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    8378 results match your criteria Hypercholesterolemia Familial

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    Genetic analysis in a compound heterozygote family with familial hypercholesterolemia.
    Mol Med Rep 2018 Apr 20. Epub 2018 Apr 20.
    Department of Cardiology, Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, P.R. China.
    Homozygous familial hypercholesterolemia (FH) is rare, with an incidence of ~one in a million and commonly presents with a genetic mutation. The genetic variations of families with FH were clinically analyzed to investigate the association between the phenotype and genotype of patients. Direct sequencing was conducted for the proband and her parents to detect mutations in the fragment of 18 exons of the low‑density lipoprotein receptor (LDLR) and apolipoprotein B100 Q3500R in the peripheral blood genomic DNA. Read More

    A Small Change Can Make a Big Difference: A Lesson from Evolocumab.
    Heart Lung Circ 2018 Mar 20. Epub 2018 Mar 20.
    Monash Cardiovascular Research Centre, MonashHEART, Melbourne, Vic, Australia.
    Background: Evolocumab is an expensive proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor which has been shown to significantly improve cardiovascular outcomes in high risk patients.

    Methods: This is a case study describing a stepwise approach to "PCSK9 inhibitor non-response" in a patient with familial hypercholesterolaemia. There are a few described pathophysiological mechanisms for "PCSK9 inhibitor non-response" including homozygous LDL-C receptor-negative mutations and alteration in the binding site of PCSK9 inhibitors. Read More

    Cardiovascular event reduction with PCSK9 inhibition among 1578 patients with familial hypercholesterolemia: Results from the SPIRE randomized trials of bococizumab.
    J Clin Lipidol 2018 Apr 3. Epub 2018 Apr 3.
    CiVi Biopharma, Philadelphia, PA.
    Background: Familial hypercholesterolemia (FH) is a dominant genetic disorder associated with elevated low-density lipoprotein cholesterol (LDL-C) and premature atherosclerotic events. Although therapeutic monoclonal antibodies that inhibit proprotein convertase subtilisin-kexin type 9 (PCSK9) are indicated for LDL-C reduction among adult patients with FH, placebo-controlled outcome data among FH patients are scant.

    Objective: Directly compare the efficacy of PCSK9 inhibition as compared to placebo on hard cardiovascular outcomes in FH patients enrolled in the Studies of PCSK9 Inhibition and the Reduction of vascular Events (SPIRE) program. Read More

    Diet-Induced Abdominal Obesity, Metabolic Changes, and Atherosclerosis in Hypercholesterolemic Minipigs.
    J Diabetes Res 2018 25;2018:6823193. Epub 2018 Feb 25.
    Department of Clinical Medicine, Aarhus University and Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark.
    Background: Obesity and metabolic syndrome (MetS) are major risk factors for atherosclerotic diseases; however, a causal link remains elusive. Animal models resembling human MetS and its complications, while important, are scarce. We aimed at developing a porcine model of human MetS. Read More

    Severe dyslipidemia and concomitant risk factors in the middle-aged Lithuanian adults: a cross-sectional cohort study.
    Lipids Health Dis 2018 Apr 19;17(1):88. Epub 2018 Apr 19.
    Vilnius University, Faculty of Medicine, Vilnius, Lithuania.
    Background: Dyslipidemia is highly prevalent and is one of the major risk factors for cardiovascular disease in Lithuania. The purpose of this study was to determine the prevalence of severe dyslipidemia in Lithuanian middle aged primary prevention population and to investigate cardiovascular risk profile.

    Methods: The group of 83,376 people were examined in the Lithuanian High Cardiovascular Risk primary prevention program (LitHiR), during 2009-2015 years. Read More

    Association of change in total cholesterol level with mortality: A population-based study.
    PLoS One 2018 19;13(4):e0196030. Epub 2018 Apr 19.
    Department of Family Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
    Background: Hypercholesterolemia is a well-established risk factor for coronary heart disease, but the association between cholesterol level change and mortality is not fully understood. We aimed to investigate the association of 2 year (2002-2003 to 2004-2005) change in cholesterol with all-cause and cause-specific mortality in a population-based cohort study.

