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    8161 results match your criteria Hypercholesterolemia Familial

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    Bioactive Components in Moringa Oleifera Leaves Protect against Chronic Disease.
    Antioxidants (Basel) 2017 Nov 16;6(4). Epub 2017 Nov 16.
    Department of Nutritional Sciences, University of Connecticut, Storrs, CT 06269, USA.
    Moringa Oleifera (MO), a plant from the family Moringacea is a major crop in Asia and Africa. MO has been studied for its health properties, attributed to the numerous bioactive components, including vitamins, phenolic acids, flavonoids, isothiocyanates, tannins and saponins, which are present in significant amounts in various components of the plant. Moringa Oleifera leaves are the most widely studied and they have shown to be beneficial in several chronic conditions, including hypercholesterolemia, high blood pressure, diabetes, insulin resistance, non-alcoholic liver disease, cancer and overall inflammation. Read More

    Biological Effect of Cynara cardunculus on Kidney Status of Hypercholesterolemic Rats.
    Pharmacogn Mag 2017 Oct 11;13(Suppl 3):S430-S436. Epub 2017 Oct 11.
    Department of Anatomy, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia.
    Context: Cynara cardunculus or artichoke thistle belongs to the sunflower family and has a variety of cultivable forms. Historically, it was cultivated as a vegetable, but more recently, it is being used in cheese and biofuel preparation. Artichoke leaf extracts are also known for its medicinal purposes, particularly in reducing the elevated cholesterol levels in blood. Read More

    Letter by Natale et al Regarding Article, "Predicting Cardiovascular Events in Familial Hypercholesterolemia: The SAFEHEART Registry (Spanish Familial Hypercholesterolemia Cohort Study)".
    Circulation 2017 Nov;136(20):1982-1983
    Division of Cardiology, Cardio-thoracic and Respiratory Sciences Department, University of Campania "Luigi Vanvitelli," AO Dei Colli-Monaldi Hospital, Naples, Italy.

    CRISPR Correction of a Homozygous Low-Density Lipoprotein Receptor Mutation in Familial Hypercholesterolemia Induced Pluripotent Stem Cells.
    Hepatol Commun 2017 Nov 16;1(9):886-898. Epub 2017 Oct 16.
    Cardiovascular Innovation Institute, University of Louisville School of Medicine, Louisville, KY.
    Familial hypercholesterolemia (FH) is a hereditary disease primarily due to mutations in the low-density lipoprotein receptor (LDLR) that lead to elevated cholesterol and premature development of cardiovascular disease. Homozygous FH patients (HoFH) with two dysfunctional LDLR alleles are not as successfully treated with standard hypercholesterol therapies, and more aggressive therapeutic approaches to control cholesterol levels must be considered. Liver transplant can resolve HoFH, and hepatocyte transplantation has shown promising results in animals and humans. Read More

    Association between lipoprotein (a) and proprotein convertase substilisin/kexin type 9 in patients with heterozygous familial hypercholesterolemia: a case control study.
    Metabolism 2017 Nov 9. Epub 2017 Nov 9.
    Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100037, China. Electronic address:
    Background: Recent data have suggested an important role of lipoprotein (a) [Lp(a)] and proprotein convertase substilisin/kexin type 9 (PCSK9) in the development of atherosclerotic cardiovascular disease (ASCVD) in both general population and family hypercholesterolemia (FH), while the relation of Lp(a) to PCSK9 has not been examined.

    Objective: The aim of the present study was to investigate the association between plasma PCSK9 and Lp(a)in patients with heterozygous FH (HeFH).

