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    7929 results match your criteria Hypercholesterolemia Familial

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    How many familial hypercholesterolemia patients are eligible for PCSK9 inhibition?
    Atherosclerosis 2017 May 12;262:107-112. Epub 2017 May 12.
    Unidad de Lípidos, Hospital Universitario Miguel Servet, IIS Aragón, CIBERCV, Universidad de Zaragoza, Zaragoza, Spain.
    Background And Aims: Familial hypercholesterolemia (FH) is a high cardiovascular risk condition. Less than 20% of patients achieve the LDL targets. Although PCSK9 inhibitors improve control and reduce cardiovascular events, official recommendations for their use are restrictive. Read More

    Mediterranean lifestyle and cardiovascular disease prevention.
    Cardiovasc Diagn Ther 2017 Apr;7(Suppl 1):S39-S47
    Department of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, Athens, Greece.
    Background: Adherence to a Mediterranean dietary pattern is a well-established protective factor against cardiovascular disease (CVD). However, diet quality is only one aspect of the overall healthy lifestyle adopted by Mediterranean populations. The latter has never been evaluated as a multi-factorial composite lifestyle. Read More

    Advances in dyslipidemia management for prevention of atherosclerosis: PCSK9 monoclonal antibody therapy and beyond.
    Cardiovasc Diagn Ther 2017 Apr;7(Suppl 1):S11-S20
    California Heart Associates, Fountain Valley, California, USA.
    In 2003, select families with familial hypercholesterolemia were first identified to have gain-of-function mutations for proprotein convertase subtilisin kexin type 9 (PCSK9) followed, in 2006, by the identification of those with lifelong low levels of LDL-C and lowered atherosclerotic cardiovascular disease (ASCVD) risk who had loss-of-function PCSK9 mutations. These discoveries led to the rapid development of PSCK9-targeted monoclonal antibody (PCSK9 mAb) therapies and, in 2015, 2 'fully-humanized' PCSK9 mAbs (alirocumab and evolocumab) were marketed in the United States, Europe, and other countries. In a wide range of high risk patients, with and without ASCVD, these PCSK9 mAbs, as once or twice monthly subcutaneous injections, potently reduce LDL-C 50-65% beyond levels achieved by maximally tolerated statin therapy; approximately one-third of patients achieve LDL-C levels <25 mg/dL. Read More

    Dyslipidemia management update.
    Curr Opin Pharmacol 2017 May 17;33:47-55. Epub 2017 May 17.
    East Carolina University, Brody School of Medicine, Department of Pharmcology and Toxicology, Greenville, NC 27834, USA.
    Association of hypercholesterolemia and atherosclerotic cardiovascular disease (ASCVD) is well established. Reducing low-density lipoprotein-cholesterol (LDL-C) and raising high-density lipoprotein-cholesterol (HDL-C) have been the therapeutic targets to reduce the risk of ASCVD. Cholesterol-lowering medications have been used to provide both primary and secondary prevention of ASCVD for many years by reducing the absorption and reabsorption, promoting excretion, or decreasing the synthesis of cholesterol. Read More

    Recent advances in genetic testing for familial hypercholesterolemia.
    Expert Rev Mol Diagn 2017 May 19. Epub 2017 May 19.
    a Departments of Medicine and Biochemistry, Schulich School of Medicine and Dentistry , Western University , London , Ontario , Canada N6A 5B7.
    Introduction: Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary heart disease that is widely underdiagnosed and undertreated. To improve the identification of FH and initiate timely and appropriate treatment strategies, genetic testing is becoming increasingly offered worldwide as a central part of diagnosis. Areas covered: Recent advances have been propelled by an improved understanding of the genetic determinants of FH together with substantially reduced costs of appropriate screening strategies. Read More