    Methods And Findings: The study population consisted of 269,391 participants aged more than 40 years who were free of myocardial infarction, stroke and cancer using the Korean National Health Insurance Service-National Health Screening Cohort. Read More

    Role of sEH R287Q in LDLR expression, LDL binding to LDLR and LDL internalization in BEL-7402 cells.
    Gene 2018 Apr 14. Epub 2018 Apr 14.
    Department of Atherosclerosis, Beijing Institute of Heart Lung and Blood Vessel Disease, Beijing Anzhen Hospital Affiliated with Capital Medical University, Beijing, China. Electronic address:
    Objectives: Familial hypercholesterolemia (FH) is an autosomal dominant disorder of cholesterol metabolism. Three recognized genes (LDLR, APOB and PCSK9) present in only 20-30% of patients with possible FH cases. Additional FH-causing genes need to be explored. Read More

    Plasma fatty acid levels and gene expression related to lipid metabolism in peripheral blood mononuclear cells: a cross-sectional study in healthy subjects.
    Genes Nutr 2018 10;13. Epub 2018 Apr 10.
    1Department of Nutrition, Institute for Basic Medical Sciences, University of Oslo, P.O. Box 1046, Blindern, 0317 Oslo, Norway.
    Background: Solid evidence indicates that intake of marine n-3 fatty acids lowers serum triglycerides and that replacing saturated fatty acids (SFA) with polyunsaturated fatty acids (PUFA) reduces plasma total cholesterol and LDL cholesterol. The molecular mechanisms underlying these health beneficial effects are however not completely elucidated. The aim of this study was therefore to investigate the expression of genes related to lipid metabolism in peripheral blood mononuclear cells (PBMC) depending on the plasma levels of n-6 and n-3 fatty acids and the SFA to PUFA ratio. Read More

    Progression of calcific aortic valve sclerosis in WHHLMI rabbits.
    Atherosclerosis 2018 Mar 26;273:8-14. Epub 2018 Mar 26.
    Institute for Experimental Animals and Division of Comparative Pathophysiology, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Japan. Electronic address:
    Background And Aims: Aortic valve stenosis (AS) is the most common valvular heart disease and can be life-threatening. The pathogenesis of aortic valve calcification remains largely unknown, primarily due to the lack of an adequate animal model. The high-cholesterol diet-induced AS model in rabbits is one of the established models, but it has the significant limitation of liver dysfunction leading to low survival rates. Read More

    [Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing].
    Zh Nevrol Psikhiatr Im S S Korsakova 2018 ;118(3):10-14
    'Genomed' Ltd, Moscow, Russia.
    Ataxias with oculomotor apraxia (AOA) belong to autosomal recessive ataxias. Their common feature is oculomotor apraxia: inability to coordinate eye movements not due to muscle weakness. Next-generation sequencing (NGS) gives unique opportunities of rare disorders diagnostics and discovering of new forms, including AOA. Read More

    Proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitor use in the management of resistant hypercholesterolemia induced by mitotane treatment for adrenocortical cancer.
    J Clin Lipidol 2018 Mar 13. Epub 2018 Mar 13.
    Department of Endocrinology, Ioannina University Hospital, Ioannina, Greece. Electronic address:
    We report the case of a patient with probable heterozygous familial hypercholesterolemia and mitotane-induced resistant hypercholesterolemia, despite combination therapy with rosuvastatin and ezetimibe. The patient was managed with the addition of evolocumab. Use of a proprotein convertase subtilisin-kexin type 9 inhibitor, should be considered in patients who develop mitotane-related hypercholesterolemia that cannot be managed with conventional lipid-lowering treatment. Read More

    The Pharmacologic Role and Clinical Utility of PCSK9 Inhibitors for the Treatment of Hypercholesterolemia.
    J Cardiovasc Pharmacol Ther 2018 Jan 1:1074248418769040. Epub 2018 Jan 1.
    1 UCONN and Hartford Hospital, University of Connecticut School of Pharmacy, Storrs.
    In addition to monoclonal antibodies against proprotein convertase subtilisin-kexin type 9 (PCSK9), vaccines against PCSK9 and smaller molecule inhibitors as well as RNA inhibitors of PCSK9 production have been created. The monoclonal antibodies against PCSK9 and the PCSK9 RNA inhibitors can reduce low-density lipoproteins (LDLs) by over 50%, non-high-density lipoprotein (HDL) cholesterol and triglycerides, and increasing HDL. Although effective in several homozygous familial hypercholesterolemia patient types, PCSK9 inhibitors does not work in all patient types. Read More

