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    7879 results match your criteria Hypercholesterolemia Familial

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    AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF DYSLIPIDEMIA AND PREVENTION OF CARDIOVASCULAR DISEASE.
    Endocr Pract 2017 Apr;23(Suppl 2):1-87
    Objective: The development of these guidelines is mandated by the American Association of Clinical Endocrinologists (AACE) Board of Directors and American College of Endocrinology (ACE) Board of Trustees and adheres with published AACE protocols for the standardized production of clinical practice guidelines (CPGs).

    Methods: Recommendations are based on diligent reviews of the clinical evidence with transparent incorporation of subjective factors, according to established AACE/ACE guidelines for guidelines protocols.

    Results: The Executive Summary of this document contains 87 recommendations of which 45 are Grade A (51. Read More

    Novel protein biomarkers associated with coronary artery disease in statin-treated patients with familial hypercholesterolemia.
    J Clin Lipidol 2017 Apr 4. Epub 2017 Apr 4.
    School of Medicine, Faculty of Medical and Health Sciences, University of Western Australia, Perth, Australia; School of Biomedical Sciences & Curtin Health Innovation Research Institute, Curtin University, Perth, Australia. Electronic address:
    Background: Familial hypercholesterolemia (FH) is the most common and serious monogenic disorder of lipid metabolism. The incidence of coronary artery disease (CAD) varies among both treated and untreated FH patients.

    Objective: The aim of the study was to utilize proteomics to identify novel protein biomarkers that differentiate genetically confirmed heterozygous patients with FH at high CAD risk from those at low CAD risk. Read More

    How to implement clinical guidelines to optimise familial hypercholesterolaemia diagnosis and treatment.
    Atheroscler Suppl 2017 Apr;26:25-35
    Department of Internal Medicine, Centres Hospitaliers Jolimont, Haine Saint-Paul, Belgium.
    Background And Aims: Familial hypercholesterolaemia (FH) is a genetic disorder associated with significantly elevated plasma low-density lipoprotein cholesterol (LDL-C) and premature coronary heart disease (CHD). Optimal management of FH relies on early identification and treatment with statins alone or in combination with other lipid-lowering therapies. A lack of awareness of FH and its manifestations among primary care physicians and specialists has led to many individuals being misdiagnosed in the early stages of the disease, further increasing the risk of CHD and requiring much more intensive lipid-lowering strategies. Read More

    Efficacy of Lomitapide in the Treatment of Familial Homozygous Hypercholesterolemia: Results of a Real-World Clinical Experience in Italy.
    Adv Ther 2017 Apr 21. Epub 2017 Apr 21.
    Department of Internal Medicine and Clinical Specialties, Policlinico Umberto 1, "Sapienza" University of Rome, Rome, Italy.
    Introduction: Homozygous familial hypercholesterolaemia (HoFH) is a rare form of inherited dyslipidemia resistant to conventional cholesterol-lowering medications so that lipoprotein apheresis (LA) is usually required. Lomitapide has been approved for the treatment of HoFH. The aim of this study was to evaluate the benefits of lomitapide in HoFH patients followed with the usual clinical care. 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

    Genetics of Dyslipidemia and Ischemic Heart Disease.
    Curr Cardiol Rep 2017 May;19(5):46
    The Ohio State University Wexner Medical Center, Suite 200, 473 West 12th Avenue, Columbus, OH, 43210, USA.
    Purpose Of Review: Genetic dyslipidemias contribute to the prevalence of ischemic heart disease. The field of genetic dyslipidemias and their influence on atherosclerotic heart disease is rapidly developing and accumulating increasing evidence. The purpose of this review is to describe the current state of knowledge in regard to inherited atherogenic dyslipidemias. Read More

    Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish.
    Diabetes 2017 Apr 20. Epub 2017 Apr 20.
    Program in Personalized and Genomic Medicine, and Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD
    Alleles associated with lower levels of low density lipoprotein 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 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 age-matched relatives without FH. Read More