    2017 Position Paper of the Italian Society for Cardiovascular Prevention (SIPREC) for an Updated Clinical Management of Hypercholesterolemia and Cardiovascular Risk: Executive Document.
    High Blood Press Cardiovasc Prev 2017 May 18. Epub 2017 May 18.
    Division of Cardiology, Department of Advanced Biomedical Sciences, Hypertension Research Centre, University of Napoli "Federico II", Naples, Italy.
    The benefits achieved by implementing cardiovascular prevention strategies in terms of reduced incidence of atherosclerotic diseases and mortality are accepted, worldwide. In particular, the clinical management of hypercholesterolemia has a fundamental role for all preventive strategies, both in primary and secondary prevention, at each stage of cardiovascular risk. Since the net clinical benefit of lipid-lowering therapy largely depends on baseline individual cardiovascular risk profile, the assessment of individual risk is essential to establish type and intensity of both preventive and therapeutic strategies. Read More

    Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
    Atherosclerosis 2017 May 4;262:71-77. Epub 2017 May 4.
    Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:
    Background And Aims: Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive hypercholesterolemia (ARH) or sitosterolemia, depending on the transmission of hypercholesterolemia in the patient's family. Sitosterolemia is a recessive disorder characterized by high plasma levels of cholesterol and plant sterols due to mutations in the ABCG5 or the ABCG8 gene, leading to a loss of function of the ATP-binding cassette (ABC) heterodimer transporter G5-G8.

    Methods: We aimed to perform the molecular characterization of two children with severe primary hypercholesterolemia. Read More

    Case 242: Radiation-induced Angiosarcoma.
    Radiology 2017 Jun;283(3):909-916
    From the Department of Diagnostic Radiology, Michigan State University/Beaumont Hospital-Dearborn, 18101 Oakwood Blvd, Dearborn, MI 48183 (M.D.); Knoxville Comprehensive Breast Center, Knoxville, Tenn (K.F.K.); and Drs. Harris, Birkhill, Wang, Songe and Associates, Beaumont Breast Care Center-Wayne, Wayne, Mich (J.M.K.).
    History In 2004, this woman received a diagnosis of invasive mammillary carcinoma, tubular variant, strongly positive for estrogen and progesterone receptors. Her lesion was found at screening mammography performed at an outside institution when she was 59 years old. She underwent partial mastectomy, with partial axillary node dissection and sentinel node mapping. Read More

    Balancing Low-density Lipoprotein Cholesterol Reduction and Hepatotoxicity With Lomitapide Mesylate and Mipomersen in Patients With Homozygous Familial Hypercholesterolemia.
    Rev Cardiovasc Med 2017 ;18(1):21-28
    Baylor University Medical Center, Baylor Jack and Jane Hamilton Heart and Vascular Hospital, Baylor Heart and Vascular Institute, Dallas, TX; The Heart Hospital, Plano, TX.
    Homozygous familial hypercholesterolemia (HoFH) is an autosomal codominant disorder manifested by high concentrations of total cholesterol and low-density lipoprotein (LDL) cholesterol, and premature cardiovascular disease. Despite conventional lipid-lowering therapy, LDL cholesterol levels remain elevated in patients with HoFH; these patients are considered to be at high risk for cardiovascular events. In 2012-2013, two drugs with novel mechanisms of action were approved by the US Food and Drug Administration for the treatment of HoFH: lomitapide mesylate and mipomersen. Read More

    HDL abnormalities in familial hypercholesterolemia: Focus on biological functions.
    Prog Lipid Res 2017 May 12;67:16-26. Epub 2017 May 12.
    Biotechnology Research Center, Mashhad University of Medical Sciences, Mashhad 9177948564, Iran. Electronic address:
    Although a selective strong elevation in the plasma level of low-density lipoprotein (LDL) cholesterol is the hallmark of familial hypercholesterolemia (FH), also other plasma lipoprotein and lipid subspecies are changed in these patients. Several studies in FH patients have pointed to the qualitative abnormalities of high-density lipoprotein (HDL) particles, including their triglyceride and sphingomyelin enrichment, reduced capacity to promote cholesterol efflux from macrophages, impaired anti-inflammatory and anti-oxidant activities, and reduced plasma levels of miRs regulating HDL-dependent cholesterol efflux from macrophage foam cells, typical of atherosclerotic lesions. Thus, accurate understanding of HDL functionality and its disturbances in FH may serve a better estimation of the prognosis and also provide additional clues when searching for novel therapeutic choices in this disease. Read More

