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    7775 results match your criteria Hypercholesterolemia Familial

    1 OF 156

    Lipoprotein(a) and inhibitors of proprotein convertase subtilisin/kexin type 9.
    J Thorac Dis 2017 Jan;9(1):E78-E82
    Department of Hypertension, Chair of Nephrology and Hypertension, Medical University of Lodz, Lodz, Poland.
    Lipoprotein(a) [Lp(a)] has been identified as a risk factor for cardiovascular disease. Lp(a) levels are also high under certain clinical conditions, including familial hypercholesterolemia and high blood low-density lipoprotein (LDL) cholesterol levels. Few effective generic therapies for modulating Lp(a) have been developed. Read More

    An online questionnaire survey of UK general practitioners' knowledge and management of familial hypercholesterolaemia.
    BMJ Open 2016 Nov 9;6(11):e012691. Epub 2016 Nov 9.
    Cardiovascular Trials Unit, The Old St Mary's Hospital, Manchester, UK.
    Objective: Early diagnosis and treatment of heterozygous familial hypercholesterolaemia (HeFH) is known to be associated with reduced mortality from premature coronary artery disease, but HeFH remains underdiagnosed. This survey aims to determine knowledge and current management of HeFH in general practice.

    Setting: An online questionnaire was administered to general practitioners' (GPs') in the North West of England to assess their knowledge and management of HeFH. Read More

    Clinical determinants and treatment gaps in familial hypercholesterolemia: Data from a multi-ethnic regional health service.
    Eur J Prev Cardiol 2017 Jan 1:2047487317693132. Epub 2017 Jan 1.
    3 Clalit Health Services, Haifa and Western Galilee District, Israel.
    Background Familial hypercholesterolemia is characterized by markedly increased low-density lipoprotein cholesterol and risk for premature atherosclerotic cardiovascular disease. Models of care vary and reflect differing health policies and resources. The availability of electronic databases may enable better identification and assessment of familial hypercholesterolemia in the community. Read More

    Left main coronary angioplasty of a 9-year-old child with bioresorable vascular scaffold.
    Catheter Cardiovasc Interv 2017 Feb 10. Epub 2017 Feb 10.
    Cardiac Cath Lab, Fortis Hospitals, Mumbai, 400078, India.
    Familial hypercholesterolemia is an autosomal dominant disorder due to mutations in the low-density lipoprotein receptor gene, characterized by skin and tendon xanthomas, xanthelasmas, and increased risk of premature coronary artery disease. Here, we report a case of 9-year-old girl who presented with angina and dyspnoea on exertion with xanthomas and an elevated serum cholesterol and triglyceride. She had severe stenosis of the left main coronary artery (LMCA) requiring angioplasty and placement of Bioresorbable vascular scaffold (BVS). Read More

    Association Between Posterior Left Atrial Adipose Tissue Mass and Atrial Fibrillation.
    Circ Arrhythm Electrophysiol 2017 Feb;10(2)
    From the Department of Cardiology (A.R.v.R., A.C.D.-L., P.J.v.R., M.L., J.M.S., B.W.H.v.d.A., A.J.S., V.D., J.J.B.), Division of Image Processing (R.J.v.d.G.), Department of Medical Statistics and Bio-informatics (E.W.v.Z.), Leiden University Medical Center, The Netherlands; Netherlands Heart Institute, Utrecht, The Netherlands (A.R.v.R.); Department of Cardiology, Liverpool Hospital, University of New South Wales, Sydney, Australia (M.L.); and The Turku PET Centre, Finland (A.S., J.K.).
    Background: Epicardial adipose tissue located close to the atrial wall can change the electric conduction of the left atrium, potentially leading to atrial fibrillation (AF). The aim of this study was to assess whether an increased atrial adipose tissue mass posterior to the left atrium is related to AF independent of demographical and cardiovascular risk factors.

