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    11851 results match your criteria Hyperlipoproteinemia

    1 OF 238

    A novel frameshift mutation in the lipoprotein lipase gene is rescued by alternative messenger RNA splicing.
    J Clin Lipidol 2017 Mar - Apr;11(2):357-361. Epub 2017 Feb 3.
    LabPlus, Auckland City Hospital, Auckland, New Zealand.
    Background: Type I hyperlipoproteinemia, manifesting as chylomicronemia and severe hypertriglyceridemia, is a rare autosomal recessive disorder usually caused by mutations in the lipoprotein lipase gene (LPL).

    Objective: We sought to determine whether mutations in LPL could explain the clinical indications of a patient presenting with pancreatitis and hypertriglyceridemia.

    Methods: Coding regions of LPL were amplified by polymerase chain reaction and analyzed by nucleotide sequencing. Read More

    Serious adverse events and the risk of stroke in patients with rheumatoid arthritis: results from the German RABBIT cohort.
    Ann Rheum Dis 2017 May 8. Epub 2017 May 8.
    Epidemiology Unit, German Rheumatism Research Centre, Berlin, Germany.
    Objective: In the general population, the incidence of stroke is increased following other serious events and hospitalisation. We investigated the impact of serious adverse events on the risk of stroke in patients with rheumatoid arthritis (RA), taking risk factors and treatment into account.

    Methods: Using data of the German biologics register RABBIT (Rheumatoid Arthritis: Observation of Biologic Therapy) with 12354 patients with RA, incidence rates (IRs) and risk factors for stroke were investigated using multi-state and Cox proportional hazard models. Read More

    CREBH mediates metabolic inflammation to hepatic VLDL overproduction and hyperlipoproteinemia.
    J Mol Med (Berl) 2017 Apr 28. Epub 2017 Apr 28.
    The Department of Nutrition and Health Sciences, University of Nebraska-Lincoln, 316F Leverton Hall, Lincoln, NE, 68583-0806, USA.
    Metabolic inflammation is closely associated with hyperlipidemia and cardiovascular disease. However, the underlying mechanisms are not fully understood. The current study established that cAMP-responsive-element-binding protein H (CREBH), an acute-phase transcription factor, enhances very-low-density lipoprotein (VLDL) assembly and secretion by upregulating apolipoprotein B (apoB) expression and contributes to metabolic inflammation-associated hyperlipoproteinemia induced by TNFα, lipopolysaccharides (LPS), and high-fat diet (HFD) in mice. Read More

    Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy.
    J Clin Lipidol 2017 May - Jun;11(3):757-762. Epub 2017 Apr 3.
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX, USA. Electronic address:
    Extreme hypertriglyceridemia is rare in the neonatal period. We report a neonate with lipoprotein lipase (LPL) deficiency who presented with diagnostic and management conundrum. A full-term 36-day-old female was noted to have "Pepto-Bismol like" blood when repeating a newborn screening. Read More

    Autoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia.
    N Engl J Med 2017 04 5;376(17):1647-1658. Epub 2017 Apr 5.
    From the Departments of Medicine (A.P.B., M.A.M., N.P.S., X.H., C.M.A., M.L., L.G.F., S.G.Y.), Rheumatology (M.A.M.), Human Genetics (K.R., S.G.Y.), and Pathology and Laboratory Medicine (P.T.), David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, and the Cardiovascular Research Institute and Department of Physiological Nursing, University of California, San Francisco, San Francisco (C.R.P.); the Department of Clinical Laboratory Medicine, Gunma University Graduate School of Medicine, Maebashi (K.M., T.M., M.M., K.N.), and the Department of Insured Medical Care Management, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo (M.A.) - both in Japan; the Finsen Laboratory, Rigshospitalet, Copenhagen (M.P.); the Department of Medicine, University of Cape Town, Cape Town, South Africa (D.J.B.); the Departments of Medicine and Pharmacology, Vanderbilt University Medical Center, Nashville (M.F.L.); the Department of Medicine, Faculty of Medicine, Chulalongkorn University and Thai Red Cross Society, Bangkok, Thailand (W.K.); Clinique de Prévention Cardiovasculaire, Institut de Recherches Cliniques de Montréal, University of Montreal, Montreal (R.D.); the Department of Medicine, University of Texas Southwestern Medical Center, Dallas (A.G.); the Department of Medicine, Division of Endocrinology, Diabetes, and Metabolism, New York University School of Medicine, New York (I.J.G.); and Fédération d'Endocrinologie, Groupement Hospitalier Est, Hospices Civils de Lyon, INSERM UMR-1060 Carmen, Université de Lyon, Lyon, France (P.M., S.C.).
    Background: A protein that is expressed on capillary endothelial cells, called GPIHBP1 (glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1), binds lipoprotein lipase and shuttles it to its site of action in the capillary lumen. A deficiency in GPIHBP1 prevents lipoprotein lipase from reaching the capillary lumen. Patients with GPIHBP1 deficiency have low plasma levels of lipoprotein lipase, impaired intravascular hydrolysis of triglycerides, and severe hypertriglyceridemia (chylomicronemia). Read More