    Proprotein convertase subtilisin/kexin 9 inhibition in patients with familial hypercholesterolemia: Initial clinical experience.
    J Clin Lipidol 2017 May - Jun;11(3):674-681. Epub 2017 Mar 7.
    Pharmacology, Vascular and Metabolic Diseases Section, Department of Internal Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands.
    Background: Despite optimal lipid-lowering therapy, a minority of patients with familial hypercholesterolemia (FH) reach low-density lipoprotein cholesterol (LDL-c) target goals. In randomized trials, proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors led to impressive LDL-c reductions and a favorable safety profile. However, data about the efficacy and safety outside clinical trials are not available yet. Read More

    Managing the challenging homozygous familial hypercholesterolemia patient: Academic insights and practical approaches for a severe dyslipidemia, a National Lipid Association Masters Summit.
    J Clin Lipidol 2017 May - Jun;11(3):602-616. Epub 2017 Apr 5.
    Department of Clinical Pharmacology, Atherosclerosis/Lipoprotein-Apheresis Center, University of Kansas Medical Center, Kansas City, KS, USA.
    The following article represents material presented and discussed at a symposium hosted by the National Lipid Association hosted entitled "Managing the Challenging Homozygous Familial Hypercholesterolemia Patient-Academic Insights and Practical Approaches for a Severe Dyslipidemia" on November 7, 2015 in Orlando, FL. Presenters included G.K. Read More

    Detecting familial hypercholesterolemia: The Jack and the Beanstalk principle.
    J Clin Lipidol 2017 Mar - Apr;11(2):575-578. Epub 2017 Feb 22.
    School of Medicine, University of Western Australia, Perth, Western Australia, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Royal Perth Hospital, Perth, Western Australia, Australia.
    We report the case of an 8-year-old girl who was fortuitously diagnosed with familial hypercholesterolemia (FH) while being investigated for obesity. She had a fasting total cholesterol of 11.8 mmol/L and a low-density lipoprotein cholesterol level of 10. Read More

    Functional analysis of new 3' untranslated regions genetic variants in genes associated with genetic hypercholesterolemias.
    J Clin Lipidol 2017 Mar - Apr;11(2):532-542. Epub 2017 Feb 28.
    Departamento de Biología Molecular, Facultad de Medicina, Universidad de Cantabria, and Instituto de Investigacion Valdecilla (IDIVAL), Santander, Cantabria, Spain. Electronic address:
    Background: Familial hypercholesterolemia (FH) is the best-described autosomal dominant genetic hypercholesterolemia (GH). Mutations in candidate genes can explain a high proportion of FH cases, but for many, no causative mutations are detected (designed non-FG-GH), suggesting the existence of additional genetic variants associated with the disease.

    Objective: We aimed to identify new single-nucleotide variants (SNVs) located at the 3' untranslated regions (3'UTRs) of the low-density lipoprotein receptor, low-density lipoprotein receptor-related protein-associated protein 1, ATP-binding cassette sub-family G member 5, and sterol regulatory element-binding protein 2 genes in non-FH-GH individuals and investigated whether the association of these SNVs with non-FH-GH could be explained by changes in the affinity of regulatory microRNAs (miRNA) targeting the sequences modified by the SNVs. Read More

    Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.
    J Clin Lipidol 2017 Mar - Apr;11(2):524-531. Epub 2017 Feb 28.
    Laboratorio de Lípidos y Aterosclerosis, Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Universidad de Buenos Aires, Buenos Aires, Argentina; Universidad de Buenos Aires, Instituto de Fisiopatologia y Bioquímica Clinica, INFIBIOC, Buenos Aires, Argentina.
    Background: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol and early cardiovascular disease. As cardiovascular disease is a leading cause of mortality in Argentina, early identification of patients with FH is of great public health importance.