    Methods And Results: Two hundred patients with AF and 200 patients without AF who underwent computed tomographic angiography were included. Read More

    Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan.
    J Atheroscler Thromb 2017 Feb 8. Epub 2017 Feb 8.
    Division of Clinical Lipidology, Department of Cardiology, Kanazawa University.
    Familial hypercholesterolemia (FH) is a disease characterized by a triad: elevated low-density lipoprotein (LDL) cholesterol, tendon xanthomas, and premature coronary heart disease. Thus, it can be considered as a model disease for hypercholesterolemia and atherosclerotic cardiovascular disease (ASCVD). For the diagnosis of hetero-FH, the detection of Achilles tendon xanthomas by palpation or on X-ray is an indispensable diagnostic skill in clinical lipidology. Read More

    Molecular basis of familial hypercholesterolemia.
    Curr Opin Cardiol 2017 Feb 4. Epub 2017 Feb 4.
    Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands.
    Purpose Of Review: To provide an overview about the molecular basis of familial hypercholesterolemia.

    Recent Findings: Familial hypercholesterolemia is a common hereditary cause of premature coronary heart disease. It has been estimated that 1 in every 250 individuals has heterozygous familial hypercholesterolemia and that fewer than 1% of patients with familial hypercholesterolemia have been identified across the globe. Read More

    The role of registries and genetic databases in familial hypercholesterolemia.
    Curr Opin Lipidol 2017 Feb 6. Epub 2017 Feb 6.
    aThe FH Foundation, Pasadena, California, USA bFundacion Hipercolesterolemia Familiar, Madrid, Spain cDivision of Cardiovascular Medicine and Cardiovascular Institute Stanford University, Stanford University Falk Cardiovascular Research Center, Stanford, California, USA.
    Purpose Of Review: To review how leveraging familial hypercholesterolemia registries can impact molecular genetic research and precision medicine.

    Recent Findings: Familial hypercholesterolemia is both much more common and more phenotypically heterogeneous than previously thought with some evidence for significant genotype to phenotype correlations. Genetic testing for familial hypercholesterolemia is becoming both more widely available and cheaper, spurring conversations about its clinical utility. Read More

    Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.
    Curr Opin Lipidol 2017 Feb 6. Epub 2017 Feb 6.
    aUnidade de I&D, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge bBioISI - Biosystems & Integrative Sciences Institute, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal cDepartment of internal Medicine, Erasmus University Rotterdam, Rotterdam, the Netherlands.
    Purpose Of Review: To present up to date evidence on the pathogenicity of low-density lipoprotein receptor (LDLR) variants and to propose a strategy that is suitable for implementation in the clinical work-up of familial hypercholesterolaemia.

    Recent Findings: More than 1800 variants have been described in the LDLR gene of patients with a clinical diagnosis of familial hypercholesterolaemia; however, less than 15% have functional evidence of pathogenicity.

    Summary: The spectrum of variants in the LDLR identified in patients with clinical familial hypercholesterolaemia is increasing as novel variants are still being reported. Read More

    The polypill approach - An innovative strategy to improve cardiovascular health in Europe.
    BMC Pharmacol Toxicol 2017 Feb 7;18(1):10. Epub 2017 Feb 7.
    Julius Global Health, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, 3508 GA, Utrecht, The Netherlands.
    Background: Cardiovascular disease (CVD) is a major cause of disability and premature death. Despite European guidelines advocating the use of medical therapies in CVD, many patients still do not achieve the guideline-recommended treatment, which highlights the need for change and innovations in this field. This requirement has been widely recognised by the national ministries of health, several European cardiology societies, and the European Parliament, who support the initiation of strategies to improve and promote cardiovascular health. Read More