    Experimental models of hyperlipoproteinemia and atherosclerosis.
    Physiol Res 2017 Apr;66(Supplementum 1):S69-S75
    Centre for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
    The first experimental model of atherosclerosis (in rabbits) is more than hundred years old. Several animal species have been used to produce hyperlipoproteinemia and possible atherosclerosis. The gene manipulation produced the most used models recently. Read More

    The role of iron in the pathogenesis of atherosclerosis.
    Physiol Res 2017 Apr;66(Supplementum 1):S55-S67
    Second Department of Internal Medicine, Third Faculty of Medicine, Charles University and University Hospital Královské Vinohrady, Prague, Czech Republic.
    Ferritin and increased iron stores first appeared on the list of cardiovascular risk factors more than 30 years ago and their causal role in the pathogenesis of atherosclerosis has been heavily discussed since the early 1990s. It seems that besides traditional factors such as hyperlipoproteinemia, hypertension, diabetes mellitus, obesity, physical inactivity, smoking and family history, high iron stores represent an additional parameter that could modify individual cardiovascular risk. The role of iron in the pathogenesis of atherosclerosis was originally primarily associated with its ability to catalyze the formation of highly reactive free oxygen radicals and the oxidation of atherogenic lipoproteins. Read More

    Significance of lipoprotein(a) levels in familial hypercholesterolemia and coronary artery disease.
    Atherosclerosis 2017 May 18;260:67-74. Epub 2017 Mar 18.
    Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, BeiLiShi Road 167, Beijing 100037, China. Electronic address:
    Background And Aims: Patients with familial hypercholesterolemia (FH) are often characterized by premature coronary artery disease (CAD) with heterogeneity at onset. The aim of the present study was to investigate the associations of lipoprotein (a) [Lp(a)] with the FH phenotype, genotype and roles of Lp(a) in determining CAD risk among patients with and without FH.

    Methods: We enrolled 8050 patients undergoing coronary angiography, from our Lipid clinic. Read More

    The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study.
    Expert Rev Cardiovasc Ther 2017 May 4;15(5):415-423. Epub 2017 Apr 4.
    e Department of Medicine, Division of Endocrinology and Metabolism , University of California San Diego , La Jolla , CA , USA.
    Background: Familial Chylomicronemia Syndrome (FCS) is a rare genetic disorder that is caused by a decrease or an absence of lipoprotein lipase activity. FCS is characterized by marked accumulation of chylomicrons and extreme hypertriglyceridemia, which have major effects on both physical and mental health. To date, there have been no systematic efforts to characterize the impact of chylomicronemia on FCS patients' lives. Read More

    Lipoprotein (a) and coronary heart disease - is there an efficient secondary prevention?
    Clin Res Cardiol Suppl 2017 Mar;12(Suppl 1):18-21
    Clinic for Cardiology, Herz- und Diabeteszentrum NRW, Ruhr-Universität Bochum, Georgstr. 11, 32545, Bad Oeynhausen, Germany.
    Lipoprotein (a) (Lp (a)) is one risk factor for the development of cardiovascular diseases. Several studies have shown that Lp (a) hyperlipoproteinaemia has a particular influence on the development of coronary heart disease (CHD). A retrospective single-centre observation study was performed to evaluate the effectiveness of lipid apheresis on the basis of consecutively performed percutaneous coronary interventions (PCI) in patients with high Lp (a) values and angiographically documented CHD. Read More

    Primary and secondary prevention of cardiovascular disease in patients with hyperlipoproteinemia (a).
    Clin Res Cardiol Suppl 2017 Mar;12(Suppl 1):22-26
    2nd Medical Clinic - Nephrology, Hypertension and Vascular Diseases, AGAPLESION Markus-Hospital, Frankfurt/Main, Germany.
    General lipoprotein (Lp) (a) screening can help to identify patients at high risk for cardiovascular disease. Non-invasive methods allow early detection of clinically asymptomatic incipient atherosclerotic disease. Medical treatment options are still unsatisfactory. Read More

    The German Lipoprotein Apheresis Registry (GLAR) - almost 5 years on.
    Clin Res Cardiol Suppl 2017 Mar;12(Suppl 1):44-49
    Medizinische Klinik und Poliklinik 4, Universität München, Munich, Germany.
    Background: Since 2005 an interdisciplinary German apheresis working group has been established by members of both German Societies of Nephrology and of Lipidologists and completed the data set for the registry according to the current guidelines and the German indication guideline for apheresis in 2009. In 2011 the German Lipoprotein Apheresis Registry (GLAR) was launched and data are available over nearly 5 years now.