    Methods: Two hundred and fifty-five molecularly confirmed patients with HeFH were compared to 255 age- and gender-matched non-FH controls. Read More

    Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.
    Sci Rep 2017 Nov 10;7(1):15282. Epub 2017 Nov 10.
    Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Napoli and CEINGE S.C.a r.l. Biotecnologie Avanzate, Napoli, Italy.
    Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by pathogenic variants in genes encoding for LDL receptor (LDLR), Apolipoprotein B and Proprotein convertase subtilisin/kexin type 9 (PCSK9). Among PCSK9 variants, only Gain-of- Function (GOF) variants lead to FH. Greater attention should be paid to the classification of variants as pathogenic. Read More

    MicroRNA-30c Reduces Plasma Cholesterol in Homozygous Familial Hypercholesterolemic and Type 2 Diabetic Mouse Models.
    J Lipid Res 2017 Nov 9. Epub 2017 Nov 9.
    NYU Winthrop, United States
    High plasma cholesterol levels are found in several metabolic disorders and their reductions are advocated to reduce risk of atherosclerosis. A way to lower plasma lipids is to curtail lipoprotein production; however, this is associated with steatosis. We previously showed that microRNA-30c (miR-30c) lowers diet-induced hypercholesterolemia and atherosclerosis in C57BL/6J and Apoe-/- mice. Read More

    Eligibility for PCSK9 Inhibitors According to American College of Cardiology (ACC) and European Society of Cardiology/European Atherosclerosis Society (ESC/EAS) Guidelines After Acute Coronary Syndromes.
    J Am Heart Assoc 2017 Nov 9;6(11). Epub 2017 Nov 9.
    Department of Cardiology, University Hospital Bern, Switzerland.
    Background: The American College of Cardiology (ACC) and European Society of Cardiology/European Atherosclerosis Society (ESC/EAS) have recently published recommendations for the use of proprotein convertase subtilisin/kexin-9 (PCSK9) inhibitors in situations of very high risk. We aim to assess in the real world the suitability of PCSK9 inhibitors for acute coronary syndromes.

    Methods And Results: We analyzed a prospective Swiss cohort of 2023 patients hospitalized for acute coronary syndromes between 2009 and 2014 with available data for low-density lipoprotein cholesterol and lipid-lowering therapy at 1 year. Read More

    Prevalence of overweight and obesity in United Arab Emirates Expatriates: the UAE National Diabetes and Lifestyle Study.
    Diabetol Metab Syndr 2017 2;9:88. Epub 2017 Nov 2.
    School of Health and Social Development, Deakin University, Geelong, VIC Australia.
    Objective: To describe current prevalence of obesity and related non-communicable diseases (NCDs) in expatriates living in the United Arab Emirates (UAE).

    Methods: We used data from the cross-sectional UAE National Diabetes and Lifestyle Study (UAEDIAB), which surveyed adult expatriates living in the UAE for at least 4 years. We report crude prevalence of overweight and obesity, indicated by gender and ethnicity-specific body mass index (BMI), waist circumference (WC) and waist-to-hip ratio (WHR) cut-offs, by lifestyle and biomedical characteristics, as well as age and sex-adjusted odds ratios. Read More

    Circulating progenitor cells in patients with familial hypercholesterolemia.
    J Clin Apher 2017 Nov 8. Epub 2017 Nov 8.
    Emory University School of Medicine, 1365 Clifton Road NE, Atlanta, Georgia 30322.
    Objective: Familial hypercholesterolemia (FH) is a genetic disease with very high levels of circulating low density lipoprotein cholesterol (LDL-C) levels that leads to accelerated atherosclerosis. Lipoprotein apheresis is an effective treatment option for patients with FH and results in reduced cardiovascular morbidity and mortality. Circulating progenitor cells (CPCs) are markers of overall vascular health and diminished levels have been associated with decreased reparative potential and worse outcomes. Read More

    Survival in homozygous familial hypercholesterolaemia is determined by the on-treatment level of serum cholesterol.
    Eur Heart J 2017 Jul 1. Epub 2017 Jul 1.
    Carbohydrate and Lipid Metabolism Research Unit, Department of Medicine, University of the Witwatersrand, 7 York Rd, Parktown 2193, Johannesburg, South Africa.
    Aims: Homozygous familial hypercholesterolaemia (FH) is a rare inherited disorder characterized by extreme hypercholesterolaemia from birth, accelerated atherosclerosis, and premature death. Many forms of lipid-lowering therapies have been used in the past, but definitive evidence of benefit has been lacking. We therefore undertook a retrospective survey of lipid levels and clinical outcomes of FH homozygotes treated with a combination of lipid-lowering measures between 1990 and 2014 in South Africa and the UK. Read More

