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    A case of lipoprotein glomerulopathy with a rare apolipoprotein E isoform combined with neurofibromatosis type I.
    CEN Case Rep 2018 Jan 22. Epub 2018 Jan 22.
    Sanko Clinic, Fukuoka, Japan.
    Lipoprotein glomerulopathy (LPG) is a rare inherited disease characterized by histopathological features of lipoprotein thrombi in dilated glomerular capillaries and type III like hyperlipoproteinemia with heterozygous mutation of the apolipoprotein (apo) E gene. We herein present the case of a 50-year-old woman with LPG complicated by neurofibromatosis type 1 (NF1). To the best of our knowledge, this is the first report of a case of LPG complicated by NF1. Read More

    Roles of high apolipoprotein E blood levels and HDL in development of familial dysbetalipoproteinemia in ε2ε2 subjects.
    Clin Biochem 2018 Feb 20;52:67-72. Epub 2017 Nov 20.
    Department of Endocrinology, University of Groningen and 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

    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

    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

    Novel treatment options for the management of heterozygous familial hypercholesterolemia.
    Expert Rev Clin Pharmacol 2017 Dec 14;10(12):1375-1381. Epub 2017 Sep 14.
    a First Propedeutic Department of Internal Medicine, Medical School , Aristotle University of Thessaloniki, AHEPA Hospital , Thessaloniki , Greece.
    Introduction: Even though statins represent the mainstay of treatment of heterozygous familial hypercholesterolemia (FH), their low-density lipoprotein cholesterol (LDL-C) lowering efficacy is finite and most patients with FH will not achieve LDL-C targets with statin monotherapy. Addition of ezetimibe with or without bile acid sequestrants will also not lead to treatment goals in many of these patients, particularly in those with established cardiovascular disease. In this selected subgroup of the FH population, proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitors provide substantial reductions in LDL-C levels, reduce cardiovascular morbidity and appear to be safe. Read More

    Comparison of Lipoprotein Electrophoresis and Apolipoprotein E Genotyping in Investigating Dysbetalipoproteinemia.
    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

    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

    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

    [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

    Cost-effectiveness of a cascade screening program for the early detection of familial hypercholesterolemia.
    J Clin Lipidol 2017 Jan - Feb;11(1):260-271. Epub 2017 Jan 10.
    Fundación Hipercolesterolemia Familiar, Madrid, Spain.
    Background: Although familial hypercholesterolemia (FH) confers a high risk of coronary artery disease, most patients are undiagnosed, and little is known about the efficiency of genetic cascade screening programs at national level.

    Objective: The aim of the study was to estimate the cost-effectiveness of a national genetic cascade screening program in Spain.

    Methods: An economic evaluation was performed using a decision tree analysis. Read More

    Autosomal dominant familial dysbetalipoproteinemia: A pathophysiological framework and practical approach to diagnosis and therapy.
    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

    Remnant Cholesterol Elicits Arterial Wall Inflammation and a Multilevel Cellular Immune Response in Humans.
    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

    Association Between the Presence of Carotid Artery Plaque and Cardiovascular Events in Patients With Genetic Hypercholesterolemia.
    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

    Efficacy and Safety of Lomitapide in Japanese Patients with Homozygous Familial Hypercholesterolemia.
    J Atheroscler Thromb 2017 Apr 2;24(4):402-411. Epub 2017 Feb 2.
    National Cerebral and Cardiovascular Research Center.
    Aim: There is an unmet need in Japan for more optimal lipid-lowering therapy (LLT) for patients with homozygous familial hypercholesterolemia (HoFH) who respond inadequately to available drug therapies and/or apheresis, to achieve goals of low-density lipoprotein cholesterol (LDL-C) reduction by 50% or to <100 mg/dL.