    Evolocumab and lipoprotein apheresis combination therapy may have synergic effects to reduce low-density lipoprotein cholesterol levels in heterozygous familial hypercholesterolemia: A case report.
    J Clin Apher 2018 Apr 11. Epub 2018 Apr 11.
    Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, University Hospital of Verona, Verona, Italy.
    A 49 years old woman (weight 68 kg, BMI 27.3 kg/m ) with heterozygous familial hypercholesterolemia (HeFH) and multiple statin intolerance with muscle aches and creatine kinase elevation, presented at the Outpatient Lipid Clinic of Verona University Hospital in May 2015. Hypercholesterolemia was firstly diagnosed during adolescence, followed in adulthood by a diagnosis of Cogan's syndrome, a rheumatologic disorder characterized by corneal and inner ear inflammation. Read More

    The Association between Smoking Status and Influenza Vaccination Coverage Rate in Korean Adults: Analysis of the 2010-2012 Korea National Health and Nutrition Examination Survey.
    Korean J Fam Med 2018 Mar 22;39(2):90-95. Epub 2018 Mar 22.
    Department of Family Medicine, Korea University College of Medicine, Seoul, Korea.
    Background: Globally, smoking is one of the biggest challenges in public health and is a known cause of several important diseases. Influenza is preventable via annual vaccination, which is the most effective and cost-beneficial method of prevention. However, subjects who smoke have some unhealthy behaviours such as alcohol, low physical activity, and low vaccination rate. Read More

    Remnant-like particles and coronary artery disease in familial hypercholesterolemia.
    Clin Chim Acta 2018 Apr 5;482:120-123. Epub 2018 Apr 5.
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine, Kanazawa, Japan.
    Background: Although remnant-like particle cholesterol (RLP-C) has been associated with coronary artery disease (CAD) in the general population, few data exist regarding this issue in patients with familial hypercholesterolemia (FH). The aim of our study was to investigate the association between RLP-C and the presence of CAD in patients with FH.

    Methods: We examined 282 patients with FH (144 males, mean age, 41 ± 17 years) whose RLP-C levels were measured. Read More

    Parent-child genetic testing for familial hypercholesterolaemia in an Australian context.
    J Paediatr Child Health 2018 Apr 6. Epub 2018 Apr 6.
    School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia.
    Aim: The aim of this study was to evaluate the clinical outcome of parent-child testing for familial hypercholesterolaemia (FH) employing genetic testing and the likely additional cost of treating each child.

    Methods: Parent-child testing for gene variants causative of FH was carried out according to Australian guidelines. The number of new cases detected, the low-density lipoprotein (LDL)-cholesterol that best predicted a mutation and the proportional reduction in LDL-cholesterol following statin treatment was evaluated. Read More

    Impact of age on excess risk of coronary heart disease in patients with familial hypercholesterolaemia.
    Heart 2018 Apr 5. Epub 2018 Apr 5.
    Department of Endocrinology, Morbid Obesity and Preventive Medicine, Oslo University Hospital, Lipid Clinic, Oslo, Norway.
    Objective: The primary objective was to study the risk of acute myocardial infarction (AMI) and coronary heart disease (CHD) in patients with familial hypercholesterolaemia (FH) and compare with the risk in the general population.

    Methods: Patients with an FH mutation but without prior AMI (n=3071) and without prior CHD (n=2795) were included in the study sample during 2001-2009. We obtained data on all AMI and CHD hospitalisations in Norway. Read More

    Primary results of abdominal aortic aneurysm screening in the at-risk residents in middle China.
    BMC Cardiovasc Disord 2018 Apr 3;18(1):60. Epub 2018 Apr 3.
    Department of Vascular and Endovascular Surgery, Henan Provincial People's Hospital, Fuwai Central China Cardiovascular Hospital, NO.7 Weiwu Road, Zhengzhou, 450003, Henan, People's Republic of China.
    Background: There is a lack of information on the epidemiological data and risk factors associated with abdominal aortic aneurysm (AAA) in Chinese population. We reported the primary results from screening five-community population in Middle China for AAA.