    Beyond cascade screening: detection of familial hypercholesterolaemia at childhood immunization and other strategies.
    Curr Opin Lipidol 2017 Apr 19. Epub 2017 Apr 19.
    aDepartment of General Paediatrics, Princess Margaret Hospital for Children bSchool of Paediatrics and Child Health cFaculty of Health and Medical Sciences, School of Medicine, University of Western Australia dLipid Disorders Clinic, Cardiometabolic Service, Department of Cardiology, Royal Perth Hospital, Perth eGeneral Practice and Primary Care Research, School of Medicine, The University of Notre Dame Australia, Fremantle, Western Australia, Australia.
    Purpose Of Review: Familial hypercholesterolaemia is a common genetic disorder that accelerates premature coronary heart disease. Although effective treatments are available, the majority of individuals remain undiagnosed. We review new evidence for improving the detection of familial hypercholesterolaemia. Read More

    Pravastatin Chronic Treatment Sensitizes Hypercholesterolemic Mice Muscle to Mitochondrial Permeability Transition: Protection by Creatine or Coenzyme Q10.
    Front Pharmacol 2017 5;8:185. Epub 2017 Apr 5.
    Departamento de Patologia Clínica, Faculdade de Ciências Médicas, Universidade Estadual de CampinasSão Paulo, Brazil.
    Statins are efficient cholesterol-lowering medicines utilized worldwide. However, 10% of patients suffer from adverse effects specially related to skeletal muscle function. Pro- or anti-oxidant effects of statins have been reported. Read More

    Mast cells emerge as mediators of atherosclerosis: Special emphasis on IL-37 inhibition.
    Tissue Cell 2017 Apr 12. Epub 2017 Apr 12.
    Molecular Immunopharmacology and Drug Discovery Laboratory, Department of Integrative Physiology and Pathobiology, Tufts University School of Medicine, Boston, MA, USA.
    In atherosclerosis lipoproteins stimulate the innate immune response, leading to the release of inflammatory cytokines and chemokines. Hypercholesterolemia may activate the synthesis and release of inflammatory cytokines such as IL-1, which induces TNF release in mast cells (MCs). IL-1 and IL-1 family members orchestrate a broadening list of inflammatory diseases, including atherosclerosis. Read More

    The European Association of Preventive Cardiology Exercise Prescription in Everyday Practice and Rehabilitative Training (EXPERT) tool: A digital training and decision support system for optimized exercise prescription in cardiovascular disease. Concept, definitions and construction methodology.
    Eur J Prev Cardiol 2017 Jan 1:2047487317702042. Epub 2017 Jan 1.
    37 Department of Health Sciences, University of York, UK.
    Background Exercise rehabilitation is highly recommended by current guidelines on prevention of cardiovascular disease, but its implementation is still poor. Many clinicians experience difficulties in prescribing exercise in the presence of different concomitant cardiovascular diseases and risk factors within the same patient. It was aimed to develop a digital training and decision support system for exercise prescription in cardiovascular disease patients in clinical practice: the European Association of Preventive Cardiology Exercise Prescription in Everyday Practice and Rehabilitative Training (EXPERT) tool. Read More

    Carotid intima-media thickness and arterial stiffness in pediatric systemic lupus erythematosus.
    Lupus 2017 Jan 1:961203317692434. Epub 2017 Jan 1.
    Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Thailand.
    Objectives The carotid intima-media thickness (CIMT) and carotid arterial stiffness index (CASI) act as the surrogate markers of atherosclerosis. We aim to assess CIMT and CASI in pediatric systemic lupus erythematosus (SLE). Methods Patients ≤ 20 years old fulfilling diagnostic criteria for SLE were enrolled. Read More