    Proprotein convertase subtilisin/kexin type 9 enzyme inhibitors: An emerging new therapeutic option for the treatment of dyslipidemia.
    J Pharmacol Pharmacother 2016 Oct-Dec;7(4):190-193
    Department of Basic Medical Sciences, Prince Sultan Military College of Health Sciences, King Fahd Military Medical Complex, Dhahran, Saudi Arabia; Department of Pharmaceutical Biotechnology, Faculty of Pharmacy, Jamia Hamdard, New Delhi, India.
    The treatment of hypercholesterolemia entered in a new phase of development with the introduction of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors in the market. The Food and Drug Administration and European Medicines Agency recently approved the alirocumab and evolocumab, subcutaneously injectable monoclonal antibody every 2 or 4 weeks against PCSK9, for the treatment of hypercholesterolemia in patients with intolerance or inadequate response to statins, especially for the secondary prevention or in the case of familial hypercholesterolemia. This decision is based on several clinical trials demonstrating that inhibitors of PCSK9 lower the low-density lipoprotein cholesterol compared to placebo while studies are underway to assess their role in secondary prevention of major cardiovascular events. Read More

    Consumption of protein-enriched milk has minor effects on inflammation in older adults - a 12-week double-blind randomized controlled trial.
    Mech Ageing Dev 2017 Feb 2. Epub 2017 Feb 2.
    Department of Nutrition, Institute of Basic Medical Sciences, P.O. Box 1046, Blindern, 0317 University of Oslo, Norway; National Advisory Unit on Familial Hypercholesterolemia, Department of Endocrinology, Morbid Obesity and Preventive Medicine, Oslo University Hospital, P.O. Box 4950 Nydalen, 0424 Oslo, Norway. Electronic address:
    Introduction: Aging is associated with increased levels of circulating inflammatory markers and reduced muscle mass and strength.

    Objective: We investigated whether intake of protein-enriched milk for 12 weeks would influence markers of inflammation among adults≥70years of age with reduced physical strength.

    Methods: In a double-blind randomized controlled intervention study, subjects were randomly allocated into two groups, receiving a protein-enriched milk (2×20g protein/d, n=14, mean (±SD) age 76. Read More

    Analysis of Children and Adolescents with Familial Hypercholesterolemia.
    J Pediatr 2017 Feb 1. Epub 2017 Feb 1.
    Department of Internal Medicine and Allied Sciences, Sapienza University of Rome, Rome, Italy. Electronic address:
    Objective: To evaluate the effectiveness of criteria based on child-parent assessment in predicting familial hypercholesterolemia (FH)-causative mutations in unselected children with hypercholesterolemia.

    Study Design: LDLR, APOB, and PCSK9 genes were sequenced in 78 children and adolescents (mean age 8.4 ± 3. Read More

    Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia.
    Eur Heart J 2017 Feb 4. Epub 2017 Feb 4.
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine, 13-1 Takara-machi, Kanazawa 920-8641, Japan.

    Genotype-guided diagnosis in familial hypercholesterolemia: clinical management and concerns.
    Curr Opin Lipidol 2017 Feb 2. Epub 2017 Feb 2.
    aCardiovascular Genetics Research Program, Division of Cardiovascular Medicine, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah bThe FH Foundation, Pasadena, California, USA.
    Purpose Of Review: In this review, we examine benefits and concerns associated with genetic testing in the clinical management of familial hypercholesterolemia (FH).

    Recent Findings: Application of next-generation sequencing and other advances provide improved yield of causal mutations compared with older methods and help disclose underlying pathophysiology in many instances. Concerns regarding clinical application of genetic testing remain. Read More

    Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants.
    Curr Opin Lipidol 2017 Feb 2. Epub 2017 Feb 2.
    aRobarts Research Institute bDepartment of Biochemistry cDepartment of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
    Purpose Of Review: There are many reports of human variants in proprotein convertase subtilisin-kexin type 9 (PCSK9) that are either gain-of-function (GOF) or loss-of-function (LOF), with downstream effects on LDL cholesterol and cardiovascular disease (CVD) risk. However, data on particular mechanisms have only been minimally curated.