    Methods: From March 2014 to October 2015, an AAA screening program was performed in three urban and two rural communities. Read More

    Pathological significance of lipoprotein(a) in aortic valve stenosis.
    Atherosclerosis 2018 May 15;272:168-174. Epub 2018 Mar 15.
    Divisions of Cardiology and Cardiac Surgery, McGill University Health Centre, 1001 Boulevard Décarie, Montreal, Quebec, H4A 3J1, Canada. Electronic address:
    Background And Aims: Aortic valve stenosis (AVS) affects a significant percentage of our elderly population and younger subjects with familial hypercholesterolemia. Lipoprotein(a) [Lp(a)] has been associated with AVS in recent genetic studies. The purpose of this study was to determine the effects of Lp(a) on human aortic valve interstitial cells (HAVICs), and to identify apolipoproteins and phospholipids in diseased human aortic valves. Read More

    Sex differences in cholesterol levels from birth to 19 years of age may lead to increased cholesterol burden in females with FH.
    J Clin Lipidol 2018 Mar 9. Epub 2018 Mar 9.
    Norwegian National Advisory Unit on Familial Hypercholesterolemia, Oslo University Hospital, Oslo, Norway.
    Background: The increased risk of cardiovascular disease in familial hypercholesterolemia (FH) is caused by increased cholesterol burden from birth. Even small elevation in cholesterol level accumulates over time and aggravates atherosclerosis.

    Objectives: The aim of the present study was to describe the lipid profile across sex and age in a large cohort of untreated children and adolescents with FH, as this have not clearly been described. Read More

    Number of Patients Eligible for PCSK9 Inhibitors Based on Real-world Data From 2.5 Million Patients.
    Rev Esp Cardiol (Engl Ed) 2018 Mar 29. Epub 2018 Mar 29.
    Laboratorio de Medicina Traslacional, Departamento de Ciencias Médicas, Facultad de Medicina, Universidad de Girona, Girona, Spain; Grup Investigació en Salut Cardiovascular de Girona (ISV-Girona), Institut Universitari d'Investigació en Atenció Primària Jordi Gol (IDIAP Jordi Gol), Girona, Spain; Institut d'Investigació Biomèdica de Girona (IdIBGi), Institut Català de la Salut (ICS), Girona, Spain. Electronic address:
    Introduction And Objectives: PCSK9 inhibitors (PCSK9i) are safe and effective lipid-lowering drugs. Their main limitation is their high cost. The aim of this study was to estimate the number of patients eligible for treatment with PCSK9i according to distinct published criteria. Read More

    Lipoprotein(a) level associates with coronary artery disease rather than carotid lesions in patients with familial hypercholesterolemia.
    J Clin Lab Anal 2018 Mar 30:e22442. Epub 2018 Mar 30.
    Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
    Background: Lipoprotein(a) [Lp(a)] level is a novel risk factor for atherosclerotic cardiovascular disease in patients with familial hypercholesterolemia (FH), while its impact on the different sites of arteries remains undetermined. We aim to examine the associations of Lp(a) levels with coronary and carotid atherosclerosis in patients with heterozygous FH (HeFH).

    Methods: A total of 148 patients with HeFH who have received carotid ultrasonography and coronary angiography due to chest pain were enrolled. Read More

    Lipid and lipoprotein parameters for detection of familial hypercholesterolemia in childhood. The DECOPIN Project.
    Clin Investig Arterioscler 2018 Mar 27. Epub 2018 Mar 27.
    Unitat de Medicina Vascular i Metabolisme, Hospital Universitari Sant Joan, Unitat d'Investigació en Lípids i Arteriosclerosi, Universitat Rovira i Virgili, Institut d'Investigació Sanitària Pere Virgili (IISPV), Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas (CIBERDEM), Reus, Tarragona, España.
    Background: Familial hypercholesterolaemia (FH) in children is under-detected and is difficult to diagnose in clinical practice. The aim of this study was to evaluate clinical, biochemical and vascular imaging variables in order to detect children and adolescents with FH.

    Methods: A total of 222 children aged 4-18 years old were recruited to participate in a project for the early detection of FH (The DECOPIN Project). Read More

    Effects of fish and krill oil on gene expression in peripheral blood mononuclear cells and circulating markers of inflammation: a randomised controlled trial.
    J Nutr Sci 2018 21;7:e10. Epub 2018 Mar 21.
    Department of Nutrition, Institute for Basic Medical Sciences, University of Oslo, PO Box 1046, Blindern, 0317 Oslo, Norway.
    Marine -3 (omega-3) fatty acids alter gene expression by regulating the activity of transcription factors. Krill oil is a source of marine -3 fatty acids that has been shown to modulate gene expression in animal studies; however, the effect in humans is not known. Hence, we aimed to compare the effect of intake of krill oil, lean and fatty fish with a similar content of -3 fatty acids, and high-oleic sunflower oil (HOSO) with added astaxanthin on the expression of genes involved in glucose and lipid metabolism and inflammation in peripheral blood mononuclear cells (PBMC) as well as circulating inflammatory markers. Read More

