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    12133 results match your criteria Hyperlipoproteinemia

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    Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.
    Chonnam Med J 2018 Jan 25;54(1):31-35. Epub 2018 Jan 25.
    Department of Preventive Medicine, Chonnam National University Medical School, Gwangju, Korea.
    We aimed to evaluate the prevalence of familial hypercholesterolaemia (FH) in a subject with hypercholesterolaemia from two population-based cohorts in South Korea. A total of 283 subjects with total cholesterol levels of 290 mg/dL (7.5 mmol/L) or higher were selected from the Namwon and Dong-gu Studies. Read More

    Type V hypertriglyceridemia in children, a therapeutic challenge in pediatrics: A case report and a review of the literature.
    Medicine (Baltimore) 2017 Dec;96(51):e8864
    Department of Pediatrics I, University of Medicine and Pharmacy Tirgu Mureş, Romania.
    Rationale: Hypertriglyceridemia is defined as a level of triglycerides above 150 mg/dL. The complex causes and classification of hypertriglyceridemia lead to difficulties in the diagnosis and management of this condition.

    Patient Concerns: We present the case of a 15 years and 6 months old female teenager, admitted in our clinic for the following complaints: severe abdominal pain predominantly in the lateral left quadrant, nausea, vomiting, and the lack of stools for 2 days. Read More

    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

    Prior Authorization Requirements for Proprotein Convertase Subtilisin/Kexin Type 9 Inhibitors Across US Private and Public Payers.
    Circ Cardiovasc Qual Outcomes 2018 Jan;11(1):e003939
    From the Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (Dr Doshi, J.T. Puckett, Dr Parmacek, and Dr Rader) and the Leonard Davis Institute of Health Economics, Philadelphia (Dr Doshi).
    Background: Proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9is) are an innovative treatment option for patients with familial hypercholesterolemia or clinical atherosclerotic cardiovascular disease who require further lowering of low-density lipoprotein cholesterol. However, the high costs of these agents have spurred payers to implement utilization management policies to ensure appropriate use. We examined prior authorization (PA) requirements for PCSK9is across private and public US payers. Read More

    Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia.
    Nutr Metab Cardiovasc Dis 2018 Feb 22;28(2):158-164. Epub 2017 Nov 22.
    Department of Molecular and Clinical Medicine, University of Gothenburg, Sweden. Electronic address:
    Background And Aims: Type I hyperlipoproteinemia, also known as familial chylomicronemia syndrome (FCS), is a rare autosomal recessive disorder caused by variants in LPL, APOC2, APOA5, LMF1 or GPIHBP1 genes. The aim of this study was to identify novel variants in the LPL gene causing lipoprotein lipase deficiency and to understand the molecular mechanisms.

    Methods And Results: A total of 3 individuals with severe hypertriglyceridemia and recurrent pancreatitis were selected from the Lipid Clinic at Sahlgrenska University Hospital and LPL was sequenced. Read More

    DYNAMIC RETINA VESSEL COLOR CHANGE DURING OCULAR COMPRESSION IN SEVERE LIPEMIA RETINALIS.
    Retin Cases Brief Rep 2017 Dec 27. Epub 2017 Dec 27.
    Austin Retina Associates, Austin, Texas.
    Purpose: The aim of this study was to describe dynamic color change in retinal vessels from white to coral pink due to externally applied ocular pressure in a 6-week-old infant with lipemia retinalis secondary to type 1b familial hyperlipoproteinemia.

    Methods: Fundus images and fluorescein angiogram were taken with RetCam3 camera. Color photographs of pooled blood were taken during phlebotomy. Read More

    Target achievement with maximal statin-based lipid-lowering therapy in Korean patients with familial hypercholesterolemia: A study supported by the Korean Society of Lipid and Atherosclerosis.
    Clin Cardiol 2017 Dec 14;40(12):1291-1296. Epub 2017 Dec 14.
    Division of Cardiology, Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
    Background: Data on treatment results of lipid-lowering therapy (LLT) in familial hypercholesterolemia (FH) are limited, particularly in Asian patients.

    Hypothesis: We sought to evaluate the target achievement rate and associated variables in Korean patients with FH after maximal statin-based LLT.