    Recent Findings: GOF variants are individually ultrarare, affect all domains of the protein, act to reduce LDL receptor expression through several mechanisms, are a minor cause of familial hypercholesterolemia, have been reported mainly within families, have variable LDL cholesterol-raising effects, and are associated with increased CVD risk mainly through observational studies in families and small cohorts. Read More

    AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF DYSLIPIDEMIA AND PREVENTION OF ATHEROSCLEROSIS.
    Endocr Pract 2017 Feb 3. Epub 2017 Feb 3.
    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: Each Recommendation is based on a diligent review of the clinical evidence with transparent incorporation of subjective factors.

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

    The role of proprotein convertase subtilisin-kexin type 9 inhibitors in the management of dyslipidemia.
    Curr Pharm Des 2017 Feb 1. Epub 2017 Feb 1.
    First Propedeutic Department of Internal Medicine, Medical School, Aristotle University of Thessaloniki, AHEPA Hospital, Thessaloniki,. Greece.
    Background: Treatment with statins substantially reduces cardiovascular morbidity and mortality both in patients with and without established cardiovascular disease. Accordingly, statins represent the cornerstone of lipid-lowering treatment. However, there are still unmet clinical needs in the management of dyslipidemia. Read More

    Efficacy and Safety of Lomitapide in Japanese Patients with Homozygous Familial Hypercholesterolemia.
    J Atheroscler Thromb 2017 Feb 2. Epub 2017 Feb 2.
    National Cerebral and Cardiovascular Research Center.
    Aim: There is an unmet need in Japan for more optimal lipid-lowering therapy (LLT) for patients with homozygous familial hypercholesterolemia (HoFH) who respond inadequately to available drug therapies and/or apheresis, to achieve goals of low-density lipoprotein cholesterol (LDL-C) reduction by 50% or to <100 mg/dL.

    Methods: In this study, Japanese patients with HoFH on stable LLT and diet were treated with lomitapide, initiated at 5 mg/day and escalated to maximum tolerated dose (up to 60 mg/day) over 14 weeks. The primary efficacy endpoint was mean percentage change from baseline to Week 26 in LDL-C. Read More

    Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.
    Eur J Hum Genet 2017 Feb 1. Epub 2017 Feb 1.
    Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA.
    Knowledge of variant pathogenicity is key to implementing genomic medicine. We describe variability between expert reviewers in assigning pathogenicity to sequence variants in LDLR, the causal gene in the majority of cases of familial hypercholesterolemia. LDLR was sequenced on the Illumina HiSeq platform (average read depth >200 × ) in 1013 Mayo Biobank participants recruited from 2012 to 2013. Read More

    Anti-PCSK9 antibodies: A new era in the treatment of dyslipidemia.
    Curr Pharm Des 2017 Jan 30. Epub 2017 Jan 30.
    Polyclinic for Endocrinology, Diabetes and Preventive Medicine (PEDP), University of Cologne, Kerpener Str. 62, 50937 Cologne, Germany.
    The serine protease proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the low-density lipoprotein (LDL) receptor (LDLR) and directs it to lysosomal degradation. This results in decreased numbers of LDLR available on the cell surface to bind LDL particles and remove them from the circulation which in turn leads to an increase in circulating LDL-cholesterol (LDL-C) concentrations. Since the role PCSK9 plays in LDL-C metabolism has been discovered in 2003 there have been major efforts in finding efficient and safe methods to inhibit it. Read More

    Episomal Nonviral Gene Therapy Vectors Slow Progression of Atherosclerosis in a Model of Familial Hypercholesterolemia.
    Mol Ther Nucleic Acids 2016 ;5:e383
    Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK. Electronic address:
    Familial hypercholesterolemia (FH) is a life-threatening genetic disorder characterized by elevated levels of plasma low-density lipoprotein cholesterol (LDL-cholesterol). Current attempts at gene therapy for FH have been limited by the use of strong heterologous promoters which lack genomic DNA elements essential for regulated expression. Here, we have combined a minigene vector expressing the human LDLR cDNA from a 10 kb native human LDLR locus genomic DNA promoter element, with an efficient miRNA targeting 3-hydroxy-3-methylgutaryl-coenzyme A reductase (Hmgcr), to further enhance LDLR expression. Read More

