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    1168 results match your criteria Dysbetalipoproteinemia

    1 OF 24

    Association Between the Presence Carotid Artery Plaque and Cardiovascular Events in Patients With Genetic Hypercholesterolemia.
    Rev Esp Cardiol (Engl Ed) 2017 Feb 16. Epub 2017 Feb 16.
    Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón (IIS Aragón), Zaragoza, Spain.
    Introduction And Objectives: The equations used in the general population to calculate cardiovascular risk are not useful in genetic hypercholesterolemia (GH). Carotid plaque detection has proved useful in cardiovascular prediction and risk reclassification but there have been no studies of its usefulness in GH. The aim of this study was to determine the association between the presence of carotid artery plaque and the occurrence of cardiovascular events in patients with GH. Read More

    [A case of diagnosing lipoprotein glomerulopathy in Russia].
    Arkh Patol 2016 ;78(6):52-57
    Research Institute of Nephrology, I.P. Pavlov First Saint Petersburg State Medical University, Ministry of Health of the Russian Federation, Saint Petersburg, Russia.
    Lipoprotein glomerulopathy (LPG) is a rare disease characterized by specific histological, immunomorphological, and ultrastructural changes. The main pathomorphological signs of LPG are lipoprotein thrombi in the lumen of the capillary loops, proteinuria, and dyslipoproteinemia as an increased concentration of apolipoprotein E (phenotypes E2/E3, E2/E4). A patient aged 47 years had nephrotic syndrome with a daily protein loss of 12. Read More

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

    Familial dysbetalipoproteinemia: an underdiagnosed lipid disorder.
    Curr Opin Endocrinol Diabetes Obes 2017 Apr;24(2):133-139
    aVascular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands bDivision of Chemical Pathology, University of Cape Town Health Science Faculty and National Health Laboratory Service, Cape Town, South Africa.
    Purpose Of Review: To review pathophysiological, epidemiological and clinical aspects of familial dysbetalipoproteinemia; a model disease for remnant metabolism and remnant-associated cardiovascular risk.

    Recent Findings: Familial dysbetalipoproteinemia is characterized by remnant accumulation caused by impaired remnant clearance, and premature cardiovascular disease. Most familial dysbetalipoproteinemia patients are homozygous for apolipoprotein ε2, which is associated with decreased binding of apolipoprotein E to the LDL receptor. Read More

    Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene.
    Mol Genet Metab Rep 2016 Dec 25;9:67-70. Epub 2016 Oct 25.
    Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
    Subjects with hypercholesterolemia who do not carry a mutation in the low density lipoprotein receptor gene, in the apolipoprotein B gene or in the proprotein convertase subtilisin/kexin type 9 gene, could possible carry a mutation in the apolipoprotein E (APOE) gene. DNA from 844 unrelated hypercholesterolemic subjects who did not carry a mutation in any of the three above mentioned genes, was subjected to DNA sequencing of the APOE gene. Two subjects were found to be heterozygous for mutation p. Read More

    Postprandial Hyperlipidemia and Remnant Lipoproteins.
    J Atheroscler Thromb 2017 Feb 8;24(2):95-109. Epub 2016 Nov 8.
    Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine.
    Fasting hypertriglyceridemia is positively associated with the morbidity of coronary heart disease (CHD), and postprandial (non-fasting) hypertriglyceridemia is also correlated with the risk status for CHD, which is related to the increase in chylomicron (CM) remnant lipoproteins produced from the intestine. CM remnant particles, as well as oxidized low density lipoprotein (LDL) or very low density lipoprotein (VLDL) remnants, are highly atherogenic and act by enhancing systemic inflammation, platelet activation, coagulation, thrombus formation, and macrophage foam cell formation. The cholesterol levels of remnant lipoproteins significantly correlate with small, dense LDL; impaired glucose tolerance (IGT) and CHD prevalence. Read More