    Plasma inducible degrader of the LDLR, soluble low-density lipoprotein receptor, and proprotein convertase subtilisin/kexin type 9 levels as potential biomarkers of familial hypercholesterolemia in children.
    J Clin Lipidol 2017 Oct 12. Epub 2017 Oct 12.
    Vascular Medicine and Metabolism Unit, Research Unit on Lipids and Atherosclerosis, Sant Joan University Hospital, Universitat Rovira i Virgili, IISPV, Reus, Spain; Spanish Biomedical Research Centre in Diabetes and Associated Metabolic Disorders (CIBERDEM), Madrid, Spain.
    Background: Familial hypercholesterolemia (FH) in children is under-detected. Plasma biomarkers associated with low-density lipoprotein receptor (LDLR) function could help identifying FH children.

    Objectives: We aim to assess the clinical value of inducible degrader of the LDLR (IDOL), soluble LDLR (sLDLR), and proprotein convertase subtilisin/kexin type 9 (PCSK9) plasma concentrations in children with FH compared with control children (CCh). Read More

    National Dyslipidemia Registry of the Spanish Arteriosclerosis Society: Current status.
    Clin Investig Arterioscler 2017 Nov 1. Epub 2017 Nov 1.
    Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria (IIS) Aragón, Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Zaragoza, España; Universidad de Zaragoza, Zaragoza, España.
    Introduction: Clinical registries are a very effective tool to verify the usual clinical practice, to compare clinical strategies and to improve the knowledge of diagnostic and therapeutic new procedures.

    Methods: The National Registry of Dyslipemias of the Spanish Society of Arteriosclerosis (SEA) is an on-line, retrospective and prospective database where the different Spanish lipid units accredited by the SEA introduce data from patients with disorders of lipid metabolism.

    Results: The registry was created in 2013, and since then clinical, analytical, genetic and evolutionary data of 4,449 patients have been introduced until June 2017. Read More

    Tendon Pathology in Hypercholesterolemia and Familial Hypercholesterolemia.
    Curr Rheumatol Rep 2017 Nov 4;19(12):76. Epub 2017 Nov 4.
    McKay Orthopaedic Laboratory, University of Pennsylvania, Stemmler Hall 36th Street and Hamilton Walk, Philadelphia, PA, 19104, USA.
    Purpose Of Review: Hypercholesterolemia (HC), or high cholesterol, is usually caused by diet, other health conditions, or inherited diseases, such as familial hypercholesterolemia (FHC). Studies have shown patients with hypercholesterolemia are more prone to tendon injury and impaired healing. Nonetheless, the mechanism by which high cholesterol alters the biochemical and biomechanical properties of tendon and the healing environment is not well defined. Read More

    Network analysis reveals a causal role of mitochondrial gene activity in atherosclerotic lesion formation.
    Atherosclerosis 2017 Oct 21;267:39-48. Epub 2017 Oct 21.
    Deutsches Herzzentrum München, Klinik für Herz- und Kreislauferkrankungen, Technische Universität München, Munich, Germany; DZHK (German Research Centre for Cardiovascular Research), Munich Heart Alliance, Munich, Germany. Electronic address:
    Background And Aims: Mitochondrial damage and augmented production of reactive oxygen species (ROS) may represent an intermediate step by which hypercholesterolemia exacerbates atherosclerotic lesion formation.

    Methods: To test this hypothesis, in mice with severe but genetically reversible hypercholesterolemia (i.e. Read More

    The efficacy of anti-PCSK9 antibodies: Results from recent trials.
    Atheroscler Suppl 2017 Nov 1;30:9-18. Epub 2017 Jun 1.
    Center of Endocrinology, Diabetes and Preventive Medicine (ZEDP), University of Cologne, Kerpener Str. 62, 50937 Cologne, Germany. Electronic address:
    The serine protease proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the low-density lipoprotein (LDL) receptor (LDLR) and directs it to the lysosome for degradation. This results in decreased numbers of LDLR available on the cell surface to bind LDL particles and remove them from the circulation and a subsequent 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