    The association between high-density lipoproteins and estimated glomerular filtration rate in patients without severe kidney disease.
    Int Urol Nephrol 2018 Mar 28. Epub 2018 Mar 28.
    Clinic for Internal Medicine, University Hospital Split, Spinciceva 1, 21 000, Split, Croatia.
    Purpose: Several studies investigated the association between the estimated glomerular filtration rate (eGFR) and the concentration of high-density lipoproteins (HDL) in patients without severely damaged kidney function. As results of those studies were inconclusive and contradictory, we wanted to investigate this association in multiple cardiovascular disease (CVD) risk patients without severe kidney disease or renal failure.

    Methods: We enrolled a cohort of 187 patients with intermediate and high CVD risk without severe renal disease. Read More

    Relationship of Familial Hypercholesterolemia and High LDL Cholesterol to Ischemic Stroke: The Copenhagen General Population Study.
    Circulation 2018 Mar 28. Epub 2018 Mar 28.
    Department of Clinical Biochemistry; The Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; The Copenhagen City Heart Study, Frederiksberg Hospital, Copenhagen University Hospital, Copenhagen, Denmark
    -Familial hypercholesterolemia(FH) is a condition with very high concentrations of low-density lipoprotein(LDL) cholesterol and high risk of ischemic heart disease including myocardial infarction. However, there is limited and contradictory information on whether FH and high LDL cholesterol confer high risk of ischemic stroke. We tested the hypotheses that individuals in the general population with FH and/or high LDL cholesterol have higher risk of ischemic stroke. Read More

    Health literacy in familial hypercholesterolemia: A cross-national study.
    Eur J Prev Cardiol 2018 Jan 1:2047487318766954. Epub 2018 Jan 1.
    9 School of Medicine, University of Western Australia, Australia.
    Background High rates of inadequate health literacy are associated with maladaptive health outcomes in chronic disease including increased mortality and morbidity rates, poor treatment adherence and poor health. Adequate health literacy may be an important factor in the effective treatment and management of familial hypercholesterolemia, and may also be implicated in genetic screening for familial hypercholesterolemia among index cases. The present study examined the prevalence and predictors of health literacy in familial hypercholesterolemia patients attending clinics in seven countries. Read More

    Prevalence and Predictors of Cholesterol Screening, Awareness, and Statin Treatment Among US Adults With Familial Hypercholesterolemia or Other Forms of Severe Dyslipidemia (1999-2014).
    Circulation 2018 Mar 26. Epub 2018 Mar 26.
    Harvard Medical School, Boston, MA & Department of Cardiology, Boston Children's Hospital, Boston, MA.
    -Familial hypercholesterolemia (FH) and other extreme elevations in low-density lipoprotein cholesterol significantly increase the risk of atherosclerotic cardiovascular disease; however, recent data suggest that prescription rates for statins remain low in these patients. National rates of screening, awareness, and treatment with statins among individuals with FH or severe dyslipidemia are unknown. -Data from the 1999 to 2014 National Health and Nutrition Examination Survey were used to estimate prevalence rates of self-reported screening, awareness, and statin therapy among US adults (n=42 471 weighted to represent 212 million US adults) with FH (defined using the Dutch Lipid Clinic criteria) and with severe dyslipidemia (defined as lowdensity lipoprotein cholesterol levels ≥190 mg/dL). Read More

    Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia.
    J Clin Lipidol 2018 Mar 1. Epub 2018 Mar 1.
    División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México; Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México. Electronic address:
    Background: Familial hypercholesterolemia (FH) is an autosomal dominant disorder that causes accumulation of serum low-density lipoprotein cholesterol and premature cardiovascular disease. It is mainly related to mutations in the LDLR gene. Homozygous FH (HoFH) patients have the most severe form of the disease accounting for a worldwide prevalence of 1:1,000,000. Read More

    Genetic diagnosis of familial hypercholesterolemia is associated with a premature and high coronary heart disease risk.
    Clin Cardiol 2018 Mar 25;41(3):385-391. Epub 2018 Mar 25.
    Department of Epidemiology, Health Economics and Public Health, UMR 1027 INSERM-Université Toulouse 3, Toulouse, France.
    Background: Familial hypercholesterolemia (FH) is a common autosomal dominant disease associated with premature coronary heart disease (CHD). Studies tend to show that patients with FH associated with an identified mutation (mutation+ FH) are at higher risk than patients without an identified mutation (mutation- FH). We compared the clinical and biological profile and the risk of CHD in patients with mutation+ FH and mutation- FH. Read More

    Prevalence, management, and outcomes of familial hypercholesterolemia in patients with acute coronary syndromes in the Arabian Gulf.
    J Clin Lipidol 2018 Feb 14. Epub 2018 Feb 14.
    Department of Medicine, Faculty of Medicine, Kuwait University, Kuwait city, Kuwait.
    Background: Information on the epidemiology of familial hypercholesterolemia (FH) in the Arabian Gulf region, which has an elevated rate of consanguinity and type II diabetes, is scarce.