    Methods And Results: During the time period 2012-2016, 71 German apheresis centers collected retrospective and prospective observational data of 1435 patients undergoing lipoprotein apheresis (LA) treatment of high LDL-C levels and/or high Lp (a) levels suffering from cardiovascular disease (CVD) or progressive CVD. Read More

    Incidence of elevated lipoprotein (a) levels in a large cohort of patients with cardiovascular disease.
    Clin Res Cardiol Suppl 2017 Mar;12(Suppl 1):55-59
    Clinic for Cardiology, Herz- und Diabeteszentrum NRW, Ruhr-Universität Bochum, Georgstr. 11, 32545, Bad Oeynhausen, Germany.
    Background: Recently it has been demonstrated that elevated lipoprotein (a) (LPA) levels are associated with an increased risk of cardiovascular disease across multiple ethnic groups. However, there is only scanty data about the incidence of elevated LPA levels in different patient cohorts. As a consequence, we aimed to examine whether patients with elevated LPA levels might be seen more often in a cardiovascular center in comparison to the general population. Read More

    Prevention of cardiovascular complications in patients with Lp(a)-hyperlipoproteinemia and progressive cardiovascular disease by long-term lipoprotein apheresis according to German national guidelines.
    Clin Res Cardiol Suppl 2017 Mar;12(Suppl 1):38-43
    Apheresis Research Institute, Stadtwaldguertel 77, 50935, Cologne, Germany.
    Lipoprotein(a) (Lp(a)) is an independent cardiovascular risk factor playing a causal role for atherosclerotic cardiovascular disease (CVD). Lipoprotein apheresis (LA) is a safe well-tolerated outpatient treatment to lower LDL-C and Lp(a) by 60-70%, and is the ultimate escalating therapeutic option in patients with hyperlipoproteinemias (HLP) involving LDL particles. Major therapeutic effect of LA is preventing cardiovascular events. Read More

    Hyperlipoproteinaemia(a) - apheresis and emerging therapies.
    Clin Res Cardiol Suppl 2017 Mar;12(Suppl 1):12-17
    Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Ziemssenstrasse 1, 80336, München, Germany.
    A high level of lipoprotein(a) (Lp(a)) is recognized as an independent and additional cardiovascular risk factor contributing to the risk of early onset and progressive course of cardiovascular disease (CVD). All lipid lowering medications in use mainly lower low density lipoprotein-cholesterol (LDL-c) with no or limited effect on levels of Lp(a). Niacin, the only component lowering Lp(a), is firstly often poorly tolerated and secondly not available anymore in many countries. Read More

    Lipoprotein(a) in nephrological patients.
    Clin Res Cardiol Suppl 2017 Mar;12(Suppl 1):27-30
    Nephrological Center Villingen-Schwenningen, Albert-Schweitzer-Str. 6, 78052, Villingen-Schwenningen, Germany.
    In contrast to existing EAS/ESC guidelines on the management of lipid disorders, current recommendations from nephrological societies are very conservative and restrictive with respect to any escalation of lipid lowering/statin therapy. Furthermore, lipoprotein(a) (Lp(a)) - an established cardiovascular risk factor - has not even been mentioned. While a number of retrospective and prospective studies suggested that Lp(a) has relevant predictive value and might have - at least in stage-3 chronic kidney disease (CKD) - the same negative effects if draged along in non-CKD patients, there is no guidance on diagnostic or therapeutic procedures. Read More

    Lipoprotein(a)-hyperlipoproteinemia as cause of chronic spinal cord ischemia resulting in progressive myelopathy - successful treatment with lipoprotein apheresis.
    Clin Res Cardiol Suppl 2017 Mar;12(Suppl 1):50-54
    Apheresis Research Institute, Cologne, Germany.
    High concentrations of lipoprotein(a) (Lp(a)) represent an important independent and causal risk factor associated with adverse outcome in atherosclerotic cardiovascular disease (CVD). Effective Lp(a) lowering drug treatment is not available. Lipoprotein apheresis (LA) has been proven to prevent cardiovascular events in patients with Lp(a)-hyperlipoproteinemia (Lp(a)-HLP) and progressive CVD. 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

    Estimated Prevalence of Heterozygous Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome.
    Int Heart J 2017 Feb 24;58(1):88-94. Epub 2017 Jan 24.
    Department of Cardiovascular Medicine, Juntendo University Graduate School of Medicine.
    Heterozygous familial hypercholesterolemia (FH) represents a strong risk for development of premature coronary artery disease (CAD). However, the majority of patients with FH are undiagnosed and the prevalence likely represents an underestimate in most countries. In Japan, the possible contribution of FH to the development of CAD may be higher because of the low incidence of CAD among the general population. Read More