    Objective: The aim of our study was to identify families with FH and to approximate to the characterization of the genetic spectrum mutations of FH in Argentina. Read More

    Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia.
    J Clin Lipidol 2017 Mar - Apr;11(2):507-514. Epub 2017 Feb 27.
    Department of Internal Medicine, Erasmus Medical Centre, Erasmus University of Rotterdam, Rotterdam, The Netherlands.
    Background: Patients with autosomal dominant hypercholesterolemia (ADH), caused by mutations in either low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin-kexin type 9 (PCSK9) are characterized by high low-density lipoprotein cholesterol levels and in some studies also high lipoprotein(a) (Lp(a)) levels were observed. The question remains whether this effect on Lp(a) levels is gene-dose-dependent in individuals with either 0, 1, or 2 LDLR or APOB mutations.

    Objective: We set out to study whether Lp(a) levels differ among bi-allelic ADH mutation carriers, and their relatives, in the Netherlands. Read More

    Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?
    J Clin Lipidol 2017 Mar - Apr;11(2):477-484.e2. Epub 2016 Nov 17.
    Unidade I&D, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, Portugal; University of Lisboa, Faculty of Sciences, BioISI-Biosystems & Integrative Sciences Institute, Campo Grande, Lisboa, Portugal. Electronic address:
    Background: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD.

    Objective: The aim of this study was to investigate LALD in individuals with severe dyslipidemia and/or liver steatosis. Read More

    Mature proprotein convertase subtilisin/kexin type 9, coronary atheroma burden, and vessel remodeling in heterozygous familial hypercholesterolemia.
    J Clin Lipidol 2017 Mar - Apr;11(2):413-421.e3. Epub 2017 Jan 18.
    Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Centre, Suita, Japan.
    Background: Proprotein convertase subtilisin/kexin type 9 (PCSK9), an important contributor to low-density lipoprotein metabolism in heterozygous familial hypercholesterolemia (HeFH), exhibits direct proatherogenic effects. PCSK9 circulates as mature and furin-cleaved forms, which differ in its biological activity. However, it remains to be elucidated whether each PCSK9 subtype has different atherogenic properties. Read More

    The 9p21.3 locus and cardiovascular risk in familial hypercholesterolemia.
    J Clin Lipidol 2017 Mar - Apr;11(2):406-412. Epub 2017 Feb 2.
    Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Québec, Canada; Division of Experimental Medicine, Department of Medicine, McGill University, Québec, Canada; Division of Medical Biochemistry, Department of Medicine, McGill University, Québec, Canada. Electronic address:
    Background: Carrying a risk variant in the 9p21.3 locus represents one of the strongest genetic risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population. However, the effect of these polymorphisms in patients with familial hypercholesterolemia (FH) has never been studied. Read More

    Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry.
    J Clin Lipidol 2017 Mar - Apr;11(2):386-393.e6. Epub 2017 Jan 10.
    Department of Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan, Republic of China; Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan. Electronic address:
    Background: Familial hypercholesterolemia (FH) is a heterogeneous autosomal dominant disease. The genetic heterogeneity of FH requires low-cost, high-throughput, and rapid mutation detection technology to efficiently integrate genetic screening into clinical practice.