    Pitavastatin versus pravastatin in adults with HIV-1 infection and dyslipidaemia (INTREPID): 12 week and 52 week results of a phase 4, multicentre, randomised, double-blind, superiority trial.
    Lancet HIV 2017 Apr 13. Epub 2017 Apr 13.
    AIDS Research Consortium of Atlanta, Atlanta, GA, USA.
    Background: People living with HIV-1 infection are at greater risk for cardiovascular disease than seronegative adults. Treatment of dyslipidaemia with statins has been challenging in people with HIV because of an increased potential for drug interactions due to competing cytochrome P450 metabolism between statins and commonly used antiretroviral agents. Neither pitavastatin nor pravastatin depend on cytochrome P450 for primary metabolism. Read More

    Potential role of lycopene in targeting proprotein convertase subtilisin/kexin type-9 to combat hypercholesterolemia.
    Free Radic Biol Med 2017 Apr 12;108:394-403. Epub 2017 Apr 12.
    Clinical Biochemistry & Natural Product Research Lab., Department of Biosciences, Integral University, Lucknow 226026, India. Electronic address:
    Proprotein convertase subtilisin/kexin type 9 (PCSK-9) is a serine protease of the proprotien convertase (PC) family that has profound effects on plasma low density lipoprotein cholesterol (LDL-C) levels, the major risk factor for coronary heart disease (CHD), through its ability to mediate LDL receptor (LDL-R) protein degradation and reduced recycling to the surface of hepatocytes. Thus, the current study was premeditated not only to evaluate the role of lycopene in targeting the inhibition of PCSK-9 via modulation of genes involved in cholesterol homeostasis in HFD rats but also to examine a correlation between HFD induced inflammatory cascades and subsequent regulation of PCSK-9 expression. Besides the effect of lycopene on hepatic PCSK-9 gene expression, PPI studies for PCSK-9-Lycopene complex and EGF-A of LDL-R were also performed via molecular informatics approach to assess the dual mode of action of lycopene in LDL-R recycling and increased removal of circulatory LDL-C. Read More

    [Prevalence of cardiovascular risk factors in urban and rural communities in the Wilaya of Tlemcen (Algeria): A comparative study].
    Rev Epidemiol Sante Publique 2017 Apr 11. Epub 2017 Apr 11.
    Service de cardiologie, centre hospitalier universitaire de Tlemcen, Tlemcen, Algérie.
    Background: In Algeria, few studies have been conducted to determine the prevalence of genetic and environmental risk factors of cardiovascular diseases as a function of residence. The objective of this study was therefore to determine the prevalence of cardiovascular risk factors according to sex and age in urban and rural communities in the Wilaya of Tlemcen (Algeria).

    Material And Methods: A population survey was conducted on a representative sample of 864 individuals aged 20years and over, among inhabitants in urban and rural communes in the Wilaya of Tlemcen. Read More

    Genetic Architecture of Familial Hypercholesterolaemia.
    Curr Cardiol Rep 2017 May;19(5):44
    Institute of Cardiovascular Science, University College London, 5 University St, London, WC1E 6JF, UK.
    Purpose Of Review: Familial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol level from birth and a high risk of premature coronary heart disease. In this paper, we review the genetic basis of FH and its impact on the clinical presentation.

    Recent Findings: Mutations in any of three genes (LDLR, APOB and PCSK9) are known to cause autosomal dominant FH, but a mutation can be found in only ∼40% of patients with a clinical diagnosis of FH. Read More

    A decade of progress on the genetic basis of coronary artery disease. Practical insights for the internist.
    Eur J Intern Med 2017 Apr 7. Epub 2017 Apr 7.
    Department of Medicine, Section of Internal Medicine, University of Verona, Italy.
    Clinicians are well aware of the importance of a positive family history for coronary artery disease (CAD). Nonetheless, elucidation of the genetic basis of CAD has long proven difficult. The scenario changed in the last decade through the application of modern genomic technologies, like genome-wide association studies (GWAS) and next generation sequencing (NGS). Read More