    Monascus purpureus for statin and ezetimibe intolerant heterozygous familial hypercholesterolaemia patients: A clinical study.
    Atheroscler Suppl 2017 Nov;30:86-91
    Department of Internal Medicine and Medical Specialties, University of Rome 'Sapienza', Umberto I Hospital, Rome, Italy.
    Background: Hypercholesterolaemia is a major risk factor for cardiovascular disease and requires effective therapy in affected patients. Statins, the mainstay of lipid-lowering therapy, can cause side effects, including myalgia, in some patients. Ezetimibe, is frequently used as an add-on therapy for statins, and is also used as a monotherapy in statin-intolerant patients, however elevations in liver transaminases can occur. Read More

    Cascade screening for familial hypercholesterolemia: Practical consequences.
    Atheroscler Suppl 2017 Nov 1;30:77-85. Epub 2017 Jun 1.
    Department of Internal Medicine, Division Vascular Medicine, Erasmus MC, Rotterdam, The Netherlands. Electronic address:
    Familial Hypercholesterolemia (FH) is an autosomal dominant disorder mainly caused by mutations in the LDLR gene, resulting in elevated serum cholesterol levels and elevated risk of premature cardiovascular disease (CVD). Timely treatment with lipid lowering medication can lower the risk of CVD to the same level of the normal population. Currently the incidence of FH is estimated at 1 in 240 persons in the Caucasian population. Read More

    CaRe high - Cascade screening and registry for high cholesterol in Germany.
    Atheroscler Suppl 2017 Nov 1;30:72-76. Epub 2017 Jun 1.
    D•A•CH-Gesellschaft Prävention von Herz-Kreislauf-Erkrankungen e.V., Hamburg, Germany; Synlab Academy, Synlab Holding Germany GmbH, Mannheim, Germany; Clinical Institut for Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Austria; Medical Clinic V (Nephrology, Hypertension, Rheumatology, Endocrinology, Diabetology), Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany.
    Introduction: Familial hypercholesterolemia (FH) is an inherited disorder of the LDL metabolism, leading to cardiovascular disease, even at young age. This risk can be significantly lowered by early diagnosis and treatment. About 270,000 patients affected in Germany are not diagnosed correctly and only a small number is treated properly. Read More

    Analysis of lipid metabolism and its impact on the risk of ischemic heart disease in patients with definite familial hypercholesterolemia.
    Atheroscler Suppl 2017 Nov 1;30:56-62. Epub 2017 Jun 1.
    Lipidology and Lipoprotein Apheresis Center, Department of Internal Medicine III, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Fetscherstr. 74, 01307 Dresden, Germany.
    Aim: to analyze the relationship between lipid disturbance, including lipoprotein(a) (Lp(a)) levels, and development of ischemic heart disease (IHD) in patients with familial hypercholesterolemia (FH).

    Materials And Methods: 81 patients (middle age was 39.1 ± 0. Read More

    Current insights into the German lipoprotein apheresis standard: PCSK9-inhibitors, lipoprotein apheresis or both?
    Atheroscler Suppl 2017 Nov 1;30:44-49. Epub 2017 Jun 1.
    Department of Medicine II for Nephrology, Hypertension and Vascular Risks, AGAPLESION Markus Hospital, Frankfurt, Germany.
    According to current European guidelines, lipid lowering therapy for progressive cardiovascular disease including cardiovascular events has to be focused on a target level for LDL-C. In contrast for Lp(a) a threshold has to be defined with respect to the method of measurement. However, due to new lipid lowering drug developments like PCSK9-inhibitors (PCSK-9-I) a therapeutic algorithm for patients with severe hypercholesterolemia or isolated Lipoprotein(a)-hyperlipoproteinemia with progressive cardiovascular disease may be necessary to manage the use of PCSK9-I, lipoprotein apheresis (LA) or both. Read More