    Long-term outcome in 53 patients with homozygous familial hypercholesterolaemia in a single centre in France.
    Atherosclerosis 2017 Jan 16;257:130-137. Epub 2017 Jan 16.
    Hôpital Pitié-Salpêtrière, Service de Biochimie Endocrinienne et Oncologique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France, Institute of Cardiometabolism and Nutrition, Paris, France Université Pierre et Marie Curie 06, Unité Mixte de Recherche, S 1166 Paris, France.
    Background And Aims: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited condition characterized by elevated plasma low-density lipoprotein-cholesterol (LDL-C) levels, severe, accelerated atherosclerosis and premature coronary heart disease. We evaluated cardiovascular complications in HoFH patients over extended follow-up and investigated their association with changes in cholesterol over time, as well as total cholesterol burden.

    Methods: In this retrospective single-centre study, 53 patients (baseline mean ± standard deviation [SD], total cholesterol 15. Read More

    [Familial hypercholesterolemia in the Czech Republic in 2016].
    Vnitr Lek 2016 ;62(11):924-928
    Familial hypercholesterolemia (FH) is the most frequent autosomal dominant hereditary disease which is characterized by a decreased LDL-cholesterol catabolism and early clinical manifestation of atherosclerosis affecting blood vessels. The MedPed (Make early diagnosis to Prevent early deaths) project aims to diagnose patients with FH as early as possible, so that they can profit the most from a therapy started in a timely manner and avoid premature cardiovascular events. Currently, as of 31 October 2016, the Czech national database keeps records of 6 947 patients with FH from 5 223 families. Read More

    [Severe familial hypercholesterolemia treatment].
    Vnitr Lek 2016 ;62(11):895-901
    Familial hypercholesterolemia (FH) represents the most frequent of inborn errors of metabolism. It is a group of disorders with a codominant mode of inheritance characterized by marked elevations of LDL-cholesterol as well as atherosclerotic cardiovascular disease risk. Clinical (phenotypic) picture of FH varies widely depending on genotype and concomitant risk factors. Read More

    [Hyperlipoproteinemia and dyslipidemia as rare diseases. Diagnostics and treatment].
    Vnitr Lek 2016 ;62(11):887-894
    Hyperlipoproteinemia (HLP) and dyslipidemia (DLP) are of course mainly perceived as diseases of common incidence and are typically seen as the greatest risk factors (RF) in the context of the pandemic of cardiovascular diseases. This is certainly true and HLP or DLP overall affect tens of percents of adults. However we cannot overlook the fact that disorders (mostly congenital) of lipid metabolism exist which, though not formally defined as such, amply satisfy the conditions for classification as rare diseases. Read More

    [Molecular genetics of hypercholesterolemia].
    Vnitr Lek 2016 ;62(11):877-881
    The review focuses on the molecular background of an inborn error of lipid metabolism -familial hypercholesterolemia. FH describes a group of genetic defects resulting in severe elevations of blood cholesterol levels and increased risk of premature coronary heart disease. Most cases are due to the mutations decreasing and/or destroying the function of the LDL receptor (85-90 % of cases), smaller portion of cases is caused by defects in the gene encoding the ligand for LDL receptor - apolipoprotein B-100 (5-10 %). Read More

    Homozygous familial hypercholesterolemia: Summarized case reports.
    Atherosclerosis 2017 Jan 18;257:86-89. Epub 2017 Jan 18.
    Department of Biochemistry, Medical University of Graz, Austria.
    Background And Aims: Homozygous familial hypercholesterolemia (hoFH) is a rare genetic disorder with potential severe atherosclerosis in the pediatric age.

    Methods: We report on 9 patients with hoFH, who had been diagnosed within the last 30 years and who were consequently treated with apheresis and drugs.