    Methods: In this study, Japanese patients with HoFH on stable LLT and diet were treated with lomitapide, initiated at 5 mg/day and escalated to maximum tolerated dose (up to 60 mg/day) over 14 weeks. The primary efficacy endpoint was mean percentage change from baseline to Week 26 in LDL-C. 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 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

    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

    Value of the Definition of Severe Familial Hypercholesterolemia for Stratification of Heterozygous Patients.
    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

    Lipid phenotype and heritage pattern in families with genetic hypercholesterolemia not related to LDLR, APOB, PCSK9, or APOE.
    J Clin Lipidol 2016 Nov - Dec;10(6):1397-1405.e2. Epub 2016 Sep 22.
    Departamento de Anatomía, Embriología y Genetica Animal, Universidad de Zaragoza, Zaragoza, Spain.
    Background: A substantial proportion of individuals clinically diagnosed as familial hypercholesterolemia (FH) do not carry pathogenic mutations in candidate genes. Whether in them the high cholesterol trait is transmitted monogenically has not been studied.

    Objectives: We assessed the inheritance pattern, penetrance, and expression of high low-density lipoprotein (LDL)-cholesterol (LDLc) in families with genetic hypercholesterolemia (GH) without known causative mutations (non-FH-GH). Read More

    L-Carnitine/Simvastatin Reduces Lipoprotein (a) Levels Compared with Simvastatin Monotherapy: A Randomized Double-Blind Placebo-Controlled Study.
    Lipids 2017 01 2;52(1):1-9. Epub 2016 Dec 2.
    Department of Internal Medicine, Medical School, University of Ioannina, 45110, Ioannina, Greece.
    Lipoprotein (a) [Lp(a)] is an independent risk factor for cardiovascular disease. There are currently limited therapeutic options to lower Lp(a) levels. L-Carnitine has been reported to reduce Lp(a) levels. 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

    Challenges in Oral Lipid-lowering Therapy: Position Document of the Spanish Society of Cardiology.
    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

    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

    Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.
    Atherosclerosis 2016 Oct 26;253:88-93. Epub 2016 Aug 26.
    Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; The Berlin Aging Study II, Research Group on Geriatrics, Charité-Universitätsmedizin Berlin, Reinickendorfer Str. 61, Berlin, Germany. Electronic address:
    Background And Aims: Autosomal-dominant familial hypercholesterolemia (FH) is characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and a dramatically increased risk to develop cardiovascular disease (CVD). Mutations in three major genes have been associated with FH: the LDL receptor gene (LDLR), the apolipoprotein B gene (APOB), and the proprotein convertase subtilisin/kexin 9 gene (PCSK9). Here we investigated the frequency and the spectrum of FH causing mutations in Germany. Read More

    PCSK9 and lipoprotein (a) levels are two predictors of coronary artery calcification in asymptomatic patients with familial hypercholesterolemia.
    Atherosclerosis 2016 Nov 27;254:249-253. Epub 2016 Aug 27.
    Inra UMR 1280, Université de Nantes, Faculté de Médecine, Nantes, France; Inserm UMR 1188, Sainte Clotilde, France; Université de la Réunion, Faculté de Médecine, Saint-Denis, France; CHU de la Réunion, Saint-Denis, France. Electronic address:
    Background And Aims: We aimed to assess whether elevated PCSK9 and lipoprotein (a) [Lp(a)] levels associate with coronary artery calcification (CAC), a good marker of atherosclerosis burden, in asymptomatic familial hypercholesterolemia.

    Methods: We selected 161 molecularly defined FH patients treated with stable doses of statins for more than a year. CAC was measured using the Agatston method and quantified as categorical variable. Read More

    Possible involvement of PCSK9 overproduction in hyperlipoproteinemia associated with hepatocellular carcinoma: A case report.
    J Clin Lipidol 2016 Jul-Aug;10(4):1045-1049. 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

    Rare genetic variants with large effect on triglycerides in subjects with a clinical diagnosis of familial vs nonfamilial hypertriglyceridemia.
    J Clin Lipidol 2016 Jul-Aug;10(4):790-797. Epub 2016 Feb 23.
    Dpto. Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain.
    Background: Most primary severe hypertriglyceridemias (HTGs) are diagnosed in adults, but their molecular foundations have not been completely elucidated.

    Objective: We aimed to identify rare dysfunctional mutations in genes encoding regulators of lipoprotein lipase (LPL) function in patients with familial and non-familial primary HTG.