    Lipoprotein apheresis downregulates IL-1α, IL-6 and TNF-α mRNA expression in severe dyslipidaemia.
    Atheroscler Suppl 2017 Nov;30:200-208
    Fresenius Medical Care Deutschland GmbH, Bad Homburg, Germany.
    Background And Aims: Dyslipidaemias are associated with cardiovascular mortality and morbidity, driven by unstable atherosclerotic plaques with inflammatory infiltrates. Levels of messenger RNA (mRNA) for pro-inflammatory cytokines have been positively correlated with atherosclerotic disease progression. Therapeutic lipoprotein apheresis (LA) reduces plasma lipid levels and reduces inflammation. Read More

    Antioxidant defense system in familial hypercholesterolemia and the effects of lipoprotein apheresis.
    Atheroscler Suppl 2017 Nov 31;30:159-165. Epub 2017 May 31.
    3rd Department of Internal Medicine, Metabolism and Gerontology, University Hospital Hradec Králové and Medical Faculty Charles University in Hradec Králové, Czech Republic.
    Oxidative stress is thought to play an important role in the pathogenesis of disorders associated with atherosclerosis. Alpha-tocopherol is considered to be an effective lipophilic antioxidant, which protects lipid membranes against peroxidation and thus prevents cell damage by reaction with free radicals. However, measurement of alpha-tocopherol concentration in serum does not reflect the content of α-tocopherol in membranes whereas erythrocyte alpha-tocopherol may be good indicator of antioxidative status. Read More

    LDL apheresis improves coronary flow reserve on the left anterior descending artery in patients with familial hypercholesterolemia and chronic ischemic heart disease.
    Atheroscler Suppl 2017 Nov 1;30:135-140. Epub 2017 Jun 1.
    Fondazione Toscana Gabriele Monasterio, Pisa, Italy.
    Background: LDL apheresis (LA) influences the microcirculation, endothelial function and cardiovascular homeostasis. The aim of our study was to analyze temporal variations of coronary flow reserve (CFR) on the left anterior descending artery, obtained during dipyridamole stress echocardiography (DSE), in patients with severe familial hypercholesterolemia on LA (LA group) or not (not LA group) and ischemic heart disease (IHD).

    Methods: The LA group consisted in 10 patients (mean age 65 ± 7 years, male 70%) with Familial Hypercholesterolemia and chronic IHD on maximally tolerated lipid lowering therapy and chronic LA treatment (median 7 years, interquartile range 6-14 years). Read More

    Analysis of circulating miRNAs in patients with familial hypercholesterolaemia treated by LDL/Lp(a) apheresis.
    Atheroscler Suppl 2017 Nov 1;30:128-134. Epub 2017 Jun 1.
    Centre for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic; Department of Internal Medicine, 2nd Medical Faculty, Charles University, Prague, Czech Republic.
    Background: LDL/Lp(a) apheresis therapy is a well-established method of aggressively lowering LDL and Lp(a). Recently, miRNAs have been discussed as markers of vascular status including atherosclerosis. MiRNAs inhibit post-transcriptional processes through RNA duplex formation resulting in gene silencing or regulation of gene expression. Read More

    Pleiotropic effects of regular lipoprotein-apheresis.
    Atheroscler Suppl 2017 Nov 1;30:122-127. Epub 2017 Jun 1.
    Medical University of Vienna, Dept. of Internal Medicine III, Nephrology, Vienna, Austria.
    Background: Lipoprotein(LP)-apheresis is the treatment of choice in patients suffering from severe familial hypercholesterolemia. A wide range of mechanisms has been claimed to be responsible for the known clinical benefit.

    Methods: Patients suffering from heterozygous familial hypercholesterolemia undergoing LP-apheresis either with direct adsorption of lipoproteins (DALI) or dextran sulfate (DS) were examined. Read More