    The Montreal-FH-SCORE: A new score to predict cardiovascular events in familial hypercholesterolemia.
    J Clin Lipidol 2017 Jan - Feb;11(1):80-86. Epub 2016 Oct 13.
    Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Montreal, Québec, Canada; Department of Medicine, Division of Experimental Medicine, McGill University, Montreal, Québec, Canada; Department of Medicine, Division of Medical Biochemistry, McGill University, Montreal, Québec, Canada. Electronic address:
    Background: Familial hypercholesterolemia (FH) is characterized by extremely high low-density lipoprotein cholesterol (LDL-C) concentration and premature cardiovascular disease (CVD). Not all FH patients present the same CVD risk, and currently, there is no clinical tool to assess this risk.

    Objective: The objectives of this cross-sectional cohort study are twofold: to identify the strongest predictors of CVD in patients with FH and to develop a new score to identify FH patients at very high CVD risk. Read More

    Low-density lipoprotein receptor-negative compound heterozygous familial hypercholesterolemia: Two lifetime journeys of lipid-lowering therapy.
    J Clin Lipidol 2017 Jan - Feb;11(1):301-305. Epub 2017 Jan 12.
    Department of Internal Medicine, Section Pharmacology, Vascular and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, The Netherlands; Expert Centre for Rare Lipid Disorders, Erasmus MC, Rotterdam, The Netherlands. Electronic address:
    We present the case history of 2 patients with low-density lipoprotein receptor-negative compound heterozygous familial hypercholesterolemia who did not receive lipoprotein apheresis. We describe the subsequent effect of all lipid-lowering medications during their life course including resins, statins, ezetimibe, nicotinic acid/laropiprant, mipomersen, and lomitapide. These cases tell the story of siblings affected with this rare disease, who are free of symptoms but still are at a very high cardiovascular disease risk, and their treatment from childhood. Read More

    Heterozygous familial hypercholesterolemia presenting as chylomicronemia syndrome.
    J Clin Lipidol 2017 Jan - Feb;11(1):294-296. Epub 2016 Dec 21.
    Department of Medicine and Robarts Research Institute, Schulich School of Medicine, Western University, London, ON, Canada.
    Heterozygous familial hypercholesterolemia (HeFH) is characterized by a twofold elevation in low-density lipoprotein cholesterol. Severe elevations in triglycerides are an uncommon manifestation. In this case report, we discuss an atypical presentation of the chylomicronemia syndrome in a patient with HeFH. Read More

    Severe decrease in high-density lipoprotein cholesterol with the combination of fibrates and ezetimibe: A case series.
    J Clin Lipidol 2017 Jan - Feb;11(1):289-293. Epub 2016 Nov 2.
    Department of Endocrinology, Metabolic diseases and Nutrition, l'institut du thorax, CHU de Nantes, Nantes, France; CRNH, Human Nutrition Research Center, CHU, Nantes, France; INRA, UMR 1280, Physiologie des Adaptations Nutritionnelles, CHU Hôtel-Dieu, Nantes, France.
    A sudden and severe drug-induced decrease in plasma high-density lipoprotein cholesterol (HDL-C) is a rare condition. We report 2 patients with familial hypercholesterolemia treated with statins and fibrates and 2 others with mixed dyslipidemia treated with fibrates, who presented with a sudden and severe decrease in HDL-C (from -44% to -95%, compared with baseline). Three of the patients were treated with fibrates and had a sudden decrease in HDL-C after the adjunction of ezetimibe. Read More

    Cost-effectiveness of a cascade screening program for the early detection of familial hypercholesterolemia.
    J Clin Lipidol 2017 Jan - Feb;11(1):260-271. Epub 2017 Jan 10.
    Fundación Hipercolesterolemia Familiar, Madrid, Spain.
    Background: Although familial hypercholesterolemia (FH) confers a high risk of coronary artery disease, most patients are undiagnosed, and little is known about the efficiency of genetic cascade screening programs at national level.

    Objective: The aim of the study was to estimate the cost-effectiveness of a national genetic cascade screening program in Spain.