    Efficacy and Safety of Alirocumab in Patients with Heterozygous Familial Hypercholesterolemia and LDL-C of 160 mg/dl or Higher.
    Cardiovasc Drugs Ther 2016 Oct;30(5):473-483
    Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
    Purpose: Even with statins and other lipid-lowering therapy (LLT), many patients with heterozygous familial hypercholesterolemia (heFH) continue to have elevated low-density lipoprotein cholesterol (LDL-C) levels. ODYSSEY HIGH FH (NCT01617655) assessed the efficacy and safety of alirocumab, a proprotein convertase subtilisin/kexin type 9 monoclonal antibody, versus placebo in patients with heFH and LDL-C ≥ 160 mg/dl despite maximally tolerated statin ± other LLT.

    Methods: Patients were randomized to subcutaneous alirocumab 150 mg or placebo every 2 weeks (Q2W) for 78 weeks. Read More

    Possible involvement of PCSK9 overproduction in hyperlipoproteinemia associated with hepatocellular carcinoma: A case report.
    J Clin Lipidol 2016 Jul-Aug;10(4):1045-9. Epub 2016 May 14.
    Division of Endocrinology and Metabolism, Department of Medicine, Jichi Medical University, School of Medicine, Shimotsuke, Tochigi, Japan. Electronic address:
    Herein, we describe a 69-year-old Japanese man with massive type III hyperlipoproteinemia (total cholesterol, 855 mg/dL; triglyceride, 753 mg/dL) presenting as a paraneoplastic manifestation of hepatitis B virus-associated hepatocellular carcinoma. The messenger RNA expression of sterol regulatory element-binding protein-2 and proprotein convertase subtilisin/kexin 9 in the tumor tissue was increased by 13-fold and 4-fold, respectively, compared with the non-tumor tissue. Serum level of active form of PCSK9 was 382 ng/mL (reference range: 253 ± 79 ng/mL). Read More

    Type III Hyperlipoproteinemia: Still Worth Considering?
    Prog Cardiovasc Dis 2016 Sep - Oct;59(2):119-124. Epub 2016 Jul 30.
    Columbia University College of Physicians and Surgeons, New York, NY 10019, USA. Electronic address:
    Familial type III hyperlipoproteinemia (HLP) was first recognized as a distinct entity over 60 years ago. Since then, it has proven to be instructive in identifying the key role of apolipoprotein E (apoE) in removal of the remnants of very low density lipoproteins and chylomicrons produced by the action of lipoprotein lipase on these triglyceride-transporting lipoproteins. It has additionally shed light on the potent atherogenicity of the remnant lipoproteins. Read More

    [Up to date lipid lowering treatment].
    Orv Hetil 2016 Jul;157(31):1219-23
    III. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest.
    Considerable evidence suggests that "the lower the better" is a reasonable approach for reducing cardiovascular risk by lowering LDL cholesterol levels. Despite the reduction in cardiovascular events and mortality achieved by statin therapy, significant residual risk remains, especially in severe hereditary hypercholesterolemia, such as familial hypercholesterolemia. Some new strategies to achieve even lower LDL levels are now available, including the addition of cholesterol absorption inhibitor ezetimibe, and the recently available Proprotein convertase subtilisin/kexin type 9 monoclonal antibodies. Read More

    Efficacy and Safety of Alirocumab in Japanese Patients With Heterozygous Familial Hypercholesterolemia or at High Cardiovascular Risk With Hypercholesterolemia Not Adequately Controlled With Statins - ODYSSEY JAPAN Randomized Controlled Trial.
    Circ J 2016 Aug 22;80(9):1980-7. Epub 2016 Jul 22.
    Teikyo Academic Research Center, Teikyo University.
    Background: The ODYSSEY Japan study was designed to demonstrate the reduction in low-density lipoprotein cholesterol (LDL-C) by alirocumab as add-on to existing lipid-lowering therapy in Japanese patients with heterozygous familial hypercholesterolemia (heFH) or non-FH at high cardiovascular risk who require additional pharmacological management to achieve their LDL-C treatment goal (<2.6 or <3.1 mmol/L, depending on risk category). Read More

    Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.
    J Clin Lipidol 2016 Mar-Apr;10(2):394-409. Epub 2015 Dec 24.
    Department of Medicine (Division of Metabolism, Endocrinology and Nutrition), University of Washington, Seattle, WA, USA.
    Background: Lipoprotein lipase (LPL) deficiency is a serious lipid disorder of severe hypertriglyceridemia (SHTG) with chylomicronemia. A large number of variants in the LPL gene have been reported but their influence on LPL activity and SHTG has not been completely analyzed. Gaining insight into the deleterious effect of the mutations is clinically essential. Read More

    Macrophage Infiltration into the Glomeruli in Lipoprotein Glomerulopathy.
    Case Rep Nephrol Dial 2015 Sep-Dec;5(3):204-12. Epub 2015 Dec 15.
    Department of Internal Medicine, Fukuoka University School of Medicine, Fukuoka, Japan.
    Lipoprotein glomerulopathy (LPG) is characterized by histopathological features showing intra-glomerular lipoprotein thrombi and type III hyperlipoproteinemia (HLP), with heterozygote mutation of apolipoprotein (apo) E gene. On the other hand, as another renal lipidosis with type III HLP, apoE2 homozygote-related glomerulopathy (apoE2-GN) showing foamy macrophages has been reported. The case of a 25-year-old man who had LPG by clinical behavior and gene analysis, but demonstrated atypical histopathological features with a substantial amount of foamy macrophage infiltration in the glomeruli, is presented. Read More

    A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa.
    Case Rep Genet 2016 17;2016:8154910. Epub 2016 Jan 17.
    Center of Genetic Diseases, Emergency Children's Hospital, University of Medicine and Pharmacy, Motilor Street 68, 400370 Cluj, Romania.
    Background. Glycogen storage disease type III (GSDIII) is a rare metabolic disorder with autosomal recessive inheritance, caused by deficiency of the glycogen debranching enzyme. There is a high phenotypic variability due to different mutations in the AGL gene. Read More

    Familial hypercholesterolemia: Review of diagnosis, screening, and treatment.
    Can Fam Physician 2016 Jan;62(1):32-7
    Professor of Medicine in the Division of Cardiology in the Faculty of Medicine at the University of Alberta in Edmonton.
    Objective: To summarize the pathophysiology, epidemiology, screening, diagnosis, and treatment of familial hypercholesterolemia (FH).

    Quality Of Evidence: A PubMed search was conducted (inception to July 2014) for articles on pathophysiology, screening, diagnosis, and management of FH, supplemented with hand searches of bibliographies of guidelines and reviews. A supporting level of evidence for each recommendation was categorized as level I (randomized controlled trial or systematic review of randomized controlled trials), level II (observational study), or level III (expert opinion). Read More

    Individual analysis of patients with HoFH participating in a phase 3 trial with lomitapide: The Italian cohort.
    Nutr Metab Cardiovasc Dis 2016 Jan 11;26(1):36-44. Epub 2015 Nov 11.
    Università di Ferrara, Ferrara, Italy.
    Background And Aims: The efficacy and safety of lomitapide as adjunct treatment for adults with homozygous familial hypercholesterolaemia (HoFH) have been confirmed in a phase 3 trial. Given the small number of patients (N = 29), and variations in patient characteristics, examining individual cases provides additional details regarding patient management with lomitapide. Here, we examine the details of the Italian patient cohort in the phase 3 trial. Read More