    Objectives: To assess the prevalence of FH, its management, and impact on atherosclerotic cardiovascular disease (ASCVD) outcomes in a multicenter cohort of Arabian Gulf patients with acute coronary syndrome (ACS).

    Methods: Patients (N = 3224) hospitalized with ACS were studied. Read More

    Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.
    Clin Genet 2018 Mar 23. Epub 2018 Mar 23.
    Service de Biochimie et Biologie moléculaire Grand Est, GHE, Hospices Civils de Lyon, Bron, France.
    Optimal molecular diagnosis of primary dyslipidemia is challenging to confirm the diagnosis, test and identify at risk relatives. The aim of this study was to test the application of a single targeted next-generation sequencing (NGS) panel for hypercholesterolemia, hypocholesterolemia, and hypertriglyceridemia molecular diagnosis. NGS workflow based on a custom AmpliSeq panel was designed for sequencing the most prevalent dyslipidemia-causing genes (ANGPTL3, APOA5, APOC2, APOB, GPIHBP1, LDLR, LMF1, LPL, PCSK9) on the Ion PGM Sequencer. Read More

    Ossabaw Pigs With a PCSK9 Gain-of-Function Mutation Develop Accelerated Coronary Atherosclerotic Lesions: A Novel Model for Preclinical Studies.
    J Am Heart Assoc 2018 Mar 23;7(6). Epub 2018 Mar 23.
    Recombinetics, Inc, St Paul, MN
    Background: Ossabaw pigs are unique miniature swine with genetic predisposition to develop metabolic syndrome and coronary atherosclerosis after extended periods receiving atherogenic diets. We have hypothesized that transgenic Ossabaw swine expressing chimp (proprotein convertase subtilisin-like/kexin type 9) containing the D374Y gain of function would develop familial hypercholesterolemia and coronary artery plaques more rapidly than Landrace swine with the same transgene.

    Methods And Results: Ossabaw and Landrace gain-of-function founders were generated by transposition and cloning. Read More

    Two Cases of Surgical Management of Supravalvular Aortic Stenosis in Familial Hypercholesterolemia.
    Ann Thorac Surg 2018 Apr;105(4):e171-e174
    Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.
    Homozygous familial hypercholesterolemia is a rare autosomal dominant disorder caused by gene mutations of the low-density lipoprotein receptor, generally characterized by three major signs-hyper low-density lipoprotein cholesterolemia, tendon/skin xanthomas, and premature atherosclerosis disease-beginning in childhood and including supravalvular aortic stenosis. To the best of our knowledge, only a few successful surgical cases for supravalvular aortic stenosis in these patients have been reported. We report two cases of homozygous familial hypercholesterolemia with severe supravalvular aortic stenosis and coronary artery disease associated with very small aortic root, managed by aortic root replacement concomitant with coronary artery bypass graft surgery, which resulted in excellent postoperative outcomes. Read More

    Lipid Target in Very High-Risk Cardiovascular Patients: Lesson from PCSK9 Monoclonal Antibodies.
    Diseases 2018 Mar 17;6(1). Epub 2018 Mar 17.
    Department of Cardio-Thoracic and Respiratory Sciences, Section of Cardiology, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
    The role of low-density lipoproteins (LDLs) as a major risk factor for cardiovascular disease has been demonstrated by several epidemiological studies. The molecular basis for LDLs in atherosclerotic plaque formation and progression is not completely unraveled yet. Pharmacological modulation of plasma LDL-C concentrations and randomized clinical trials addressing the impact of lipid-lowering interventions on cardiovascular outcome have clearly shown that reducing plasma LDL-C concentrations results in a significant decrease in major cardiovascular events. Read More

    Clinical, Anthropometric and Biochemical Characteristics of Patients with or without Genetically Confirmed Familial Hypercholesterolemia.
    Arq Bras Cardiol 2018 Feb;110(2):119-123
    Instituto Nacional de Cardiologia, Rio de Janeiro, RJ - Brazil.
    Background: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder, characterized by a high level of low-density lipoprotein cholesterol (LDL-C) and a high risk of premature cardiovascular disease.