    Methods: An economic evaluation was performed using a decision tree analysis. Read More

    Efficacy and safety of the proprotein convertase subtilisin/kexin type 9 monoclonal antibody alirocumab vs placebo in patients with heterozygous familial hypercholesterolemia.
    J Clin Lipidol 2017 Jan - Feb;11(1):195-203.e4. Epub 2016 Dec 28.
    Lipid Clinic, Point Médical, Dijon, France.
    Background: Patients with heterozygous familial hypercholesterolemia (HeFH) are characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels. Long-term effects of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibition have not been thoroughly investigated in these patients.

    Objective: We evaluated efficacy and safety of alirocumab, a PCSK9 inhibitor, vs placebo in patients with HeFH. Read More

    Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.
    J Clin Lipidol 2017 Jan - Feb;11(1):160-166. Epub 2016 Nov 23.
    Fundación Hipercolesterolemia Familiar, Madrid, Spain.
    Background: There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region.

    Objective: To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay. Read More

    Transitioning from pediatric to adult health care with familial hypercholesterolemia: Listening to young adult and parent voices.
    J Clin Lipidol 2017 Jan - Feb;11(1):147-159. Epub 2016 Nov 9.
    Institute for Clinical Research and Health Policy Studies, Tufts Medical Center, Boston, MA, USA; Department of Pediatrics, Floating Hospital for Children at Tufts Medical Center, Boston, MA, USA; Tufts Clinical and Translational Science Institute, Tufts Medical Center, Boston, MA, USA; American Board of Pediatrics, Chapel Hill, NC, USA. Electronic address:
    Background: Young adults with familial hypercholesterolemia (FH) are at a critical period for establishing behaviors to promote future cardiovascular health.

    Objective: To examine challenges transitioning to adult care for young adults with FH and parents of FH-affected young adults in the context of 2 developmental tasks, transitioning from childhood to early adulthood and assuming responsibility for self-management of a chronic disorder.

    Methods: Semistructured, qualitative interviews were conducted with 12 young adults with FH and 12 parents of affected young adults from a pediatric subspecialty preventive cardiology program in a northeastern academic medical center. Read More

    Autosomal dominant familial dysbetalipoproteinemia: A pathophysiological framework and practical approach to diagnosis and therapy.
    J Clin Lipidol 2017 Jan - Feb;11(1):12-23.e1. Epub 2016 Oct 13.
    Department of Chemical Pathology, University of Cape Town Health Science Faculty, Cape Town, South Africa. Electronic address:
    Familial dysbetalipoproteinemia (FD) is a genetic disorder of lipoprotein metabolism associated with an increased risk for premature cardiovascular disease. In about 10% of the cases, FD is caused by autosomal dominant mutations in the apolipoprotein E gene (APOE). This review article provides a pathophysiological framework for autosomal dominant FD (ADFD) and discusses diagnostic challenges and therapeutic options. Read More

    Familial hypercholesterolemia in childhood and adolescents: A hidden reality.
    Clin Investig Arterioscler 2017 Apr 5. Epub 2017 Apr 5.
    Unitat de Medicina Vascular i Metabolisme, Hospital Universitari Sant Joan de Reus, Unitat d'Investigació en Lípids i Arteriosclerosi, Universitat Rovira i Virgili, Institut d'Investigació Sanitària Pere Virgili (IISPV), Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas (CIBERDEM), Reus, Tarragona, España.
    Familial hypercholesterolemia (FH) is the most common genetic disorder in childhood, but in most cases is not detected. High levels of low-density lipoprotein cholesterol are present since the child's birth and this fact will suppose silent development of early atherosclerosis. In cases of homozygous FH, the coronary disease will appear before 20s and in cases of heterozygous FH will occur in middle age. Read More