    Methods: We enrolled 146 patients with heterozygous FH, and 90 patients were finally analyzed. Read More

    PCSK9 Inhibitors Show Value for Patients and the US Health Care System.
    Value Health 2017 12 17;20(10):1270-1278. Epub 2017 Jun 17.
    Schaeffer Center for Health Policy and Economics, University of Southern California Price School and School of Pharmacy, Los Angeles, CA, USA.
    Background: Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors were approved by the US Food and Drug Administration (FDA) as cholesterol-lowering therapies for patients with familial hypercholesterolemia or atherosclerotic cardiovascular disease.

    Objectives: To estimate the long-term health and economic value of PCSK9 inhibitors for Americans (51 years and older).

    Methods: We conducted simulations using the Future Elderly Model, an established dynamic microsimulation model to project the lifetime outcomes for the US population aged 51 years and older. Read More

    A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family.
    PLoS One 2017 11;12(12):e0189316. Epub 2017 Dec 11.
    Department of Endocrinology, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, China.
    Familial hypercholesterolemia (FH) is an inherited disorder characterized by elevation of serum cholesterol bound to low-density lipoprotein. Mutations in LDLR are the major factors responsible for FH. In this study, we recruited a four-generation Chinese family with FH and identified the clinical features of hypercholesterolemia. Read More

    [Hyperlipoprotienemias and (not only) atherosclerosis: fragments from history and present].
    Cas Lek Cesk 2017 ;156(6):303-307
    The examples from the history, as well as the recent view, clearly demonstrate a great change in the perception of hyperlipoprotienemias and dyslipidemias (HLP and DLP) at the end of 20th and at the beginning of 21st century. Our aim is not a complex overview about HLP and DLP. We just want to describe the changing position and importance of these diseases in clinical medicine. Read More

    [Nephrotic syndrome and microhematuria in a patient with nutcracker syndrome: Report of a case and review of the literature].
    Internist (Berl) 2017 Nov 27. Epub 2017 Nov 27.
    Klinik für Gastroenterologie und Diabetologie, Vivantes Humboldt-Klinikum, Am Nordgraben 2, 13509, Berlin, Deutschland.
    We report about a 43-year-old woman with polyvalent drug addiction (i.e. alcohol, nicotine, methadone maintenance program with parallel consumption of heroin) who presented to the emergency department with peripheral edema, generalized weakness, and arthralgia. Read More

    Persistent High Non-High-Density Lipoprotein Cholesterol in Early Childhood: A Latent Class Growth Model Analysis.
    J Pediatr 2017 Dec;191:152-157
    Pediatrics Outcomes Research Team (PORT), The Hospital for Sick Children, Toronto, Ontario; Faculty of Medicine, University of Toronto, Toronto, Ontario; Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Ontario; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario; Division of Pediatric Medicine, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario. Electronic address:
    Objectives: To examine patterns of non-high-density lipoprotein (HDL) cholesterol in early childhood and identify factors associated with persistent high non-HDL cholesterol in healthy urban children.

    Study Design: We identified all children enrolled in a primary care practice-based research network called TARGet Kids! (The Applied Research Group for Kids) with ≥3 laboratory measurements of non-HDL cholesterol. Latent class growth model analysis was performed to identify distinct trajectory groups for non-HDL cholesterol. Read More

    Ezetimibe Use and LDL-C Goal Achievement: A Retrospective Database Analysis of Patients with Clinical Atherosclerotic Cardiovascular Disease or Probable Heterozygous Familial Hypercholesterolemia.
    J Manag Care Spec Pharm 2017 Dec 25;23(12):1270-1276. Epub 2017 Sep 25.
    2 Amgen, Thousand Oaks, California.
    Background: Ezetimibe is recommended by clinical practice guidelines as a second-line therapy for lowering low-density lipoprotein cholesterol (LDL-C) levels, but little is known about its use and effectiveness in real-world populations.

    Objective: To understand the real-world impact of adding or switching to ezetimibe on LDL-C goal achievement in patients with clinical atherosclerotic cardiovascular disease (ASCVD) and/or heterozygous familial hypercholesterolemia (HeFH).