    Results: Two deaths occurred: one at age 36 years and the other at age four and a half years before effective treatment was commenced. Read More

    Effects of Silymarin on Diabetes Mellitus Complications: A Review.
    Phytother Res 2017 Jan 25. Epub 2017 Jan 25.
    Department of Pharmacology, Federal University of Paraná, Curitiba, PR, Brazil.
    Diabetes mellitus is a common metabolic disorder that is caused by a deficit in the production of (type 1) or response to (type 2) insulin. Diabetes mellitus is characterized by a state of chronic hyperglycemia and such symptoms as weight loss, thirst, polyuria, and blurred vision. These disturbances represent one of the major causes of morbidity and mortality nowadays, despite available treatments, such as insulin, insulin secretagogues, insulin sensitizers, and oral hypoglycemic agents. Read More

    Estimated Prevalence of Heterozygous Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome.
    Int Heart J 2017 Feb 24;58(1):88-94. Epub 2017 Jan 24.
    Department of Cardiovascular Medicine, Juntendo University Graduate School of Medicine.
    Heterozygous familial hypercholesterolemia (FH) represents a strong risk for development of premature coronary artery disease (CAD). However, the majority of patients with FH are undiagnosed and the prevalence likely represents an underestimate in most countries. In Japan, the possible contribution of FH to the development of CAD may be higher because of the low incidence of CAD among the general population. Read More

    Update on Familial Hypercholesterolemia: Diagnosis, Cardiovascular Risk, and Novel Therapeutics.
    Endocrinol Metab (Seoul) 2017 Jan 19. Epub 2017 Jan 19.
    Division of Cardiology, Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
    In recent studies, the reported prevalence of heterozygous familial hypercholesterolemia (FH) has been higher than in previous reports. Although cascade genetic screening is a good option for efficient identification of affected patients, diagnosis using only clinical criteria is more common in real clinical practice. Cardiovascular risk is much higher in FH patients due to longstanding low density lipoprotein cholesterol (LDL-C) burden and is also influenced by other risk factors. Read More

    Efficacy, safety, Low density lipoprotein cholesterol lowering, and calculated 10-year cardiovascular risk reduction of alirocumab and evolocumab in addition to maximal tolerated cholesterol lowering therapy: a post-commercialization study.
    Lipids Health Dis 2017 Jan 23;16(1):19. Epub 2017 Jan 23.
    Graduate Medical Education Department, Jewish Hospital of Cincinnati, Cincinnati, Ohio, USA.
    Background: Efficacy and safety of proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitors, alirocumab (ALI) and evolocumab (EVO) have previously been evaluated through controlled clinical trials with selective patient groups. Post-commercially, in patients with heterozygous familial hypercholesterolemia (HeFH) and/or cardiovascular disease (CVD) with suboptimal LDL cholesterol (LDLC) lowering on maximal tolerated cholesterol lowering therapy, we assessed efficacy and safety of ALI and EVO.

    Methods: Post-commercially, we started 25 patients on ALI 75 mg, 15 on ALI 150 mg, and 32 on EVO 140 mg bi-weekly added to entry LDLC lowering regimen, with follow-up for a median 24 weeks. Read More

    Molecular genetics of familial hypercholesterolemia in Israel-revisited.
    Atherosclerosis 2016 Dec 18;257:55-63. Epub 2016 Dec 18.
    Center for Research Prevention and Treatment of Atherosclerosis, Department of Medicine, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
    Background And Aims: Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the genes for LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type9 (PCSK9). The purpose of the current investigation was to define the current spectrum of mutations causing FH in Israel.

    Methods: New families were collected through the MEDPED (Make Early Diagnosis Prevent Early Death) FH program. Read More

    Pretreatment Cardiometabolic Status in Youth With Early-Onset Psychosis: Baseline Results From the TEA Trial.
    J Clin Psychiatry 2017 Jan 17. Epub 2017 Jan 17.
    Centre for Child and Adolescent Mental Health, Mental Health Services, Capital Region of Denmark and Faculty of Health and Medical Sciences, Department of Clinical Medicine, University of Copenhagen, Nordre Ringvej 69, DK- 2600 Glostrup, Denmark.
    Objective: To describe pretreatment cardiometabolic constitution in children and adolescents with first-episode psychosis (FEP).