    A Drug Screen using Human iPSC-Derived Hepatocyte-like Cells Reveals Cardiac Glycosides as a Potential Treatment for Hypercholesterolemia.
    Cell Stem Cell 2017 Apr;20(4):478-489.e5
    Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA; Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, 173 Ashley Avenue, Charleston, SC 29425, USA; Hollings Cancer Center, Medical University of South Carolina, 86 Jonathan Lucas Street, MSC 955, Charleston, SC 29425, USA. Electronic address:
    Efforts to identify pharmaceuticals to treat heritable metabolic liver diseases have been hampered by the lack of models. However, cells with hepatocyte characteristics can be produced from induced pluripotent stem cells (iPSCs). Here, we have used hepatocyte-like cells generated from homozygous familial hypercholesterolemia (hoFH) iPSCs to identify drugs that can potentially be repurposed to lower serum LDL-C. Read More

    Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK.
    Eur Heart J 2017 Apr 6. Epub 2017 Apr 6.
    Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, 5 University Street, London WC1E 6JJ, UK.
    Aims: Familial hypercholesterolaemia (FH) is a vastly under-diagnosed genetic disorder, associated with early development of coronary heart disease and premature mortality which can be substantially reduced by effective treatment. Patents have recently expired on high-intensity statins, reducing FH treatment costs. We build a model using UK data to estimate the cost effectiveness of DNA testing of relatives of those with monogenic FH. Read More

    Lipoprotein apheresis in the treatment of dyslipidaemia - the Czech Republic experience.
    Physiol Res 2017 Apr;66(Supplementum 1):S91-S100
    Third Department of Internal Medicine, Metabolism and Gerontology, University Hospital Hradec Králové and Charles University Faculty of Medicine in Hradec Králové, Hradec Králové, Czech Republic.
    In 1984, we started using therapeutic plasmapheresis (plasma exchange) as a method of extracorporeal lipoprotein elimination for the treatment of hypercholesterolemic patients. We evaluated the results of long-term therapy in 14 patients, 8 men and 6 women. The average age was 55. 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

    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

    VLDL/LDL acts as a drug carrier and regulates the transport and metabolism of drugs in the body.
    Sci Rep 2017 Apr 4;7(1):633. Epub 2017 Apr 4.
    Department of Pharmacy, The University of Tokyo Hospital, Faculty of Medicine, The University of Tokyo, Tokyo, 113-8655, Japan.
    Only free drugs have been believed to be carried into tissues through active or passive transport. However, considering that lipoproteins function as carriers of serum lipids such as cholesterol and triglycerides, we hypothesized that lipoproteins can associate with certain drugs and mediate their transport into tissues in lipid-associated form. Here, in vitro and in vivo studies with low density lipoprotein receptor (LDLR)-overexpressing or -knockdown cells and wild-type or LDLR-mutant mice were used to show the association of various drugs with lipoproteins and the uptake of lipoprotein-associated drugs through a lipoprotein receptor-mediated process. Read More

    High prevalence of coronary artery calcification in Saudi patients with normal myocardial perfusion.
    Ann Saudi Med 2017 Mar-Apr;37(2):154-160
    Dr. Ahmed L. Fathala, MBC 28 King Faisal Specialist Hospital & Research Centre,, PO Box 3354 Riyadh, 11211, Saudi Arabia, T: +966-11-4647272, F: +966-11-4424841, ORCID: http://orcid.org/0000-0002-2436-4226.
    Background: Normal single-photon emission computed tomography (SPECT) myocardial perfusion imaging (MPI) has a high negative predictive value for ischemic heart disease. Thus, the presence of subclinical coronary atherosclerosis detected by coronary artery calcification (CAC) score in patients who have under-gone SPECT MPI is unknown.

    Objectives: Determine the prevalence of coronary artery calcification (CAC) in patients with normal SPECT MPI and examine the association of CAC with conventional coronary artery disease (CAD) risk factors. Read More

    Cost-Effectiveness of Evolocumab in Patients With High Cardiovascular Risk in Spain.
    Clin Ther 2017 Mar 30. Epub 2017 Mar 30.
    University of Sheffield, Sheffield, United Kingdom.
    Purpose: Our objective was to assess the cost-effectiveness of evolocumab in patients at high risk of cardiovascular (CV) events from the Spanish National Health System perspective.