    Objective: To evaluate clinical and anthropometric characteristics of patients with the familiar hypercholesterolemia (FH) phenotype, with or without genetic confirmation of FH.

    Methods: Forty-five patients with LDL-C > 190 mg/dl were genotyped for six FH-related genes: LDLR, APOB, PCSK9, LDLRAP1, LIPA and APOE. Read More

    Proprotein convertase subtilisin/kexin type 9: from genetics to clinical trials.
    Curr Opin Cardiol 2018 May;33(3):269-275
    Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands.
    Purpose Of Review: This review describes the pivotal role of genetic insights and technologies in the discovery of proprotein convertase subtilisin/kexin type 9 (PCSK9) and the rapid development of PCSK9 inhibitors - a revolutionary new class of lipid-lowering agents.

    Recent Findings: PCSK9 was discovered as a the third gene implicated in familial hypercholesterolemia. Population genetics studies, enabled by technological advances, were instrumental in validating PCSK9 as a therapeutic target. Read More

    Fibroblast growth factor-23 in patients with homozygous familial hypercholesterolemia.
    J Clin Lipidol 2018 Feb 16. Epub 2018 Feb 16.
    Department of Medicine, Faculty of Health Sciences, University of the Witwatersrand, Parktown, South Africa; Carbohydrate & Lipid Metabolism Research Unit, Department of Medicine, Faculty of Health Sciences, University of the Witwatersrand, Parktown, South Africa.
    Background: Patients with homozygous familial hypercholesterolemia (HoFH) develop significant vascular calcification early in life, the cause of which is not yet fully understood. Patients with chronic kidney disease have similar vascular calcification, with fibroblast growth factor-23 (FGF23) implicated in these patients.

    Objective: To determine whether there was a difference in FGF23 between patients with HoFH and age- and gender-matched controls and whether there is a correlation between FGF23 and serum low-density lipoprotein, total cholesterol, and carotid intima-media thickness in patients with HoFH. Read More

    Prescribing Patterns of Proprotein Convertase Subtilisin-Kexin Type 9 Inhibitors in Eligible Patients With Clinical Atherosclerotic Cardiovascular Disease or Heterozygous Familial Hypercholesterolemia.
    Am J Cardiol 2018 Feb 12. Epub 2018 Feb 12.
    Regeneron Pharmaceuticals, Inc., Tarrytown, New York.
    Two proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitors are approved for patients with atherosclerotic cardiovascular disease or heterozygous familial hypercholesterolemia who require additional low-density lipoprotein cholesterol (LDL-C) lowering. This retrospective study sought to determine differences between eligible patients who were prescribed and those who were not prescribed a PCSK9 inhibitor. Patients from an electronic medical record database were included in the analysis, and their demographic, clinical, and treatment characteristics were evaluated. Read More

    COMMD Family Regulates Plasma LDL Levels and Attenuates Atherosclerosis Through Stabilizing the CCC Complex in Endosomal LDLR Trafficking.
    Circ Res 2018 Mar 15. Epub 2018 Mar 15.
    Pediatrics, University of Groningen, University Medical Center Groningen
    pper etabolism URR1 Domain-containing (COMMD) proteins are a part of the COMMD-CCDC22-CCDC93 (CCC) complexes facilitating endosomal trafficking of cell surface receptors. Hepatic COMMD1 inactivation decreases CCDC22 and CCDC93 protein levels, impairs the recycling of the low-density lipoprotein receptor (LDLR), and increases plasma LDL cholesterol levels in mice. However, whether any of the other COMMD members function similarly as COMMD1, and whether perturbation in the CCC complex promotes atherogenesis remain unclear. Read More

    New medications targeting triglyceride-rich lipoproteins: Can inhibition of ANGPTL3 or apoC-III reduce the residual cardiovascular risk?
    Atherosclerosis 2018 May 8;272:27-32. Epub 2018 Mar 8.
    Minerva Foundation Institute for Medical Research, Biomedicum 2U, FI-00290 Helsinki, Finland.
    Remarkably good results have been achieved in the treatment of atherosclerotic cardiovascular diseases (CVD) by using statin, ezetimibe, antihypertensive, antithrombotic, and PCSK9 inhibitor therapies and their proper combinations. However, despite this success, the remaining CVD risk is still high. To target this residual risk and to treat patients who are statin-intolerant or have an exceptionally high CVD risk for instance due to familial hypercholesterolemia (FH), new therapies are intensively sought. Read More