    Influence of Abdominal Obesity on the Lipid-Lipoprotein Profile in Apoprotein E2/4 Carriers: The Effect of an Apparent Duality.
    J Lipids 2015 28;2015:742408. Epub 2015 Oct 28.
    Department of Medicine, Université de Montréal, Montreal, QC, Canada H3T 1J4 ; ECOGENE-21, Chicoutimi, QC, Canada G7H 7K9.
    Background. Apolipoprotein (Apo) E plays a key role in the handling of lipoprotein particles with ApoE2 and ApoE4 frequently having opposite effects compared to ApoE3. Some individuals simultaneously carry both E2 and E4 alleles. Read More

    Update on the molecular biology of dyslipidemias.
    Clin Chim Acta 2016 Feb 4;454:143-85. Epub 2015 Nov 4.
    Department of Biochemistry, Worcester Royal Hospital, Worcester, United Kingdom.
    Dyslipidemia is a commonly encountered clinical condition and is an important determinant of cardiovascular disease. Although secondary factors play a role in clinical expression, dyslipidemias have a strong genetic component. Familial hypercholesterolemia is usually due to loss-of-function mutations in LDLR, the gene coding for low density lipoprotein receptor and genes encoding for proteins that interact with the receptor: APOB, PCSK9 and LDLRAP1. Read More

    Use and role of monoclonal antibodies and other biologics in preventive cardiology.
    Swiss Med Wkly 2015 2;145:w14179. Epub 2015 Nov 2.
    Cardiology Division, Geneva University Hospitals, Switzerland.
    Biotechnological advances now enable the design of fully human antibodies to target specific antigens in a growing number of diseases. Monoclonal antibodies (mAbs) differ from traditional small chemical molecules in several ways: (1) biological production ‒ they are grown in and extracted from cell cultures; (2) specificity ‒ they demonstrate high target specificity, with a low risk of drug-drug interactions; (3) administration ‒ they are delivered parenterally (intravenously or subcutaneously); (4) dosage interval ‒ their extended half-lives generally allow for spaced dosing (from weekly to monthly). In cardiology, fully human mAbs directed against proprotein convertase subtilisin / kexin type 9 (PCSK9) have shown to be effective in reducing low-density lipoprotein cholesterol (LDL-C) in phase II clinical trials among patients with familial hypercholesterolaemia (FH). Read More

    Population pharmacokinetics of rosuvastatin in pediatric patients with heterozygous familial hypercholesterolemia.
    Eur J Clin Pharmacol 2016 Jan 21;72(1):19-27. Epub 2015 Sep 21.
    AstraZeneca, Alderley Park, Macclesfield, Cheshire, UK.
    Purpose: Data from two clinical studies (hyperCholesterolaemia in cHildren and Adolescents taking Rosuvastatin OpeN label [CHARON; NCT01078675] and Study 4522IL/0086) were used to describe rosuvastatin pharmacokinetics in patients with heterozygous familial hypercholesterolemia aged ≥6 to <18 years.

    Methods: Rosuvastatin concentration-time data were analyzed via non-linear mixed-effects modeling (NONMEM), with clearance (CL/F) as the pre-defined key pharmacokinetic parameter of interest. In addition, descriptive comparisons between pediatric patients and adults (healthy and dyslipidemic) were performed. Read More

    Primary hypertriglyceridemia in children and adolescents.
    J Clin Lipidol 2015 Sep-Oct;9(5 Suppl):S20-8. Epub 2015 Apr 25.
    Department of Pediatric Endocrinology and Diabetes, Cook Children's Medical Center, Fort Worth, TX, USA.
    Primary disorders of lipid metabolism causing hypertriglyceridemia (HyperTG) result from genetic defects in triglyceride synthesis and metabolism. With the exception of lipoprotein lipase deficiency, these primary HyperTG disorders usually present in adulthood. However, some are unmasked earlier by precipitating factors, such as obesity and insulin resistance, and can be diagnosed in adolescence. Read More

    ODYSSEY FH I and FH II: 78 week results with alirocumab treatment in 735 patients with heterozygous familial hypercholesterolaemia.
    Eur Heart J 2015 Nov 1;36(43):2996-3003. Epub 2015 Sep 1.
    Point Médical, Dijon, France.
    Aims: To assess long-term (78 weeks) alirocumab treatment in patients with heterozygous familial hypercholesterolaemia (HeFH) and inadequate LDL-C control on maximally tolerated lipid-lowering therapy (LLT).