    Objectives: The aims of the study were to customize the MassARRAY assay to (1) establish an FH mutation assay panel, comprising known point mutations located on FH-causing genes and (2) test the feasibility of the assay for screening FH patients residing in Taiwan who fit the clinical criteria of FH diagnosis. Read More

    [2016 European Society of Cardiology guidelines for the management of dyslipidemias].
    Presse Med 2017 May 10. Epub 2017 May 10.
    CHU Rangueil, TSA 50032, fédération de cardiologie, 31059 Toulouse cedex 9, France. Electronic address:
    Cardiovascular risk evaluation is a fundamental approach in cardiovascular prevention. Cardiovascular risk categories are associated with lipid-lowering drug intensity. LDL cholesterol is the main target of treatment. Read More

    Hypercholesterolemia Causes Circadian Dysfunction: A Potential Risk Factor for Cardiovascular Disease.
    EBioMedicine 2017 Apr 27. Epub 2017 Apr 27.
    Department of Cardiovascular Medicine, Saga University, 5-1-1 Nabeshima, Saga 849-8501, Japan.
    Hypercholesterolemia is a well-known risk factor for a wide range of diseases in developed countries. Here, we report that mice lacking functional LDLR (low density lipoprotein receptor), an animal model of human familial hypercholesterolemia, show circadian abnormalities. In free running behavioral experiments in constant darkness, these mice showed a prolonged active phase and distinctly bimodal rhythms. Read More

    Achilles tendon xanthomas are associated with the presence and burden of subclinical coronary atherosclerosis in heterozygous familial hypercholesterolemia: A pilot study.
    Atherosclerosis 2017 Apr 30. Epub 2017 Apr 30.
    Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School Hospital, Sao Paulo, SP, Brazil; Preventive Medicine Center and Cardiology Program, Hospital Israelita Albert Einstein, Sao Paulo, Brazil. Electronic address:
    Background And Aims: Achilles tendon xanthomas (ATX) are a sign of long-term exposure to high blood cholesterol in familial hypercholesterolemia (FH) patients, which have been associated with cardiovascular disease. We evaluated the ATX association with the presence and extent of subclinical coronary atherosclerosis in heterozygous FH patients.

    Methods: 102 FH patients diagnosed by US-MEDPED criteria (67% with genetically proven FH), with median LDL-C 279 mg/dL (interquartile range: 240; 313), asymptomatic for cardiovascular disease, underwent computed tomography angiography and coronary artery calcium (CAC) quantification. Read More

    New data on familial hypercholesterolaemia and acute coronary syndromes: The promise of PCSK9 monoclonal antibodies in the light of recent clinical trials.
    Eur J Prev Cardiol 2017 Jan 1:2047487317708890. Epub 2017 Jan 1.
    1 School of Medicine, University of Western Australia, Australia.
    Background Familial hypercholesterolaemia (FH) is an autosomal dominant disorder characterised by substantially elevated low-density lipoprotein (LDL) cholesterol. Although affecting approximately one in 250 individuals worldwide, FH is currently underreported and a greater awareness of this condition is required. Opportunistic screening for FH in acute coronary syndrome patients offers utility for identifying previously undiagnosed individuals and for initiating treatment. Read More

    Cardiovascular risk factors determined via the Internet in 2 periods of time: 2004-2009 and 2010-2015 in Poland.
    Int J Occup Med Environ Health 2017 May 23;30(3):499-510. Epub 2017 Mar 23.
    Świętokrzyskie Cardiology Centre, Kielce, Poland (Department of Cardiology and Electrotherapy).
    Objectives: Web information systems may serve as a diagnostic tool for the Internet users and they also support the epidemiological work of doctors and health care providers. As part of this study, a system has been created for detecting and calculating cardiovascular risk. The aim of this study has been the comparison of cardiovascular risk factors and calculated fatal cardiovascular risk in 2 periods of time: 2004-2009 and 2010-2015 in Poland, as determined via the Internet. Read More

    Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.
    Atherosclerosis 2017 Apr 6;262:8-13. Epub 2017 Apr 6.
    Fundación Hipercolesterolemia Familiar, Madrid, Spain.
    Background And Aims: Familial hypercholesterolemia (FH) is an autosomal dominant disease of cholesterol metabolism that confers an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Therefore, early identification and treatment of these patients can improve prognosis and reduce the burden of cardiovascular mortality. The aim of this work was to perform the mutational analysis of the SAFEHEART (Spanish Familial Hypercholesterolaemia Cohort Study) registry. Read More