    Methods: Baseline cardiometabolic assessment was performed in youths aged 12-17 years with FEP entering the Tolerability and Efficacy of Antipsychotics (TEA) trial and matched healthy controls. Patients were included between June 10, 2010, and January 29, 2014. Read More

    Multiple large xanthomas: A case report.
    Oncol Lett 2016 Dec 18;12(6):4327-4332. Epub 2016 Oct 18.
    Department of Orthopedics, The Second Clinical Medical College, Wenzhou Medical University, Wenzhou, Zhejiang 325000, P.R. China.
    A 23-year-old male patient presented with multiple large masses in his elbows, buttocks, knees, Achilles tendons, feet, shoulders and hands. The large masses in the elbows and buttocks measured ~6×5×5 cm and ~7×5×4 cm, respectively. The patient presented with an elevated level of low-density lipoprotein cholesterol, and had been previously diagnosed with homozygous familial hypercholesterolemia (FH) and multiple xanthomas. Read More

    Current and emerging treatments for hypercholesterolemia: A focus on statins and proprotein convertase subtilisin/kexin Type 9 inhibitors for perioperative clinicians.
    J Anaesthesiol Clin Pharmacol 2016 Oct-Dec;32(4):440-445
    Department of Anesthesiology, Mayo Clinic, Phoenix, Arizona 85054, USA.
    Statins are a mainstay of hyperlipidemia treatment. These drugs inhibit the enzyme 3-hydroxy-3-methylglutaryl coenzyme A reductase and have beneficial effects on atherosclerosis including plaque stabilization, reduction of platelet activation, and reduction of plaque proliferation and inflammation. Statins also have a benefit beyond atherosclerotic plaque, including anticoagulation, vasodilatation, antioxidant effects, and reduction of mediators of inflammation. Read More

    Hyperlipidemia: Drugs for Cardiovascular Risk Reduction in Adults.
    Am Fam Physician 2017 Jan;95(2):78-87
    Medical College of Wisconsin Fox Valley Family Medicine Residency Program, Appleton, WI, USA.
    Guidelines from the American College of Cardiology/American Heart Association (ACC/AHA) and the U.K. National Institute for Health and Care Excellence (NICE) indicate that lipid-lowering drugs have benefit for primary and secondary prevention of atherosclerotic cardiovascular disease (ASCVD) events. Read More

    [PCSK9 inhibitors : Current clinical relevance].
    Internist (Berl) 2017 Feb;58(2):196-201
    Stoffwechselambulanz, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Ludwig-Maximilians-Universität München, Ziemssenstr. 1, 80336, München, Deutschland.
    Background: Hypercholesterolemias are known risk factors for cardiovascular diseases. Although statins have reduced the cardiovascular morbidity and mortality and further therapeutic measures are available, treatment goals are often not achieved. In cases of very high levels of low-density lipoprotein (LDL) cholesterol or of intolerability, the established therapies are often not sufficiently effective or cannot be used in adequate doses. Read More

    Value of the Definition of Severe Familial Hypercholesterolemia for Stratification of Heterozygous Patients.
    Am J Cardiol 2017 Mar 2;119(5):742-748. Epub 2016 Dec 2.
    Unidad Clínica e Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, IIS Aragón, Universidad de Zaragoza, Zaragoza, Spain.
    Familial hypercholesterolemia (FH) is characterized by high low-density lipoprotein (LDL) cholesterol with co-dominant transmission and high risk of cardiovascular disease (CVD), although with high variability among subjects. Currently, CVD stratification tools for heterozygous FH (HeFH) are not available. A definition of severe HeFH has been recently proposed by the International Atherosclerosis Society (IAS), but it has not been validated. Read More

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