    Methods And Results: In two randomized, double-blind studies (ODYSSEY FH I, n = 486; FH II, n = 249), patients were randomized 2 : 1 to alirocumab 75 mg or placebo every 2 weeks (Q2W). Alirocumab dose was increased at Week 12 to 150 mg Q2W if Week 8 LDL-C was ≥1. Read More

    Statins do not increase the risk of developing type 2 diabetes in familial hypercholesterolemia: The SAFEHEART study.
    Int J Cardiol 2015 Dec 5;201:79-84. Epub 2015 Aug 5.
    Fundación Hipercolesterolemia Familiar, Madrid, Spain. Electronic address:
    Background: Familial Hypercholesterolemia (FH) is the most common monogenic disorder that causes premature coronary artery disease (CAD). Our objective was to examine the risk of new onset type 2 diabetes mellitus (T2DM) among FH patients and unaffected relatives in relation to treatment with different statins in the SAFEHEART cohort study.

    Methods: This is a cross-sectional and prospective cohort study in 2558 FH and 1265 unaffected relatives with a mean follow-up of 5. Read More

    Role of apolipoprotein E in neurodegenerative diseases.
    Neuropsychiatr Dis Treat 2015 16;11:1723-37. Epub 2015 Jul 16.
    Department of Neurology, Seoul National University College of Medicine in Seoul National Bundang Hospital, Seoul, South Korea.
    Apolipoprotein E (APOE) is a lipid-transport protein abundantly expressed in most neurons in the central nervous system. APOE-dependent alterations of the endocytic pathway can affect different functions. APOE binds to cell-surface receptors to deliver lipids and to the hydrophobic amyloid-β peptide, regulating amyloid-β aggregations and clearances in the brain. Read More

    Dysbetalipoproteinemia: an extreme disorder of remnant metabolism.
    Curr Opin Lipidol 2015 Aug;26(4):292-7
    Chemical Pathology, University of Cape Town Health Science Faculty, National Health Laboratory Service and Medical Research Council Cape Heart Group, Cape Town, South Africa.
    Purpose Of Review: Lipoprotein metabolism and the role of apolipoprotein E in the pathogenesis of dysbetalipoproteinemia.

    Recent Findings: Remnant lipoproteins, modulated by lifestyle and genetic factors, are atherogenic. Dysbetalipoproteinemia could be viewed as a monogenic disorder of remnant metabolism. Read More

    Dutch Lipid Clinic Network low-density lipoprotein cholesterol criteria are associated with long-term mortality in the general population.
    Arch Cardiovasc Dis 2015 Oct;108(10):511-8
    Fédération de cardiologie, TSA 50032, CHU de Rangueil, 31059 Toulouse cedex 9, France; Département d'épidémiologie, économie de la santé et santé publique, UMR1027 Inserm, université Toulouse III, 31073 Toulouse, France. Electronic address:
    Background: Heterozygous familial hypercholesterolaemia (HeFH) is a severe autosomal dominant disease that is underdiagnosed, inadequately treated and has a severe long-term cardiovascular risk. Few studies have evaluated the long-term risk of high low-density lipoprotein cholesterol (LDL-C) concentrations.