    Systematic Cell-Based Phenotyping of Missense Alleles.
    Methods Mol Biol 2017 ;1601:215-228
    Institute of Human Genetics, University of Heidelberg, Heidelberg, 69120, Germany.
    Sequencing of the protein-coding genome, the exome, has proven powerful to unravel links between genetic variation and disease for both Mendelian and complex conditions. Importantly, however, the increasing number of sequenced human exomes and mapping of disease-associated alleles is accompanied by a simultaneous, yet exponential increase in the overall number of rare and low frequency alleles identified. For most of these novel alleles, biological consequences remain unknown since reliable experimental approaches to better characterize their impact on protein function are only slowly emerging. Read More

    Microvascular Function and Endothelial Progenitor Cells in Patients with Severe Hypercholesterolemia and the Familial Hypercholesterolemia Phenotype.
    Cardiology 2017 May 4;137(4):231-236. Epub 2017 May 4.
    Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
    Objective: To evaluate endothelial progenitor cells (EPCs) and systemic microvascular function in patients with severe hypercholesterolemia, comparing patients with the definite familial hypercholesterolemia (FH) phenotype (DFH) or probable/possible FH phenotype (PFH). There is a large spectrum of atherosclerotic disease between these two clinical phenotypes of FH, and to acquire further knowledge of the pathophysiology of vascular disease in both is desirable.

    Methods: Subjects with severe hypercholesterolemia, defined as low-density lipoprotein cholesterol (LDL-C) >190 mg/dL, were classified as DFH or PFH and underwent measurement of the number of EPCs by flow cytometry and evaluation of cutaneous microvascular reactivity using a laser speckle contrast-imaging system with iontophoresis of acethylcholine (ACh) or sodium nitroprusside. Read More

    Molecular diagnosis of familial hypercholesterolaemia.
    Curr Opin Lipidol 2017 Apr 29. Epub 2017 Apr 29.
    aMolecular Diagnostics, Randox Laboratories Ltd., Crumlin bRegional Genetics Centre, Belfast City Hospital, Belfast Health and Social Care Trust, Belfast, UK.
    Purpose Of Review: Familial hypercholesterolaemia is a hereditary disorder of lipoprotein metabolism which causes a lifelong increase in LDL-C levels resulting in premature coronary heart disease. The present review looks at some of the recent literature on how molecular methods can be used to assist in the definitive diagnosis of familial hypercholesterolaemia in a range of patient groups.

    Recent Findings: Several recent studies have shown that the prevalence of clinical familial hypercholesterolaemia is higher than previously thought at 1/200 to 1/300, and that 2-5% of patients presenting with early myocardial infarction can be found to have a familial hypercholesterolaemia mutation. Read More

    Premature coronary artery disease in India: coronary artery disease in the young (CADY) registry.
    Indian Heart J 2017 Mar - Apr;69(2):211-216. Epub 2016 Nov 30.
    Sir Gangaram Hospital, New Delhi, India.
    Background: Coronary artery disease (CAD) occurs at younger age in India but only a limited number of studies have evaluated risk factors and management status. This is a multisite observational registry to assess risk factors and treatment patterns in young patients presenting with acute coronary syndrome (ACS) and stable ischemic heart disease (IHD).

    Methods: We recruited 997 young patients (men <55, women <65y) presenting with ACS or stable IHD successively at 22 centers across India. Read More

    Does Evolocumab, as a PCSK9 Inhibitor, Ameliorate the Lipid Profile in Familial Hypercholesterolemia Patients? A Meta-Analysis of Randomized Controlled Trials.
    J Pharm Pharm Sci 2017 ;20:81-96
    Toxicology and Diseases Group, Pharmaceutical Sciences Research Center, Tehran University of Medical Sciences, Tehran, Iran.
    Proprotein convertase subtilisin-kexin type 9 (PCSK9) is a member of regulatory serine proteases which is mostly expressed in liver. In the physiological condition, LDL-C binds to LDL receptors (LDLRs) and via endocytosis, LDLRs are degraded. PCSK9 binds to the epidermal growth factor-like repeat A (EGFA) domain of extracellular LDLRs, and then physiological recycling of LDLRs from surface of liver is cancelled, resulting in elevation of circulating LDL-C in plasma. Read More

    Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia.
    Cholesterol 2017 28;2017:9375818. Epub 2017 Mar 28.
    Department of Molecular Genetics, Institute of Experimental Medicine, 12 Pavlov Street, St. Petersburg 197376, Russia.
    Familial hypercholesterolaemia (FH) is a rare disease that tends to be diagnosed lately. In Russia, the genetic and phenotypic characteristics of the disease are not well defined. We investigated 102 patients with definite FH. Read More

    Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia.
    J Clin Lipidol 2017 May - Jun;11(3):725-732.e5. Epub 2017 Apr 6.
    Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Québec, Canada; Division of Experimental Medicine, Department of Medicine, McGill University, Québec, Canada; Division of Medical Biochemistry, Department of Medicine, McGill University, Québec, Canada. Electronic address:
    Background: Although familial hypercholesterolemia (FH) is a severe monogenic disease, it has been shown that clinical risk factors and common genetic variants can modify cardiovascular disease (CVD) risk.

    Objective: The aim of the study was to evaluate the polygenic contribution to lipid traits and CVD in FH using genetic risk scores (GRSs).

    Methods: Among the 20,434 subjects attending the lipid clinic, we identified and included 725 individuals who carried an FH causing mutation in this retrospective cohort study. Read More

    Early coronary calcifications are related to cholesterol burden in heterozygous familial hypercholesterolemia.
    J Clin Lipidol 2017 May - Jun;11(3):704-711.e2. Epub 2017 Apr 4.
    Unité de Prévention Cardiovasculaire, Service d'Endocrinologie-Métabolisme, Assistance Publique/Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière - Université Pierre et Marie Curie, Paris, France; Sorbonne Universités, UPMC Université Paris 06, INSERM 1146, CNRS 7371, Laboratoire d'imagerie Biomédicale, Paris, France; Imaging Core Lab, Institute of Cardiometabolism and Nutrition, ICAN, Paris, France.
    Background: The identification of high-risk patients with heterozygous familial hypercholesterolemia (HeFH) that may benefit from early treatment is challenging. Coronary Artery Calcification (CAC) score accounts for coronary atherosclerotic burden. It has proven its accuracy in cardiovascular risk assessment in the general population but data in HeFH are lacking. Read More

    PCSK9 as a therapeutic target for cardiovascular disease.
    Exp Ther Med 2017 Mar 17;13(3):810-814. Epub 2017 Jan 17.
    Department of Cardiology, Xuzhou Central Hospital, The Affiliated Xuzhou Hospital of Medical College of Southeast University, Xuzhou, Jiangsu 221009, P.R. China.
    It is well recognized that the elevated plasma level of low-density lipoprotein-cholesterol (LDL-C) is a major risk factor for atherosclerosis and cardiovascular disease (CVD). Deposition of pro-atherogenic LDL-C, on the intima of arterial wall, contributes to plaque formation and atherosclerosis, which further leads to lowered blood flow to vital organs and increased risk of CVD. The most commonly used statin therapy is effective in reducing dyslipidemia and preventing cardiovascular events only in about half of the patient population. 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

    Aortic Vascular Calcification: Cholesterol Lowering Does Not Reduce Progression in Patients With Familial Hypercholesterolemia-or Does It?
    Can J Cardiol 2017 May 9;33(5):594-596. Epub 2017 Mar 9.
    Department of Medicine, Montreal Heart Institute and Université de Montréal, Montréal, Canada; Department of Pharmacology and Therapeutics, McGill University, Montreal, Canada; Institute of Pharmacology, West German Heart and Vascular Center, Faculty of Medicine, University Duisburg-Essen, Essen, Germany.