    Methods: Patients aged ≥ 18 years with an LDL-C measurement available between January 1, 2013, and June 30, 2014, were identified using the Inovalon MOREdatabase; this included commercial, health insurance exchange, Medicare Advantage, and managed Medicaid patients. 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

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

    Most significant reduction of cardiovascular events in patients undergoing lipoproteinapheresis due to raised Lp(a) levels - A multicenter observational study.
    Atheroscler Suppl 2017 Nov 3;30:246-252. Epub 2017 Jun 3.
    Department of Internal Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany. Electronic address:
    Objectives: Lipoprotein(a) (Lp(a)) is an independent cardiovascular (CV) risk factor, predisposing to premature and progressive CV events. Lipoproteinapheresis (LA) is the only efficacious therapy for reducing Lp(a). Data comparing the clinical efficacy of LA with respect to reduction of CV events in subjects with elevated Lp(a) versus LDL-C versus both disorders is scarce. Read More

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

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

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

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

    Association of lipoprotein(a) level with short- and long-term outcomes after CABG: The role of lipoprotein apheresis.
    Atheroscler Suppl 2017 Nov 31;30:187-192. Epub 2017 May 31.
    Cardiology Research Center, 3rd Cherepkovskaya Street, 15a, 121552, Moscow, Russia. Electronic address:
    Objective: To evaluate the association of lipoprotein(a) [Lp(a)] level with short- and long-term outcomes after coronary artery bypass grafting (CABG) and to assess the effect of a 12 month course of weekly lipoprotein apheresis on vein graft patency and coronary atherosclerosis course in post-CABG patients with hyperlipidemia.

    Methods: This study was performed in patients after successful CABG and consisted of three parts: a) a retrospective part with computed tomography assessment of vein graft patency in patients with first-year recurrence of chest pain after CABG (n = 102); b) a prospective trial with evaluation of cardiovascular outcomes during follow up time up to 15 years in relation to baseline Lp(a) levels (n = 356); c) an 12-months interventional controlled study in 50 patients with low-density lipoprotein cholesterol (LDL-C) levels >2.6 mmol/L prior to the operation despite statin treatment that allocated into 2 groups: active (n = 25, weekly apheresis by cascade plasma filtration (CPF) plus atorvastatin), and control (n = 25, atorvastatin alone). Read More

    Rationale and design of MultiSELECt: A European Multicenter Study on the Effect of Lipoprotein(a) Elimination by lipoprotein apheresis on Cardiovascular outcomes.
    Atheroscler Suppl 2017 Nov 1;30:180-186. Epub 2017 Jun 1.
    Apherese Centrum Rostock (ACR), Nephrocare Rostock GmbH, Rostock, Germany.
    Background: Dyslipidemia is a well-known risk factor for atherosclerosis and subsequent cardiovascular disease (CVD). While low density lipoprotein cholesterol (LDL-C) is well-established and taken into consideration for risk management and therapy, lipoprotein(a) is another established CVD risk factor frequently not undergoing screening due to a lack of medical treatment options. For patients suffering from CVD due to massive elevation of Lp(a) in presence of normal LDL-C levels, lipoprotein apheresis is the only available treatment option. Read More

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

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

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

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

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

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

    Proprotein Convertase Subtilisin/Kexin Type 9 Inhibitor Therapy: Payer Approvals and Rejections, and Patient Characteristics for Successful Prescribing.
    Circulation 2017 Dec 30;136(23):2210-2219. Epub 2017 Oct 30.
    Leonard Davis Institute of Health Economics, University of Pennsylvania, Philadelphia (G.P.H.). Scientific Studies & Projects, Symphony Health, Conshohocken, PA (G.P.H., A.F.). Center for Genomic Medicine and Cardiovascular Research Center, Massachusetts General Hospital, Boston (P.N.). Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA (P.N.). Richard A. and Susan F. Smith Center for Outcomes Research in Cardiology, Beth Israel Deaconess Medical Center, Boston, MA (K.F.F., L.V., R.W.Y.).
    Background: Proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i) are a novel class of medications for patients with familial hypercholesterolemia or clinical atherosclerotic cardiovascular disease requiring additional lipid lowering beyond dietary measures and statin use. Because of the drugs' high cost, rates of prescription approval by payers may be low. We aimed to identify payer approval and rejection rates for PCSK9i prescriptions and the potential factors influencing these rates. Read More