    History of lipidology and lipoprotein apheresis.
    Atheroscler Suppl 2017 Nov 1;30:1-8. Epub 2017 Jun 1.
    Lipidology and Lipoprotein Apheresis Center, Department of Internal Medicine III, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Fetscherstr. 74, 01307 Dresden, Germany. Electronic address:
    This review tells the story of atherosclerosis research in the beginning of the 20th century. It presents the significance of cardiovascular diseases and addresses major questions currently being discussed among lipidologists and the current thinking with respect to low LDL-cholesterol levels and HDL. It provides an overview of the period during which lipid-modifying drugs were introduced and their relevance with respect to cardiovascular outcome data and lists possible reasons why some patients develop new cardiovascular events while being treated with statins. Read More

    miR-505-3p controls chemokine receptor up-regulation in macrophages: role in familial hypercholesterolemia.
    FASEB J 2017 Oct 31. Epub 2017 Oct 31.
    Catalan Institute of Cardiovascular Sciences (ICCC), Sant Pau Biomedical Research Institute (IIB-Sant Pau) Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Hospital de Sant Pau, Barcelona, Spain.
    Familial hypercholesterolemia (FH) conveys a high risk of premature atherosclerosis as a result of lifelong exposure to high LDL cholesterol levels that are not fully reduced by standard-of-care lipid-lowering treatment. Inflammatory mediators have played a role in the progression of atherosclerotic lesions. Here, we investigated whether innate immunity cells in patients with FH have a specific proinflammatory phenotype that is distinct from that of cells in normal participants. Read More

    Familial hypercholesterolemia in Chinese patients with premature ST-segment-elevation myocardial infarction: Prevalence, lipid management and 1-year follow-up.
    PLoS One 2017 31;12(10):e0186815. Epub 2017 Oct 31.
    Department of Cardiology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.
    Background: Familial hypercholesterolemia (FH), characterized by elevated plasma low-density lipoprotein-cholesterol (LDL-C) levels and premature coronary artery disease (CAD), remains mostly underdiagnosed and undertreated. We investigated the prevalence of clinical FH among Chinese patients with premature ST-segment-elevation myocardial infarction (STEMI) and one-year follow-up on their lipid management and cardiovascular events.

    Methods: Four hundred and ninety-eight premature STEMI patients (363men) were enrolled. Read More

    Proprotein Convertase Subtilisin/Kexin Type 9 Inhibitor Therapy: Payer Approvals and Rejections, and Patient Characteristics for Successful Prescribing.
    Circulation 2017 Oct 30. Epub 2017 Oct 30.
    Richard A. and Susan F. Smith Center for Outcomes Research in Cardiology, Beth Israel Deaconess Medical Center, Boston, MA
    Background - Proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i) are a novel class of medications for patients with familial hypercholesterolemia or clinical atherosclerotic cardiovascular disease (ASCVD) requiring additional lipid lowering beyond dietary measures and statin use. Because of the drugs' high cost, rates of prescription approval by payers may be low. We aimed to identify payer approval and rejection rates for PCSK9i prescriptions, and potential factors influencing these rates. Read More

    Antihypercholesterolemic Effects of Fruit Aqueous Extract of Copernicia prunifera (Miller) H. E. Moore in Mice Diet-Induced Hypercholesterolemia.
    Evid Based Complement Alternat Med 2017 11;2017:6376173. Epub 2017 Jun 11.
    Northeast Biotechnology Network, Graduate Program of Biotechnology, State University of Ceará, Itaperi Campus, 60714-903 Fortaleza, CE, Brazil.
    The present objective of the investigation is to evaluate the antihypercholesterolemic activity of the aqueous fruit pulp extract (APE) of Copernicia prunifera (Miller) H. E. Moore (Arecaceae family). Read More

    Health disparities among adult patients with a phenotypic diagnosis of familial hypercholesterolemia in the CASCADE-FH™ patient registry.
    Atherosclerosis 2017 Oct 6;267:19-26. Epub 2017 Oct 6.
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, University of Texas Southwestern, Dallas, TX, USA. Electronic address:
    Background And Aims: Most familial hypercholesterolemia (FH) patients remain undertreated, and it is unclear what role health disparities may play for FH patients in the US. We sought to describe sex and racial/ethnic disparities in a national registry of US FH patients.

