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    12028 results match your criteria Hyperlipoproteinemia

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    Roles of high apolipoprotein E blood levels and HDL in development of familial dysbetalipoproteinemia in ε2ε2 subjects.
    Clin Biochem 2017 Nov 17. Epub 2017 Nov 17.
    Departments of Nephrology, University of Groningen, 9700 RB Groningen, The Netherlands; Departments of Nephrology, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.
    Objective: Familial dysbetalipoproteinemia (FD) or Type III hyperlipoproteinemia is a mixed hyperlipidemia closely associated with the ε2ε2 genotype of the common APOE polymorphism although not all homozygotes progress to FD. Unlike the polymorphism, few studies explore effects of apolipoprotein E (apoE) blood levels on FD development. Likewise, despite the known apoE2 lipoprotein binding preference for high-density lipoprotein (HDL); little work exists exploring HDL in FD. Read More

    Case of familial hyperlipoproteinemia type III hypertriglyceridemia induced acute pancreatitis: Role for outpatient apheresis maintenance therapy.
    World J Gastroenterol 2017 Oct;23(40):7332-7336
    Division of Gastroenterology and Liver Disease, Department of Internal Medicine, University Hospitals Cleveland Medical Center, Case Western Reserve University, Cleveland, OH 44106, United States.
    Hypertriglyceridemic pancreatitis (HTGP) accounts for up to 10% of acute pancreatitis presentations in non-pregnant individuals and is the third most common cause of acute pancreatitis after alcohol and gallstones. There are a number of retrospective studies and case reports that have suggested a role for apheresis and insulin infusion in the acute inpatient setting. We report a case of HTGP in a male with hyperlipoproteinemia type III who was treated successfully with insulin and apheresis on the initial inpatient presentation followed by bi-monthly outpatient maintenance apheresis sessions for the prevention of recurrent HTGP. 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

    Kinetics of Lipoprotein(a) in patients undergoing weekly lipoprotein apheresis for Lp(a) hyperlipoproteinemia.
    Atheroscler Suppl 2017 Nov;30:209-216
    Extracorporeal Treatment and Lipoprotein Apheresis Center, Department of Internal Medicine III, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Germany.
    Introduction: Lipoprotein apheresis (LA) represents the only effective therapeutic option for patients with elevated Lipoprotein(a) (Lp(a)) levels. We aimed at analyzing the Lp(a) reduction, rebound rates as well as mean interval values between two weekly apheresis sessions, since this might be important for the prediction of the residual cardiovascular risk and development of individualized approaches for this special therapeutic strategy.

    Materials And Methods: 20 patients under weekly and 2 patients under twice weekly apheresis were included. Read More

    Effect of different lipid apheresis methods on plasma polyunsaturated fatty acids.
    Atheroscler Suppl 2017 Nov 3;30:193-199. Epub 2017 Jun 3.
    Medical Department, Division of Hepatology and Gastroenterology (Including Metabolic Diseases), Charité University Medicine Berlin, Campus Virchow Klinikum, Berlin, Germany; Medical Department, Division of Gastroenterology, Oncology, Hematology, Rheumatology and Diabetes, Ruppiner Kliniken, Brandenburg Medical School, Neuruppin, Germany; Experimental and Clinical Research Centre, Charité University Medicine, Campus Buch, Berlin, Germany. Electronic address:
    Lipoprotein apheresis has been shown to improve the cardiovascular outcome in patients with atherosclerotic disease and therapy-refractory hypercholesterolemia or elevated lipoprotein (a) (Lp(a)). An elevated intake of omega-3 polyunsaturated fatty acids such as eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) has also been associated with a reduced cardiovascular risk. However, until now only little is known about the effect of apheresis treatment on the levels of omega-6 and omega-3 polyunsaturated fatty acids (n-6 PUFA and n-3 PUFA) in patients. Read More

    Lipoprotein apheresis in patients with peripheral artery disease and lipoprotein(a)-hyperlipoproteinemia: 2-year follow-up of a prospective single center study.
    Atheroscler Suppl 2017 Nov 1;30:174-179. Epub 2017 Jun 1.
    Helios Klinikum Emil von Behring, Klinik für Gefäßmedizin, Walterhöferstraße. 11, 14165 Berlin, Germany. Electronic address:
    Objective: Elevated plasma levels of lipoprotein(a) [Lp(a)], referred to as lipoprotein(a)-hyperlipoproteinemia [Lp(a)-HLP], are an independent risk factor for atherosclerosis. Lipoprotein apheresis (LA) enables an effective reduction of Lp(a) plasma levels. The present study investigates the effects of LA in patients with Lp(a)-HLP and peripheral artery disease (PAD). 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