    Relationship Between Total Serum Bilirubin Levels and Carotid and Femoral Atherosclerosis in Familial Dyslipidemia.
    Arterioscler Thromb Vasc Biol 2017 Dec 26;37(12):2356-2363. Epub 2017 Oct 26.
    From the Endocrinology and Nutrition Service, Institut d'Investigacions Biomèdiques August Pi Sunyer, Hospital Clínic, Barcelona, Spain (A.J.A., E.O., M.C., A.S.-V., E.R.); Centro de Investigación Biomédica en Red Fisiopatología de la Obesidad y Nutrición, Instituto de Salud Carlos III, Spain (A.J.A., E.O., M.C., A.S.-V., E.R.); Service of Endocrinology, Hospital Universitari Mútua de Terrassa, Spain (V.P.); and Vascular Unit, Centre de Diagnòstic per l'Imatge, Institut d'Investigacions Biomèdiques August Pi Sunyer, Hospital Clínic, Barcelona, Spain (I.N., R.G.).
    Objective: Bilirubin is a potent antioxidant that has been inversely related to cardiovascular disease. There is little information on serum total bilirubin (TB) in relation to atherosclerosis in familial dyslipidemia. We assessed the association between TB and carotid and femoral atherosclerosis in this high-risk group. Read More

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

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

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

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

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

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

    Assessments of Carotid Artery Plaque Burden in Patients With Familial Hypercholesterolemia.
    Am J Cardiol 2017 Dec 30;120(11):1955-1960. Epub 2017 Aug 30.
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine, Kanazawa, Japan.
    Although both carotid intima-media thickness (cIMT) and carotid plaque score (cPS) determined by carotid ultrasonography reflect the severity of coronary atherosclerosis, there are few reports on direct comparisons of their clinical utilities in patients with familial hypercholesterolemia (FH). We aimed (1) to compare the clinical utilities of these measurements and (2) to estimate the onset and progression of carotid atherosclerosis in patients with FH. We examined 225 patients with FH (126 males; mean age, 51 ± 18 years) who underwent carotid ultrasonography. Read More

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

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

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

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

    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

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

    Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil.
    Genet Mol Res 2017 Aug 31;16(3). Epub 2017 Aug 31.
    Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, , , Brasil
    Familial hypercholesterolemia (FH) is a dominant, autosomal disease characterized by high LDL levels in blood plasma, and is caused by a defect in the gene encoding the LDL receptor (LDLR). The clinical diagnosis is based on personal and familial history, physical examination findings, and measures of high LDL cholesterol concentrations. LDLR is a cell-surface glycoprotein that controls the level of blood plasma cholesterol and triglyceride by LDLR-mediated endocytosis. Read More

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

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

    Familial hypercholesterolemia in a European Mediterranean population-Prevalence and clinical data from 2.5 million primary care patients.
    J Clin Lipidol 2017 Jul - Aug;11(4):1013-1022. Epub 2017 Jun 3.
    Department of Medical Sciences, School of Medicine, Campus Salut, University of Girona, Girona, Spain; Institut Universitari d'Investigació en Atenció Primària Jordi Gol (IDIAP Jordi Gol), Catalunya, Spain; ISV Research Group, Research Unit in Primary Care, Girona, Catalan Institute of Health (ICS), Catalonia, Spain; Biomedical Research Institute, Girona (IdIBGi), ICS, Catalunya, Spain. Electronic address:
    Background: Familial hypercholesterolemia (FH), the most frequent hereditary cause of premature coronary heart disease (CHD), is underdiagnosed and insufficiently treated.

    Objectives: The objectives of the study were to estimate the prevalence of the FH phenotype (FH-P) and to describe its clinical characteristics in a Mediterranean population.

    Methods: Data were obtained from the Catalan primary care system's clinical records database (Catalan acronym: SIDIAP). Read More

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

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

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

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

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