    Aim: To evaluate long-term mortality in a large cohort of healthy subjects, according to LDL-C concentrations. Read More

    Treatment of primary hypertriglyceridemia states--General approach and the role of extracorporeal methods.
    Atheroscler Suppl 2015 May;18:85-94
    Department of Internal Medicine III, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Fetscherstr 74, 01307 Dresden, Germany.
    Hypertriglyceridemia (HTG) is a common metabolic disorder in which the concentration of very low density lipoproteins (VLDL) and of chylomicrons (CMs) is elevated in the plasma. HTG may be caused by primary and/or secondary causes and affected subjects may express HTG when children or in adulthood. In children and adults a genetic cause may underlie HTG which can be expressed as CMs a severe clinical picture known as Familial Hyperchylomicronemia due to lipoprotein lipase (LPL) or apolipoprotein (apo) CII deficiencies. Read More

    The lipid-lowering effects of lomitapide are unaffected by adjunctive apheresis in patients with homozygous familial hypercholesterolaemia - a post-hoc analysis of a Phase 3, single-arm, open-label trial.
    Atherosclerosis 2015 Jun 14;240(2):408-14. Epub 2015 Mar 14.
    University of Pennsylvania, Philadelphia, PA, USA. Electronic address:
    Objective: Lomitapide (a microsomal triglyceride transfer protein inhibitor) is an adjunctive treatment for homozygous familial hypercholesterolaemia (HoFH), a rare genetic condition characterised by elevated low-density lipoprotein-cholesterol (LDL-C), and premature, severe, accelerated atherosclerosis. Standard of care for HoFH includes lipid-lowering drugs and lipoprotein apheresis. We conducted a post-hoc analysis using data from a Phase 3 study to assess whether concomitant apheresis affected the lipid-lowering efficacy of lomitapide. Read More

    Dysbetalipoproteinemia: Two cases report and a diagnostic algorithm.
    World J Clin Cases 2015 Apr;3(4):371-6
    Anastazia Kei, Moses Elisaf, Department of Internal Medicine, University of Ioannina Medical School, 45110 Ioannina, Greece.
    Dysbetalipoproteinemia is a rare familial dyslipidemia characterized by approximately equally elevated serum cholesterol and triglyceride levels due to accumulated remnant lipoproteins in apolipoprotein E2/E2 homozygotes. It is associated with an increased risk for premature cardiovascular disease. Thus, making a diagnosis of dysbetalipoproteinemia aids in assessing cardiovascular risk correctly and allows for genetic counseling. Read More

    PCSK9 inhibitors.
    Swiss Med Wkly 2015 9;145:w14094. Epub 2015 Apr 9.
    Cardiology Division, Geneva University Hospitals, Switzerland.
    The discovery of proprotein convertase subtilisin kexin 9 (PCSK9) has considerably changed the therapeutic options in the field of lipid management. PCSK9 reduces LDL receptor recycling, leading to a decrease of low-density lipoprotein cholesterol (LDL-C) receptors on the surface of hepatocytes and a subsequent increase of circulating LDL-C levels. In observational studies, the loss-of-function mutations of PCSK9 have been associated with a reduction of LDL-C levels and cardiovascular disease (CVD) events. Read More

    Evolocumab (AMG 145) for primary hypercholesterolemia.
    Expert Rev Cardiovasc Ther 2015 May 31;13(5):477-88. Epub 2015 Mar 31.
    Lipid Clinic, Oslo University Hospital, Forskningsveien 2 B, N-0424 Oslo, Norway.
    Evolocumab is a fully human monoclonal IgG2 antibody that inhibits proprotein convertase subtilisin/kexin type 9, a protein that targets LDL receptors for degradation and thereby reduces the liver's ability to remove LDL-C from the blood. In Phase II and III trials in more than 6000 subjects with primary hypercholesterolemia, evolocumab reduced LDL-C by 50-75% compared with placebo and by 35-45% compared with ezetimibe. Evolocumab reduced the proatherogenic lipid profile, including Lp(a), and modestly increased HDL-C and ApoA1. Read More

    Vascular risk factors, vascular disease, lipids and lipid targets in patients with familial dysbetalipoproteinemia: a European cross-sectional study.
    Atherosclerosis 2015 May 27;240(1):90-7. Epub 2015 Feb 27.
    Department of Vascular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:
    Background: Familial dysbetalipoproteinemia (FD), also known as type III hyperlipoproteinemia, is a genetic dyslipidemia characterized by elevated very low density lipoprotein (VLDL) and chylomicron remnant particles that confers increased risk of cardiovascular disease (CVD). The objective of this study was to evaluate the prevalence of vascular risk factors, CVD, lipid values, treatment and lipid targets in patients with FD across Europe.