    Access to Non-Statin Lipid Lowering Therapies in Patients at High-Risk of Atherosclerotic Cardiovascular Disease.
    Circulation 2017 Apr 26. Epub 2017 Apr 26.
    Atomo, Inc., Austin, TX.
    High-intensity statins are recommended for all patients with familial hypercholesterolemia (FH) and non-statin lipid lowering therapies (LLTs) are indicated when there is an inadequate response to statins(1, 2) In the pre-PCSK9 inhibitor (PCSK9i) era only about 40% of FH patients achieved an LDL-C level <100.(3) Partly based on the need for additional therapeutic options in high-risk FH patients, PCSK9 inhibitors were approved for treatment of heterozygous and homozygous FH in 2015. Nevertheless, emerging anecdotal data suggest that access to non-statin LLTs has been a challenge for FH patients though this has not been systematically evaluated. Read More

    Novel lipid modifying drugs to lower LDL cholesterol.
    Curr Opin Lipidol 2017 Apr 25. Epub 2017 Apr 25.
    Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
    Purpose Of Review: Statins have long been the cornerstone for the prevention of cardiovascular disease (CVD). However, because of perceived adverse effects and insufficient efficacy in certain groups of patients, considerable interest exists in the search for alternatives to lower LDL-cholesterol (LDL-C), and the recent approvals of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors underlines the success of this quest. Here, we give an updated overview on the most recent developments in the area of LDL-C lowering agents. Read More

    Modelling the cost-effectiveness PCSK9 inhibitors vs. ezetimibe through LDL-C reductions in a Norwegian setting.
    Eur Heart J Cardiovasc Pharmacother 2017 Apr 21. Epub 2017 Apr 21.
    University of Oslo, The Faculty of Medicine, Department of Health Management and Health Economics, Max Korman, Master Candidate, University of Oslo, Torbjørn Wisløff, Senior Researcher, Norwegian Institute of Public Health.
    Aims: Despite the success of statins, there remains unmet clinical need in cardiovascular disease (CVD) prevention. New proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors reduce low-density lipoprotein cholesterol (LDL-C) by 55-65%. Two PCSK9 inhibitors, evolocumab and alirocumab, were approved for use in Norway but not yet for reimbursement through public national insurance. Read More

    Large Subcutaneous Multi-xanthoma in Familial Hypercholesterolemia.
    Hellenic J Cardiol 2017 Apr 22. Epub 2017 Apr 22.
    Department of Cardiology, Chinese PLA General Hospital, Beijing, China. Electronic address:
    Familial hypercholesterolemia commonly manifests with early onset of atherosclerosis, remarkable skin and tendon xanthomas. Cutaneous xanthomas mostly appear in epidermis. The xanthomas of this case appeared in subcutaneous of ear and sacral region with large bulk. Read More

    Enhanced status of inflammation and endothelial activation in subjects with familial hypercholesterolaemia and their related unaffected family members: a case control study.
    Lipids Health Dis 2017 Apr 24;16(1):81. Epub 2017 Apr 24.
    Faculty of Medicine, Universiti Teknologi MARA (UiTM), Jalan Hospital, Sungai Buloh, Selangor, Malaysia.
    Background: Familial hypercholesterolaemia (FH) leads to premature coronary artery diseases (CAD) which pathophysiologically can be measured by inflammation, endothelial activation and oxidative stress status. However, the status of these biomarkers among related unaffected relatives of FH cases and whether FH is an independent predictor of these biomarkers have not been well established. Thus, this study aims to (1) compare the biomarkers of inflammation, endothelial activation and oxidative stress between patients with FH, their related unaffected relatives (RUC) and normolipaemic subjects (NC) (2)determine whether FH is an independent predictor of these biomarkers. Read More

    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 May - Jun;11(3):682-693. 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

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