    Methods: We analyzed data from 3167 adults enrolled in the CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia (CASCADE-FH) registry. Read More

    Relationship Between Total Serum Bilirubin Levels and Carotid and Femoral Atherosclerosis in Familial Dyslipidemia.
    Arterioscler Thromb Vasc Biol 2017 Oct 26. Epub 2017 Oct 26.
    From the Endocrinology and Nutrition Service, Institut d'Investigacions Biomèdiques August Pi Sunyer, Hospital Clínic, Barcelona, Spain (A.J.A., E.O., M.C., A.S.-V., E.R.); Centro de Investigación Biomédica en Red Fisiopatología de la Obesidad y Nutrición, Instituto de Salud Carlos III, Spain (A.J.A., E.O., M.C., A.S.-V., E.R.); Service of Endocrinology, Hospital Universitari Mútua de Terrassa, Spain (V.P.); and Vascular Unit, Centre de Diagnòstic per l'Imatge, Institut d'Investigacions Biomèdiques August Pi Sunyer, Hospital Clínic, Barcelona, Spain (I.N., R.G.).
    Objective: Bilirubin is a potent antioxidant that has been inversely related to cardiovascular disease. There is little information on serum total bilirubin (TB) in relation to atherosclerosis in familial dyslipidemia. We assessed the association between TB and carotid and femoral atherosclerosis in this high-risk group. Read More

    An enquiry based on a standardised questionnaire into knowledge, awareness and preferences concerning the care of familial hypercholesterolaemia among primary care physicians in the Asia-Pacific region: the "Ten Countries Study".
    BMJ Open 2017 Oct 25;7(10):e017817. Epub 2017 Oct 25.
    School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Australia.
    Objective: To determine physicians' knowledge, awareness and preferences regarding the care of familial hypercholesterolaemia (FH) in the Asia-Pacific region.

    Setting: A formal questionnaire was anonymously completed by physicians from different countries/regions in the Asia-Pacific. The survey sought responses relating to general familiarity, awareness of management guidelines, identification (clinical characteristics and lipid profile), prevalence and inheritance, extent of elevation in risk of cardiovascular disease (CVD) and practice on screening and treatment. Read More

    Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-old Girl.
    Balkan Med J 2017 Oct 26. Epub 2017 Oct 26.
    Background: Homozygous familial hypercholesterolemia (HoFH) is a rare inherited metabolic disease, caused by low-density lipoprotein receptor abnormality. Patients with HoFH have an increased risk for cardiovascular complication (CVC) that usually occurs in the first decade of life. We report a twelve years-old girl with unpredicted presentation for coronary artery disease (CAD) and she was found to have HoFH. Read More

    Long-term safety, tolerability, and efficacy of evolocumab in patients with heterozygous familial hypercholesterolemia.
    J Clin Lipidol 2017 Sep 22. Epub 2017 Sep 22.
    Department of Clinical Biochemistry, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.
    Background: Evolocumab, a fully human monoclonal antibody against proprotein convertase subtilisin/kexin type 9, is safe and effective when dosed biweekly (Q2W) or monthly (QM) in patients with heterozygous familial hypercholesterolemia (HeFH) as demonstrated in two 12-week trials: Reduction of LDL-C With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder (RUTHERFORD; phase 2) and RUTHERFORD-2 (phase 3).

    Objective: The objective of the study was to evaluate long-term efficacy, safety, and tolerability of evolocumab during open-label extension trials.

    Methods: Patients completing parent trials were re-randomized 2:1 to evolocumab plus standard of care (SOC) or SOC alone for 52 weeks (Open-Label Study of Long-term Evaluation Against LDL-C [OSLER-1]) or 48 weeks (OSLER-2). Read More

    ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols.
    J Clin Lipidol 2017 Oct 4. Epub 2017 Oct 4.
    Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón (IIS Aragón), CIBERCV, Universidad de Zaragoza, Zaragoza, Spain.
    Context: Approximately 20% to 40% of clinically defined familial hypercholesterolemia (FH) cases do not show a causative mutation in candidate genes (mutation-negative FH), and some of them may have a polygenic origin.

    Objective: The aim of this work was to study the prevalence of ABCG5/G8 genetic variants in mutation-negative FH, as defects in these genes relate to intestinal hyperabsorption of cholesterol and thus ABCG5/G8 variants could explain in part the mechanism of hypercholesterolemia.