    A Rare Missense Mutation and a Polymorphism with High Frequency in Gene among Iranian Patients with Familial Hypercholesterolemia.
    Adv Biomed Res 2018 21;7:37. Epub 2018 Feb 21.
    Department of Genetics, Faculty of Medicine, Yazd, Iran.
    Background: Familial hypercholesterolemia (FH) is a disorder that is inherited by autosomal dominant pattern. The main cause of FH disease is the occurrence of mutations in low-density lipoprotein receptor (LDLR) gene sequence, as well as apolipoprotein B and proprotein convertase subtilisin/kexin type 9 genes, located in the next ranks, respectively.

    Materials And Methods: Forty-five unrelated Iranian patients with FH were screened using a high-resolution melting (HRM) method for exon 9 along with intron/exon boundaries of gene. Read More

    Alirocumab in high-risk patients: Observations from the open-label expanded use program.
    J Clin Lipidol 2018 Feb 7. Epub 2018 Feb 7.
    Sanofi, Bridgewater, NJ, USA.
    Background: The alirocumab expanded use program provided open-label access to alirocumab before its commercial availability to patients with severe hypercholesterolemia not controlled with maximally tolerated doses of standard-of-care lipid-lowering therapy.

    Objective: To describe the safety and lipid-lowering efficacy of alirocumab in high-risk patients who were likely to be early users of proprotein convertase subtilisin/kexin type 9 inhibitors after approval.

    Methods: Patients with heterozygous familial hypercholesterolemia (HeFH) and/or coronary heart disease (CHD) and baseline low-density lipoprotein cholesterol (LDL-C) of ≥160 mg/dL on maximally tolerated lipid-lowering therapy were enrolled and received alirocumab 150 mg every 2 weeks for 24 weeks. Read More

    Lipoprotein-associated phospholipase A₂ activity is increased in patients with definite familial hypercholesterolemia compared with other forms of hypercholesterolemia.
    Nutr Metab Cardiovasc Dis 2018 Feb 2. Epub 2018 Feb 2.
    Department of Endocrinology and Cardiovascular Disease Prevention, La Pitié-Salpêtrière-Charles Foix University Hospital (AP-HP), 48-83 boulevard de l'Hôpital, 75651 Paris Cedex 13, France; Dyslipoproteinemia and Atherosclerosis Research Unit, UMRS 939, National Institute for Health and Medical Research (INSERM) and Pierre et Marie Curie University (UPMC - Paris VI), 48-83 boulevard de l'Hôpital, 75651 Paris Cedex 13, France.
    Background And Aim: Lipoprotein-associated phospholipase A (Lp-PLA) plays a key role in atherosclerosis development. It is considered a marker of increased risk of cardiovascular disease (CVD) and plaque vulnerability. Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated plasma levels of low-density lipoprotein cholesterol and a higher prevalence of early CVD. Read More

    Cascade screening program for familial hypercholesterolemia.
    Endocrinol Diabetes Nutr 2018 Mar 6. Epub 2018 Mar 6.
    Fundación Hipercolesterolemia Familiar, Madrid, España.
    Introduction And Objective: Early detection of heterozygous familial hypercholesterolemia (HFH) is needed to prevent premature cardiovascular events. Our aim isto describe the course of an HFH screening detection day in the Northern Cadiz Health Area in Spain and to analyze the data recorded.

    Subjects And Methods: Descriptive study of an FH cascade screening program. Read More

    PCSK9 inhibitor valuation: A science-based review of the two recent models.
    Clin Cardiol 2018 Mar 7. Epub 2018 Mar 7.
    Cardiovascular Division, Brigham and Women's Hospital, and Harvard Medical School, Boston, Massachusetts.
    Low-density lipoprotein cholesterol (LDL-C) has been extensively evaluated. Prospective cohort studies, randomized controlled trials, biology, pathophysiology, genetics, and Mendelian randomization studies, have clearly taught us that LDL-C causes atherosclerotic cardiovascular disease. The newest class of drugs to lower LDL-C, the proprotein convertase subtilisin/kexin type 9 (PCSK9) monoclonal antibodies, have been found to safely reduce LDL-C approximately 60% when added to high-intensity statin therapy. Read More

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