    Relationship Between Total Serum Bilirubin Levels and Carotid and Femoral Atherosclerosis in Familial Dyslipidemia.
    Arterioscler Thromb Vasc Biol 2017 Dec 26;37(12):2356-2363. 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

    Cholesterotic Fibrous Histiocytoma in a Patient with Metabolic Syndrome.
    Case Rep Dermatol 2017 May-Aug;9(2):136-140. Epub 2017 Aug 17.
    Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan.
    Among the many variants of dermatofibroma, dermatofibroma with cholesterol cleft (cholesterotic fibrous histiocytoma) is extremely rare. Here, we describe the case of a 50-year-old male patient with a cholesterotic fibrous histiocytoma on his left lower leg. He presented with a hyperkeratotic nodule 6 mm in diameter with a brown surface on the extensor surface of his left lower leg. Read More

    Association between apolipoproteins AI and B and ultrasound indicators of carotid atherosclerosis.
    Curr Vasc Pharmacol 2017 Oct 10. Epub 2017 Oct 10.
    Faculty of Medicine University Novi Sad, Novi Sad. Serbia.
    Background: Apolipoproteins A-I and B (apoA-I and apoB) may be better indicators of the risk of cardiovascular and cerebrovascular diseases than conventional risk factors (RFs). The onset of ischemic stroke (IS) may be preceded by the development of atherosclerotic changes in carotid arteries, which can be detected by ultrasound. Only a certain % of patients with IS have an (underlying) carotid etiology. Read More

    Overexpression of tissue-nonspecific alkaline phosphatase (TNAP) in endothelial cells accelerates coronary artery disease in a mouse model of familial hypercholesterolemia.
    PLoS One 2017 12;12(10):e0186426. Epub 2017 Oct 12.
    Department of Biomedical Sciences, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, New York, United States of America.
    Objective: Overexpression of tissue-nonspecific alkaline phosphatase (TNAP) in endothelium leads to arterial calcification in mice. The purpose of this study was to examine the effect of elevated endothelial TNAP on coronary atherosclerosis. In addition, we aimed to examine endogenous TNAP activity in human myocardium. Read More

    Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome.
    J Am Coll Cardiol 2017 Oct;70(14):1732-1740
    Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain; CIBER in Cardiovascular Diseases (CIBERCV), Madrid, Spain; Faculty of Health Sciences, University Francisco de Vitoria (UFV), Pozuelo de Alarcon, Madrid, Spain. Electronic address:
    Background: Genetic screening programs in unselected individuals with increased levels of low-density lipoprotein cholesterol (LDL-C) have shown modest results in identifying individuals with familial hypercholesterolemia (FH).

    Objectives: This study assessed the prevalence of genetically confirmed FH in patients with acute coronary syndrome (ACS) and compared the diagnostic performance of FH clinical criteria versus FH genetic testing.

    Methods: Genetic study of 7 genes (LDLR, APOB, PCSK9, APOE, STAP1, LDLRAP1, and LIPA) associated with FH and 12 common alleles associated with polygenic hypercholesterolemia was performed in 103 patients with ACS, age ≤65 years, and LDL-C levels ≥160 mg/dl. Read More

    Scavenger Receptor LOX1 Genotype Predicts Coronary Artery Disease in Patients With Familial Hypercholesterolemia.
    Can J Cardiol 2017 Oct 29;33(10):1312-1318. Epub 2017 Jul 29.
    Nutrition, Metabolism, and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Montréal, Québec, Canada; Division of Experimental Medicine, Department of Medicine, McGill University, Montréal, Québec, Canada; Division of Medical Biochemistry, Department of Medicine, McGill University, Montréal, Québec, Canada. Electronic address:
    Background: Familial hypercholesterolemia (FH) is a monogenic disease associated with elevated low-density lipoprotein (LDL) cholesterol and oxidized LDL (oxLDL) leading to premature cardiovascular disease. Lectin-like oxLDL receptor-1 (LOX1) is one of the major contributors of oxLDL uptake and degradation in macrophages, which leads to foam cell formation and the development of atherosclerosis. This study investigated the effect of the rs11053646 genotype of the oxidized low-density lipoprotein receptor 1 (OLR1) gene on coronary artery disease (CAD) risk in a cohort of FH patients. Read More