    Methods: We sequenced promoters, exons, and exon-intron boundaries of LPL, APOA5, LMF1, and GPIHBP1 in 118 patients with severe primary HTG (triglycerides >500 mg/dL) and 53 normolipidemic controls. Read More

    Efficacy of alirocumab in high cardiovascular risk populations with or without heterozygous familial hypercholesterolemia: Pooled analysis of eight ODYSSEY Phase 3 clinical program trials.
    Int J Cardiol 2016 Nov 18;223:750-757. Epub 2016 Aug 18.
    Department of Endocrinology, l'Institut du Thorax, Nantes University Hospital, Nantes, France.
    Objectives: Despite maximally tolerated statin therapy, many patients with high cardiovascular risk, with or without heterozygous familial hypercholesterolemia may require additional low-density lipoprotein cholesterol (LDL-C) reduction. We report pooled alirocumab (ALI) efficacy and safety data from eight Phase 3 trials in 4629 hypercholesterolemia patients, receiving background statin therapy.

    Material And Methods: Studies were pooled by ALI dose and control: ALI 75/150mg every 2weeks (Q2W; dose increased to 150mg Q2W at Week 12 based on Week 8 LDL-C) versus ezetimibe (EZE; Pool 1) or placebo (PBO; Pool 2), and ALI 150mg Q2W versus PBO (Pool 3). Read More

    Therapeutic efficacy of PCSK9 monoclonal antibodies in statin-nonresponsive patients with hypercholesterolemia and dyslipidemia: A systematic review and meta-analysis.
    Int J Cardiol 2016 Nov 30;222:119-129. Epub 2016 Jul 30.
    Department of Cardiology, Xuzhou Hospital Affiliated East South University School of Medicine, Xuzhou Cardiovascular Disease Institute, 199 Jiefang Road, Xuzhou 221009, PR China.
    Background And Objective: Heterozygous familial hypercholesterolemia and dyslipidemia are the predominant causes for cardiovascular disease (CVD). Clinical guidelines for lowering CVD risk have advocated that low density lipoprotein-cholesterol (LDL-C) must be reduced. The primary choice of therapy for controlling lipidemia has been statins, which are not completely effective. 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

    Systematic review of published Phase 3 data on anti-PCSK9 monoclonal antibodies in patients with hypercholesterolaemia.
    Br J Clin Pharmacol 2016 Dec 4;82(6):1412-1443. Epub 2016 Oct 4.
    Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University Graz, Graz, Austria.
    Aims: Two anti-proprotein convertase subtilisin/kexin type 9 (PCSK9) monoclonal antibodies, alirocumab and evolocumab, have been approved for the treatment of hypercholesterolaemia in certain patients. We reviewed data from Phase 3 studies to evaluate the efficacy and safety of these antibodies.

    Methods: We systematically reviewed Phase 3 English-language studies in patients with hypercholesterolaemia, published between 1 January 2005 and 20 October 2015. 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

    [PCSK9 - "missing link" in familial hypercholesterolemia : New therapeutic options in hypercholesterolemia and coronary artery disease].
    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

    Alirocumab in patients with heterozygous familial hypercholesterolemia undergoing lipoprotein apheresis: Rationale and design of the ODYSSEY ESCAPE trial.
    J Clin Lipidol 2016 May-Jun;10(3):627-34. Epub 2016 Feb 18.
    Regeneron Pharmaceuticals, Inc., Tarrytown, NY, USA.
    Background: Many patients with heterozygous familial hypercholesterolemia (HeFH) fail to reach optimal low-density lipoprotein cholesterol (LDL-C) levels with available lipid-lowering medications, including statins, and require treatment using alternative methods such as lipoprotein apheresis.

    Objective: To evaluate the efficacy of alirocumab 150 mg every 2 weeks (Q2W) compared with placebo in reducing the frequency of lipoprotein apheresis treatments in patients with HeFH.

    Methods: ODYSSEY ESCAPE is a randomized, double-blind, placebo-controlled, parallel-group, 18-week, phase 3 study being conducted in the United States and Germany. Read More

    The Regulatory Role of Nuclear Factor Kappa B in the Heart of Hereditary Hypertriglyceridemic Rat.
    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

    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

    Phenotype diversity among patients with homozygous familial hypercholesterolemia: A cohort study.
    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

    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

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