de Terrassa, Barcelona, Spain (M.M.); Department of Internal Medicine, Hospital de Ciudad Real, Spain (J.G.); Department of Internal Medicine, Hospital de San Pedro, Logroño, Spain (A.B.); Department of Internal Medicine, Hospital San Pedro de Alcántara, Cáceres, Spain (J.F.S.M.-T.); Instituto Catalán Ciencias Cardiovasculares, Instituto de Investigación Biomédica-Sant Pau, Barcelona, Spain (T.P., L.B.); Department of Endocrinology, Hospital Universitario de Lugo, Spain (R. Argueso); Department of Internal Medicine, Hospital Universitariode Salamanca, Spain (J.P.M.-G.); Lipid Clinic Heart Institute (InCor), University of São Paulo Medical School Hospital and Preventive Centre and Cardiology Program, Hospital Israelita Albert Einstein, Brazil (R.D.S.); and Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia (G.F.W.).
    Background: Although risk factors for atherosclerotic cardiovascular disease (ASCVD) in familial hypercholesterolemia (FH) have been described, models for predicting incident ASCVD have not been reported. Our aim was to use the SAFEHEART registry (Spanish Familial Hypercholesterolemia Cohort Study) to define key risk factors for predicting incident ASCVD in patients with FH.

    Methods: SAFEHEART is a multicenter, nationwide, long-term prospective cohort study of a molecularly defined population with FH with or without previous ASCVD. Read More

    Lipoprotein (a) and coronary heart disease - is there an efficient secondary prevention?
    Clin Res Cardiol Suppl 2017 Mar;12(Suppl 1):18-21
    Clinic for Cardiology, Herz- und Diabeteszentrum NRW, Ruhr-Universität Bochum, Georgstr. 11, 32545, Bad Oeynhausen, Germany.
    Lipoprotein (a) (Lp (a)) is one risk factor for the development of cardiovascular diseases. Several studies have shown that Lp (a) hyperlipoproteinaemia has a particular influence on the development of coronary heart disease (CHD). A retrospective single-centre observation study was performed to evaluate the effectiveness of lipid apheresis on the basis of consecutively performed percutaneous coronary interventions (PCI) in patients with high Lp (a) values and angiographically documented CHD. Read More

    Primary and secondary prevention of cardiovascular disease in patients with hyperlipoproteinemia (a).
    Clin Res Cardiol Suppl 2017 Mar;12(Suppl 1):22-26
    2nd Medical Clinic - Nephrology, Hypertension and Vascular Diseases, AGAPLESION Markus-Hospital, Frankfurt/Main, Germany.
    General lipoprotein (Lp) (a) screening can help to identify patients at high risk for cardiovascular disease. Non-invasive methods allow early detection of clinically asymptomatic incipient atherosclerotic disease. Medical treatment options are still unsatisfactory. Read More

    The German Lipoprotein Apheresis Registry (GLAR) - almost 5 years on.
    Clin Res Cardiol Suppl 2017 Mar;12(Suppl 1):44-49
    Medizinische Klinik und Poliklinik 4, Universität München, Munich, Germany.
    Background: Since 2005 an interdisciplinary German apheresis working group has been established by members of both German Societies of Nephrology and of Lipidologists and completed the data set for the registry according to the current guidelines and the German indication guideline for apheresis in 2009. In 2011 the German Lipoprotein Apheresis Registry (GLAR) was launched and data are available over nearly 5 years now.

    Methods And Results: During the time period 2012-2016, 71 German apheresis centers collected retrospective and prospective observational data of 1435 patients undergoing lipoprotein apheresis (LA) treatment of high LDL-C levels and/or high Lp (a) levels suffering from cardiovascular disease (CVD) or progressive CVD. Read More

    Barriers to the Implementation of Lipoprotein Apheresis in Canada.
    Can J Cardiol 2017 Mar 21;33(3):409-411. Epub 2017 Jan 21.
    Department of Medicine, Division of Endocrinology and Metabolism, Schulich School of Medicine & Dentistry, Western University, London, Ontario, Canada.
    This article details the effectiveness of using lipoprotein apheresis (LA) rather than plasmapheresis in patients with homozygous familial hypercholesterolemia (HoFH), using results from the first HoFH pediatric patient treated with LA in Ontario. We further detail the barriers involved in adhering to international guidelines by implementing this as a first-line treatment for this condition in Ontario, and the potential savings that would be gained with treating the remaining HoFH patients in this province with LA. A primary barrier has been the division of responsibility that exists in Canada, where the delivery of medical services and the delivery of blood products are separated, artificially discounting the price of plasmapheresis and making it seem like the less expensive option. Read More

    Incidence of elevated lipoprotein (a) levels in a large cohort of patients with cardiovascular disease.
    Clin Res Cardiol Suppl 2017 Mar;12(Suppl 1):55-59
    Clinic for Cardiology, Herz- und Diabeteszentrum NRW, Ruhr-Universität Bochum, Georgstr. 11, 32545, Bad Oeynhausen, Germany.
    Background: Recently it has been demonstrated that elevated lipoprotein (a) (LPA) levels are associated with an increased risk of cardiovascular disease across multiple ethnic groups. However, there is only scanty data about the incidence of elevated LPA levels in different patient cohorts. As a consequence, we aimed to examine whether patients with elevated LPA levels might be seen more often in a cardiovascular center in comparison to the general population. Read More

    ScreenPro FH - Screening Project for Familial Hypercholesterolemia in Central, Southern and Eastern Europe: Rationale and Design.
    Vnitr Lek Winter 2017;63(1):43-48
    Familial hypercholesterolemia (FH) is a genetic disorder with well-known genetic transmission and clinical course. Despite great recent progress, FH is still underestimated, under-diagnosed and thus undertreated. Furthermore it represents a significant healthcare challenge as a common risk factor for the premature development of coronary heart disease. Read More

    ScreenPro FH - Screening Project for Familial Hypercholesterolemia in Central, Southern and Eastern Europe: Basic Epidemiology.
    Vnitr Lek Winter 2017;63(1):25-30
    Introduction: Despite great recent progress, familial hypercholesterolemia (FH) is still underestimated, under-diagnosed and thus undertreated worldwide. We have very little information on exact prevalence of patients with FH in the Central, Eastern and Southern Europe (CESE) region. The aim of the study was to describe the epidemiological situation in the CESE region from data available. Read More

    A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis.
    J Clin Endocrinol Metab 2017 May;102(5):1454-1457
    Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104.
    Context: Familial chylomicronemia syndrome (FCS) is a rare heritable disorder associated with severe hypertriglyceridemia and recurrent pancreatitis. Lipoprotein lipase deficiency and apolipoprotein C-II deficiency are two well-characterized autosomal recessive causes of FCS, and three other genes have been described to cause FCS. Because therapeutic approaches can vary according to the underlying etiology, it is important to establish the molecular etiology of FCS. Read More

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