    Methods: A Markov model was used to assess the cost-effectiveness (incremental [∆] cost per ∆ quality-adjusted life-year [QALY]; or cost utility) of evolocumab plus standard of care (SoC; statins) versus SoC, assuming lifetime treatment. Cohorts with baseline LDL-C >100 mg/dL and familial hypercholesterolemia (FH) or CV event history (secondary prevention [SP]) were considered. Read More

    Regulation of PCSK9 by nutraceuticals.
    Pharmacol Res 2017 Mar 29;120:157-169. Epub 2017 Mar 29.
    Biotechnology Research Center, Mashhad University of Medical Sciences, Mashhad 9177948564, Iran; Metabolic Research Centre, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Perth, Australia. Electronic address:
    PCSK9 (proprotein convertase subtilisin kexin type 9) is a liver secretory enzyme that regulates plasma low-density lipoprotein (LDL) cholesterol (LDL-C) levels through modulation of LDL receptor (LDLR) density on the surface of hepatocytes. Inhibition of PCSK9 using monoclonal antibodies can efficiently lower plasma LDL-C, non-high-density lipoprotein cholesterol and lipoprotein (a). PCSK9 inhibition is also an effective adjunct to statin therapy; however, the cost-effectiveness of currently available PCSK9 inhibitors is under question. Read More

    A genomic DNA reporter screen identifies squalene synthase inhibitors which act cooperatively with statins to upregulate the low-density lipoprotein receptor.
    J Pharmacol Exp Ther 2017 Mar 30. Epub 2017 Mar 30.
    University of Oxford;
    Hypercholesterolaemia remains one of the leading risk factors for the development of cardiovascular disease. Many large double-blind studies have demonstrated that lowering LDL-cholesterol using a statin can reduce the risk of having a cardiovascular event by ~30%. However, despite the success of statins, some patient populations are unable to lower their LDL-cholesterol to meet the targeted lipid levels, due to compliance or potency issues. Read More

    Centralized Pan-Middle East Survey on the Under-Treatment of Hypercholesterolemia: Results from the CEPHEUS II Study in Egypt.
    Cardiol Ther 2017 Mar 29. Epub 2017 Mar 29.
    Cairo University, Egypt, 12 Dokki Street, Dokki, Giza, Egypt.
    Introduction: As part of the CEPHEUS study, CEPHEUS I was conducted in 2010 and 2011 in Cairo and then the CEPHEUS II study was carried out in Alexandria and Delta Regions in Egypt between April 2014 and August 2015 to determine the proportion of dyslipidemic patients on lipid-lowering treatment reaching LDL-C treatment goals.

    Methods: We conducted an open-label, observational, multicenter, cross-sectional survey where 90 investigators enrolled 1127 patients receiving lipid-lowering drugs for at least 3 months. After signing informed consent forms, the study questionnaires were completed by patients and investigators. Read More

    Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia.
    Eur J Prev Cardiol 2017 Jan 1:2047487317702040. Epub 2017 Jan 1.
    3 CEINGE S.c.a r.l. Biotecnologie Avanzate, Napoli, Italy.
    Background Familial hypercholesterolemia is a common autosomal dominant disease, caused by mutations leading to elevated low-density lipoprotein (LDL) cholesterol and, if untreated, to premature cardiovascular disease. Methods Patients (young adults with a family history of hypercholesterolaemia or premature cardiovascular disease) with LDL cholesterol concentration ≥4.9 mmol/l, after excluding Familial Combined Hyperlipidaemia, were evaluated for causative mutations, Dutch Lipid Clinic Network score calculation and non-invasive ultrasound examination of carotid arteries. 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

    Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC).
    Atherosclerosis 2017 May 8;260:47-55. Epub 2017 Mar 8.
    Genetic Epidemiology Group, Institute of Cardiovascular Science, Farr Institute for Health Informatics, University College London, London, UK. Electronic address:
    Background And Aims: Familial hypercholesterolaemia (FH) is an autosomal-dominant disease with frequency of 1/500 to 1/250 that leads to premature coronary heart disease. New approaches to identify FH mutation-carriers early are needed to prevent premature cardiac deaths. In a cross-sectional study of the Avon Longitudinal Study of Parents and Children (ALSPAC), we evaluated the biochemical thresholds for FH screening in childhood, and modelled a two-stage biochemical and sequencing screening strategy for FH detection. Read More

    Multidrug-resistant Acinetobacter meningitis in children.
    J Family Med Prim Care 2016 Oct-Dec;5(4):858-859
    Department of Pediatrics, B. J. Wadia Hospital for Children, Mumbai, Maharashtra, India.
    Acinetobacter species have emerged as one of the most troublesome pathogens for healthcare institutions globally. In more recent times, nosocomial infections involving the central nervous system, skin and soft tissue, and bone have emerged as highly problematic. Acinetobacter species infection is common in intensive care units; however, Acinetobacter baumannii meningitis is rarely reported. Read More

    Subclinical hypothyroidism and the risk of hypercholesterolemia.
    J Family Med Prim Care 2016 Oct-Dec;5(4):809-816
    Department of General Medicine, Lourdes Hospital, Kochi, Kerala, India.
    Introduction: Subclinical hypothyroidism (SCH) is a condition wherein there are small elevations in thyroid stimulating hormone (TSH), yet normal circulating levels of free thyroid hormones (FT4). Alterations in thyroid function result in changes in composition and transport of lipoproteins.

    Methods: The study was undertaken in the outpatient department of Lourdes hospital, Ernakulam. Read More

    Use of Lipid-Modifying Therapy and LDL-C Goal Attainment in a High-Cardiovascular-Risk Population in the Netherlands.
    Clin Ther 2017 Mar 24. Epub 2017 Mar 24.
    PHARMO Institute for Drug Outcomes Research, Utrecht, the Netherlands.
    Purpose: This study investigates lipid-modifying therapy (LMT) and LDL-C goal attainment in a real-world, high-cardiovascular-risk population in the Netherlands.

    Methods: From the PHARMO Database Network, patients aged ≥18 years with an LDL-C measurement in 2012 (index date) were selected and hierarchically classified into the following mutually exclusive high-cardiovascular-risk categories: familial hypercholesterolemia (FH), recent acute coronary syndrome (ACS), coronary heart disease, ischemic stroke, peripheral arterial disease, and diabetes mellitus. LMT use and LDL-C goal attainment at the index date was assessed. Read More

    Determinants of Treatment Modification in Hypercholesterolemic Patients.
    Acta Cardiol Sin 2017 Mar;33(2):156-164
    School of Medicine, National Yang-Ming University; ; General Clinical Research Center; ; Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.
    Background: There is a lack of knowledge of those contemporary factors associated with modifying subtherapeutic treatments in hypercholesterolemic patients. The aim of this study was to assess determinants of treatment modification in patients not attaining their low-density lipoprotein cholesterol goals.

    Methods: The CEntralized Pan-Asian survey on tHE Under-treatment of hypercholeSterolemia enrolled patients taking stable lipid-lowering medications. Read More

    Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration.
    J Atheroscler Thromb 2017 Mar 24. Epub 2017 Mar 24.
    Centre for Comparative Genomics, Murdoch University, Murdoch.
    Familial Hypercholesterolemia (FH) is the most common and serious monogenic disorder of lipoprotein metabolism that leads to premature coronary heart disease. There are over 65,000 people estimated to have FH in Australia, but many remain undiagnosed. Patients with FH are often under-treated, but with early detection, cascade family testing and adequate treatment, patient outcomes can improve. Read More

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