J Coll Physicians Surg Pak 2017 Jun;27(6):378-379

Department of Clinical Pathology, Northampton General Hospital, Cliftonville, Northampton, UK.

Dysbetalipoproteinemia is often associated with apolipoprotein E2E2 homozygosity; however, lipoprotein electrophoresis may also be used to assist in the diagnosis. The aim of this study was to compare apolipoprotein E (apo E) genotyping and lipoprotein electrophoresis in investigating dysbetalipoproteinemia. Data were collected over a three-year period from a lipid clinic in a tertiary referral centre and reviewed for apo E genotyping and lipoprotein electrophoresis. Read More

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

J Clin Lipidol 2017 Apr 25. 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

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

Herz 2017 May 29. Epub 2017 May 29.

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

J Clin Lipidol 2017 Jan - Feb;11(1):12-23.e1. Epub 2016 Oct 13.

Department of Chemical Pathology, University of Cape Town Health Science Faculty, Cape Town, South Africa. Electronic address:

Familial dysbetalipoproteinemia (FD) is a genetic disorder of lipoprotein metabolism associated with an increased risk for premature cardiovascular disease. In about 10% of the cases, FD is caused by autosomal dominant mutations in the apolipoprotein E gene (APOE). This review article provides a pathophysiological framework for autosomal dominant FD (ADFD) and discusses diagnostic challenges and therapeutic options. Read More

Pediatr Blood Cancer 2017 Apr 1. Epub 2017 Apr 1.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Arterioscler Thromb Vasc Biol 2017 May 23;37(5):969-975. Epub 2017 Mar 23.

From the Departments of Vascular Medicine (S.J.B.M., S.L.V., L.C.A.S., M.B., S.B., E.S.G.S., J.K.), Experimental Vascular Medicine (J.G.S.), and Nuclear Medicine (H.J.V.), AMC, Amsterdam, The Netherlands; The Copenhagen General Population Study (A.L., B.G.N.) and Department of Clinical Biochemistry (A.L., B.G.N.), Herlev and Gentofte Hospital, Copenhagen University Hospital, Denmark; and Department of Hematopoiesis, Sanquin Research and Landsteiner Laboratory, University of Amsterdam, The Netherlands (C.K., C.V.).

Objective: Mendelian randomization studies revealed a causal role for remnant cholesterol in cardiovascular disease. Remnant particles accumulate in the arterial wall, potentially propagating local and systemic inflammation. We evaluated the impact of remnant cholesterol on arterial wall inflammation, circulating monocytes, and bone marrow in patients with familial dysbetalipoproteinemia (FD). Read More

Rev Esp Cardiol (Engl Ed) 2017 Jul 17;70(7):551-558. Epub 2017 Feb 17.

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

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

Vnitr Lek Fall 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

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

Am J Cardiol 2017 Mar 2;119(5):742-748. Epub 2016 Dec 2.

Unidad Clínica e Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, IIS Aragón, Universidad de Zaragoza, Zaragoza, Spain.

Familial hypercholesterolemia (FH) is characterized by high low-density lipoprotein (LDL) cholesterol with co-dominant transmission and high risk of cardiovascular disease (CVD), although with high variability among subjects. Currently, CVD stratification tools for heterozygous FH (HeFH) are not available. A definition of severe HeFH has been recently proposed by the International Atherosclerosis Society (IAS), but it has not been validated. Read More

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

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

Rev Esp Cardiol (Engl Ed) 2016 Nov 16;69(11):1083-1087. Epub 2016 Sep 16.

Servicio de Cardiología, Hospital Virgen de la Salud, Toledo, Spain.

Lipid-lowering therapy is one of the cornerstones of cardiovascular prevention and is one of the most effective strategies in the secondary prevention of ischemic heart disease. Nevertheless, the current treatment of lipid disorders, together with lifestyle changes, fails to achieve the targets recommended in clinical guidelines in a substantial proportion of patients. PCSK9 inhibitors have demonstrated safety and efficacy in the treatment of dyslipidemia. Read More

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

JAMA Dermatol 2016 Nov;152(11):1275-1276

Cholesterol, Metabolism, and Thrombosis Center, MMA-Jewish Hospital, Cincinnati, Ohio.

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

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

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

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

Herz 2016 Jun;41(4):281-9

Institut für Laboratoriumsmedizin, Klinische Chemie und Molekulare Diagnostik, Universitätsklinikum Leipzig, Paul-List-Straße 13/15, 04103, Leipzig, Deutschland.

Lowering plasma low-density lipoprotein cholesterol (LDL-C) levels to individual therapeutic goals is one of the most effective measures for the prevention of cardiovascular disease. Besides dietary measures, this can be achieved pharmaceutically by inhibition of hepatic cholesterol synthesis with statins or inhibition of intestinal cholesterol absorption (e.g. Read More

Oxid Med Cell Longev 2016 11;2016:9814038. Epub 2016 Apr 11.

Institute of Physiology, Academy of Sciences of the Czech Republic, 142 20 Prague 4, Czech Republic; Centre of Cardiovascular Research, 142 20 Prague 4, Czech Republic.

Activation of nuclear factor-κB (NF-κB) by increased production of reactive oxygen species (ROS) might induce transcription and expression of different antioxidant enzymes and also of nitric oxide synthase (NOS) isoforms. Thus, we aimed at studying the effect of NF-κB inhibition, caused by JSH-23 (4-methyl-N (1)-(3-phenyl-propyl)-benzene-1,2-diamine) injection, on ROS and NO generation in hereditary hypertriglyceridemic (HTG) rats. 12-week-old, male Wistar and HTG rats were treated with JSH-23 (bolus, 10 μmol, i. Read More

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

Atherosclerosis 2016 May 11;248:238-44. Epub 2016 Mar 11.

Medical Affairs, Sanofi Genzyme, 500 Kendall Street, Cambridge, MA 02142, USA. Electronic address:

Aims: Homozygous familial hypercholesterolaemia (HoFH) is a rare disorder usually caused by mutations in both alleles of the low-density lipoprotein receptor gene (LDLR). Premature death, often before the age of 20 years, was a common fate for patients with HoFH prior to the introduction of statins in 1990 and the use of lipoprotein apheresis. Consequently, HoFH has been widely considered a condition exclusive to a population comprising very young patients with extremely high LDL cholesterol (LDL-C) levels. Read More

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

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

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

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

Atherosclerosis 2016 Dec 4;255. Epub 2016 Dec 4.

Supraregional Assay Service for Cardiovascular Biomarkers, Department of Blood Sciences, Newcastle upon Tyne Hospitals NHS Foundation Trust, UK.

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

Int J Cardiol 2016 Jan 31;203:575. Epub 2015 Oct 31.

Fundación Hipercolesterolemia Familiar, Madrid, Spain.

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

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

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

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

Eur Heart J 2015 Nov 1;36(43):3004-6. Epub 2015 Sep 1.

Medizinische Klinik II, Klinikum der Universität München, München, Germany.

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

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

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

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

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

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

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

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

JAMA Neurol 2015 Apr;72(4):479

Cardiovascular Research Institute, University of California, San Francisco.

JAMA Neurol 2015 Apr;72(4):478

Department of Psychiatry, University of Texas Southwestern Medical Center at Dallas.

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