    Design, Setting, And Patients: We sequenced the ABCG5/G8 genes in 214 mutation-negative FH and 97 controls. Read More

    Detection and management of familial hypercholesterolaemia in primary care in Australia: protocol for a pragmatic cluster intervention study with pre-post intervention comparisons.
    BMJ Open 2017 Oct 22;7(10):e017539. Epub 2017 Oct 22.
    Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, Western Australia, Australia.
    Introduction: Familial hypercholesterolaemia (FH), an autosomal dominant disorder of lipid metabolism, results in accelerated onset of atherosclerosis if left untreated. Lifelong treatment with diet, lifestyle modifications and statins enable a normal lifespan for most patients. Early diagnosis is critical. Read More

    Effects of 12 weeks of treatment with intravenously administered bococizumab, a humanized monoclonal antibody blocking proprotein convertase subtilisin/kexin type 9, in hypercholesterolemic subjects on high-dose statin.
    Cardiovasc Ther 2017 Oct 23. Epub 2017 Oct 23.
    Pfizer Inc, South San Francisco and San Diego, CA, USA.
    Aims: Two multiple-dose phase II studies were conducted in subjects with primary hypercholesterolemia to evaluate the LDL-C lowering efficacy, safety, and tolerability of bococizumab, a proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor.

    Methods: The results from the two phase II, double-blinded, randomized, placebo-controlled, multicenter studies conducted in the USA and Canada were combined. In Study 1, 90 subjects with LDL-C ≥100 mg/dL received intravenous (IV) placebo or bococizumab 0. Read More

    Familial hypercholesterolaemia in patients with ischemic stroke or transient ischemic attack.
    Eur J Neurol 2017 Oct 20. Epub 2017 Oct 20.
    Department of Neurology, Medical University of Innsbruck, Anichstraße 35, A-6020, Innsbruck, Austria.
    Background And Aims: Identification of patients with familial hypercholesterolemia (FH) is a prerequisite for the appropriate management of their excess cardiovascular risk. It is currently unknown how many patients with acute ischemic stroke or transient ischemic attack (TIA) are affected by FH and whether systematic screening for FH is warranted in these patients.

    Methods: The prevalence of a clinical diagnosis of FH was estimated in a large representative series of patients with acute ischemic stroke or TIA (ABCD2 score ≥3) using the Dutch Lipid Clinic Network Algorithm (DLCNA; possible FH ≥3, probable/definite FH ≥6). Read More

    Effect of one-time brief additional counseling on periodic health examination for 40- and 66-year-olds: 2-Year follow up of 101 260 participants.
    Geriatr Gerontol Int 2017 Oct 18. Epub 2017 Oct 18.
    Department of Family Medicine, Seoul National University Hospital, Seoul, Korea.
    Aim: The aim of the present study was to evaluate whether the effect of one-time brief additional counseling in periodic health examinations (PHE) through the National Screening Program for the Translational Ages in Korea is sustained after 2 years.

    Methods: We collected data from National Screening Program for the Translational Ages participants in 2007 and 2008. To evaluate behavior change after 2 years, we collected the participants' health behavior data 2 years later (2009 and 2010). Read More

    Prediction of cardiovascular risk in patients with familial hypercholesterolaemia.
    Eur Heart J Qual Care Clin Outcomes 2017 Oct;3(4):274-280
    Endocrinology - Metabolism and Prevention of Cardiovascular Diseases, Hôpital Pitié Salpêtrière, 47-83 Boulevard de l'Hôpital, Paris, 75651, France.
    Aims: Patients with familial hypercholesterolaemia (FH) have an elevated cardiovascular (CV) risk. The objective of this analysis was to adjust CV risk equations derived in non-FH populations with hyperlipidaemia to predict CV risk in FH patients, and then to use these adjusted CV risk equations in a decision analytic model in order to predict lifetime CV risk in FH patients.

    Methods And Results: A literature search of publications reporting CV risk in FH patients identified the publication with the most credible estimate of CV risk increase. Read More

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