    Methods: This cross-sectional study was performed in 305 patients with FD from seven academic hospitals in four European countries. Read More

    Anacetrapib as lipid-modifying therapy in patients with heterozygous familial hypercholesterolaemia (REALIZE): a randomised, double-blind, placebo-controlled, phase 3 study.
    Lancet 2015 May 3;385(9983):2153-61. Epub 2015 Mar 3.
    Clinical Research, Merck & Co, Inc, Kenilworth, NJ, USA.
    Background: Present guidelines emphasise the importance of low concentrations of LDL cholesterol (LDL-C) in patients with familial hypercholesterolaemia. In most patients with the disease, however, these concentrations are not achieved with present treatments, so additional treatment is therefore warranted. Inhibition of cholesteryl ester transfer protein has been shown to reduce LDL-C concentrations in addition to regular statin treatment in patients with hypercholesterolaemia or at high risk of cardiovascular disease. Read More

    Chylomicronaemia--current diagnosis and future therapies.
    Nat Rev Endocrinol 2015 Jun 3;11(6):352-62. Epub 2015 Mar 3.
    Department of Medicine, Schulich School of Medicine and Dentistry, Western University, 4288A-1151 Richmond Street North, London, ON N6A 5B7, Canada.
    This Review discusses new developments in understanding the basis of chylomicronaemia--a challenging metabolic disorder for which there is an unmet clinical need. Chylomicronaemia presents in two distinct primary forms. The first form is very rare monogenic early-onset chylomicronaemia, which presents in childhood or adolescence and is often caused by homozygous mutations in the gene encoding lipoprotein lipase (LPL), its cofactors apolipoprotein C-II or apolipoprotein A-V, the LPL chaperone lipase maturation factor 1 or glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1. Read More

    Mipomersen, an antisense oligonucleotide to apolipoprotein B-100, reduces lipoprotein(a) in various populations with hypercholesterolemia: results of 4 phase III trials.
    Arterioscler Thromb Vasc Biol 2015 Mar 22;35(3):689-99. Epub 2015 Jan 22.
    From the Lipid Clinic Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil (R.D.S.); Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa (F.J.R.); Department of Pharmacological and Biomolecular Sciences, University of Milan, IRCCS Multimedica, Milan, Italy (A.L.C.); Lipid Ambulatory Clinic, Charite-Universitaetsmedizin Berlin, Berlin, Germany (E.S.-T.); and University of California San Diego, La Jolla (J.L.W., S.T.).
    Objective: Lp(a) is an independent, causal, genetic risk factor for cardiovascular disease and aortic stenosis. Current pharmacological lipid-lowering therapies do not optimally lower Lp(a), particularly in patients with familial hypercholesterolemia (FH).

    Approach And Results: In 4 phase III trials, 382 patients on maximally tolerated lipid-lowering therapy were randomized 2:1 to weekly subcutaneous mipomersen 200 mg (n=256) or placebo (n=126) for 26 weeks. Read More

    Targeting APOC3 in the familial chylomicronemia syndrome.
    N Engl J Med 2014 Dec;371(23):2200-6
    From the ECOGENE-21 Clinical Research Center, Chicoutimi Hospital, Chicoutimi, and the Department of Medicine, Université de Montréal, Montreal - both in Canada (D.G., D.B., K.T.); and Isis Pharmaceuticals, Carlsbad (V.J.A., W.S., S.G.H., R.S.G., B.F.B., M.J.G., R.M.C.), and the Department of Medicine, Division of Endocrinology-Metabolism, University California, San Diego, School of Medicine, La Jolla (J.L.W.) - both in California.
    The familial chylomicronemia syndrome is a genetic disorder characterized by severe hypertriglyceridemia and recurrent pancreatitis due to a deficiency in lipoprotein lipase (LPL). Currently, there are no effective therapies except for extreme restriction in the consumption of dietary fat. Apolipoprotein C-III (APOC3) is known to inhibit LPL, although there is also evidence that APOC3 increases the level of plasma triglycerides through an LPL-independent mechanism. Read More