    Effect of adding bezafibrate to standard lipid-lowering therapy on post-fat load lipid levels in patients with familial dysbetalipoproteinemia. A randomized placebo-controlled crossover trial.
    J Lipid Res 2017 Nov 19;58(11):2180-2187. Epub 2017 Sep 19.
    Department of Vascular Medicine University Medical Center Utrecht, Utrecht, The Netherlands
    Familial dysbetalipoproteinemia (FD) is a genetic disorder associated with impaired postprandial lipid clearance. The effect of adding bezafibrate to standard lipid-lowering therapy on postprandial and fasting lipid levels in patients with FD is unknown. In this randomized placebo-controlled double-blind crossover trial, 15 patients with FD received bezafibrate and placebo for 6 weeks in randomized order in addition to standard lipid-lowering therapy (statin, ezetimibe, and/or lifestyle). Read More

    Anti-PCSK9 antibodies for the treatment of heterozygous familial hypercholesterolemia: patient selection and perspectives.
    Vasc Health Risk Manag 2017 4;13:343-351. Epub 2017 Sep 4.
    Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano.
    Heterozygous familial hypercholesterolemia (FH) is a genetic disorder characterized by high low-density lipoprotein cholesterol levels from birth, which exposes the arteries to high levels of atherogenic lipoproteins lifelong and results in a significantly increased risk of premature cardiovascular events. The diagnosis of FH, followed by an appropriate and early treatment is critical to reduce the cardiovascular burden in this population. Phase I-III clinical trials showed the benefit of proprotein convertase subtilisin kexin 9 inhibitors, both alirocumab and evolocumab, in these patients with an average low-density lipoprotein cholesterol reduction ranging from -40% to -60%. Read More

    A case of severe acquired hypertriglyceridemia in a 7-year-old girl.
    J Clin Lipidol 2017 Nov - Dec;11(6):1480-1484. Epub 2017 Aug 12.
    Department of Medicine, Center for Preventive Cardiology, Knight Cardiovascular Institute, Oregon Health & Science University, Portland, OR, USA. Electronic address:
    We report a case of severe type I hyperlipoproteinemia caused by autoimmunity against lipoprotein lipase (LPL) in the context of presymptomatic Sjögren's syndrome. A 7-year-old mixed race (Caucasian/African American) girl was admitted to the intensive care unit at Vanderbilt Children's Hospital with acute pancreatitis and shock. She was previously healthy aside from asthma and history of Hashimoto's thyroiditis. Read More

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

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

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

    Assessment of physicians' awareness and knowledge of familial hypercholesterolemia in Saudi Arabia: Is there a gap?
    PLoS One 2017 17;12(8):e0183494. Epub 2017 Aug 17.
    Department of Cardiac Sciences, King Fahad Cardiac Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
    Background: The scarcity of familial hypercholesterolemia (FH) cases reported in Saudi Arabia might be indicative of a lack of awareness of this common genetic disease among physicians.

    Objective: To assess physicians' awareness, practice, and knowledge of FH in Saudi Arabia.

    Methods: This is a cross-sectional study conducted among physicians at four tertiary hospitals in Riyadh, Saudi Arabia between March 2016 and May 2016 using a self-administered questionnaire. Read More

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

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

    The prevalence of familial hypercholesterolemia in the West Siberian region of the Russian Federation: A substudy of the ESSE-RF.
    PLoS One 2017 18;12(7):e0181148. Epub 2017 Jul 18.
    National Research Center for Preventive Medicine, Moscow, Russia.
    Background: The prevalence of familial hypercholesterolemia (FH) in Russia has not previously been evaluated. The aim of our study was to investigate the prevalence of FH in the population of the West Siberian region of Russia, and then estimate the frequency of coronary artery disease (CAD) and treatment with cholesterol-lowering medication in FH patients.

    Methods: The sample of our study consisted of participants from the population-based cohort of The Epidemiology of Cardiovascular Risk Factors and Diseases in Regions of the Russian Federation Study (ESSE-RF), conducted in the Tyumen and Kemerovo regions (1,630 and 1,622 people, respectively, aged 25-64). Read More

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

    Aortic Vascular Calcification: Cholesterol Lowering Does Not Reduce Progression in Patients With Familial Hypercholesterolemia-or Does It?
    Can J Cardiol 2017 05 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.

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

    Efficacy of Lomitapide in the Treatment of Familial Homozygous Hypercholesterolemia: Results of a Real-World Clinical Experience in Italy.
    Adv Ther 2017 May 21;34(5):1200-1210. Epub 2017 Apr 21.
    Department of Internal Medicine and Clinical Specialties, Policlinico Umberto 1, "Sapienza" University of Rome, Rome, Italy.
    Introduction: Homozygous familial hypercholesterolaemia (HoFH) is a rare form of inherited dyslipidemia resistant to conventional cholesterol-lowering medications so that lipoprotein apheresis (LA) is usually required. Lomitapide has been approved for the treatment of HoFH. The aim of this study was to evaluate the benefits of lomitapide in HoFH patients followed with the usual clinical care. Read More

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

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

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

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