    Systematic detection of familial hypercholesterolaemia in primary health care: a community based prospective study of three methods.
    Heart Lung Circ 2015 Mar 30;24(3):250-6. Epub 2014 Sep 30.
    School of Medicine & Pharmacology, University of Western Australia, Perth, Australia; Lipid Disorders Clinic, Cardiovascular Medicine, Royal Perth Hospital, Perth, Australia.
    Background: Familial hypercholesterolaemia (FH), a co-dominantly inherited disease of cholesterol that markedly increases risk of premature coronary artery disease (CAD), is significantly under-diagnosed. Primary health care is increasingly seen as a setting in which to increase the detection rate of index cases. We report a prospective study of three methods of case detection using pre-existing primary health care services in one community. Read More

    Effect of a low-fat diet enriched either with rapeseed oil or sunflower oil on plasma lipoproteins in children and adolescents with familial hypercholesterolaemia. Results of a pilot study.
    Eur J Clin Nutr 2015 Mar 26;69(3):337-43. Epub 2014 Nov 26.
    Division of Clinical Nutrition and Prevention, Department of Paediatrics and Adolescents Medicine, Vienna Medical University, Vienna, Austria.
    Background/objectives: There is convincing evidence that unsaturated fatty acids exert favourable effects on plasma cholesterol levels. However, it is not clear which type of oil has the most pronounced effect, especially not in paediatric patients. The aim was to compare two low-fat diet regimes enriched with either monounsaturated fatty acids by rapeseed oil (RO) or polyunsaturated fatty acids by sunflower oil (SO) in children affected with familial hypercholesterolaemia (FH). Read More

    Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
    Orphanet J Rare Dis 2014 Nov 26;9:179. Epub 2014 Nov 26.
    Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1277 Jiefang Avenue, Wuhan, 430022, China.
    Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. The CYP27A1 gene is located on chromosome 2q33-qter and contains nine exons. A CYP27A1 mutation leads to decreased synthesis of bile acid, excess production of cholestanol, and consequent accumulation of cholestanol in tissues. Read More

    Apolipoprotein E isoforms and lipoprotein metabolism.
    IUBMB Life 2014 Sep;66(9):616-23
    Division of Translational Medicine and Human Genetics, Perelman School of Medicine at the University of Pennsylvania, 11-130 Translational Research Center, Philadelphia, PA, USA.
    Apolipoprotein (apo) E is a 299-residue protein which functions as a key regulator of plasma lipid levels. Human apoE exists as three common isoforms and the parent form, apoE3, operates optimally in promoting clearance of triglyceride (TG)-rich lipoproteins and is associated with normal plasma lipid levels. This result occurs because apoE3 possesses both the requisite lipid-binding ability and affinity for the low density lipoprotein receptor (LDLR) to mediate appropriate lipolytic processing and endocytosis of TG-rich lipoprotein remnant particles. Read More

    Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial.
    Lancet 2015 Jan 1;385(9965):341-50. Epub 2014 Oct 1.
    Metabolic and Atherosclerosis Research Center, Cincinnati, OH, USA. Electronic address:
    Background: Homozygous familial hypercholesterolaemia is a rare, serious disorder caused by very low or absent plasma clearance of LDL, substantially raised LDL cholesterol, and accelerated development of cardiovascular disease. Conventional lipid-lowering treatments are modestly effective. Evolocumab, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 (PCSK9), reduced LDL cholesterol by 16% in a pilot study. Read More

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