    Update on Familial Hypercholesterolemia: Diagnosis, Cardiovascular Risk, and Novel Therapeutics.
    Endocrinol Metab (Seoul) 2017 Mar 19;32(1):36-40. Epub 2017 Jan 19.
    Division of Cardiology, Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
    In recent studies, the reported prevalence of heterozygous familial hypercholesterolemia (FH) has been higher than in previous reports. Although cascade genetic screening is a good option for efficient identification of affected patients, diagnosis using only clinical criteria is more common in real clinical practice. Cardiovascular risk is much higher in FH patients due to longstanding low density lipoprotein cholesterol (LDL-C) burden and is also influenced by other risk factors. 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

    Diagnostic algorithm for familial chylomicronemia syndrome.
    Atheroscler Suppl 2017 Jan 18;23:1-7. Epub 2016 Dec 18.
    Centro regionale delle malattie rare del metabolismo dell'adulto (CERMMET) Policlinico "P. Giaccone", Palermo, Italy; Department of Biomedicine, Internal Medicine and Medical Specialties, DI.BI.MIS School of Medicine, University of Palermo, Palermo, Italy. Electronic address:
    Background: Familial chylomicronemia syndrome (FCS) is a rare genetic disease that leads to severe hypertriglyceridemia often associated with recurrent episodes of pancreatitis. The recognition and correct diagnosis of the disease is challenging due to its rarity, and to the lack of specificity of signs and symptoms. Lipid experts, endocrinologists, gastroenterologists, pancreatologists, and general practitioners may encounter patients who potentially have FCS. Read More

    Homozygous familial hypercholesterolaemia: update on management.
    Paediatr Int Child Health 2016 Nov;36(4):243-247
    a Cardiovascular Trials Unit , Central Manchester University Hospitals Foundation Trust and Cardiovascular Research Group, University of Manchester , Manchester , UK.
    Homozygous familial hypercholesterolaemia (HoFH) is an inherited disease causing an approximately fourfold increase in blood low-density lipoprotein cholesterol (LDLC) from birth compared with the age-matched normal population owing to reduced low-density lipoprotein receptor (LDLR) activity. Such elevated cholesterol is associated with accelerated atheromatous disease, particularly of the aortic root and coronary arteries. However, HoFH is clinically heterogeneous, reflecting residual low-density lipoprotein receptor (LDLR) activity. Read More

    [Glomerular lipidosis].
    G Ital Nefrol 2016 Malattie Metaboliche e Rene;33(S68)
    Lipidoses occur for an abnormal storage parenchymal deposition of lipids and products of their metabolism in large amounts or sometimes, involving only some particular tissue structures. The lipid storage is usually due to an inborn error causing an enzyme absence /deficiency in the primary lipidoses and to a complex metabolism alterations in the secondary forms. However, histologically all lipid depositions look very similar, and immunohistochemical investigation, clinical pictures knowledge and genetic tests need to make a correct diagnosis. Read More

    Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration.
    Atheroscler Suppl 2016 Dec 7;22:1-32. Epub 2016 Dec 7.
    Imperial Centre for Cardiovascular Disease Prevention (ICCP), School of Public Health, Imperial College London, London, UK.
    Background: The potential for global collaborations to better inform public health policy regarding major non-communicable diseases has been successfully demonstrated by several large-scale international consortia. However, the true public health impact of familial hypercholesterolaemia (FH), a common genetic disorder associated with premature cardiovascular disease, is yet to be reliably ascertained using similar approaches. The European Atherosclerosis Society FH Studies Collaboration (EAS FHSC) is a new initiative of international stakeholders which will help establish a global FH registry to generate large-scale, robust data on the burden of FH worldwide. Read More

    Early severe coronary artery disease and aortic coarctation in a child with familial hypercholesterolaemia.
    BMJ Case Rep 2016 Nov 30;2016. Epub 2016 Nov 30.
    Department of Cardiovascular Medicine, Cairo University, Giza, Egypt.
    An 11-year-old boy presented with easy fatigability, multiple xanthomas, and absent pedal pulsations. Laboratory workup showed severe hypercholesterolaemia and non-invasive imaging revealed 'normally functioning' bicuspid aortic valve and tight aortic coarctation. Coronary angiography showed severe right coronary artery (RCA) stenosis. Read More

    Increasing the Detection of Familial Hypercholesterolaemia Using General Practice Electronic Databases.
    Heart Lung Circ 2017 May 15;26(5):450-454. Epub 2016 Nov 15.
    Lipid Disorders Clinic, Cardiovascular Medicine, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia.
    Background: Familial hypercholesterolaemia (FH) is a common autosomal co-dominant condition that causes premature cardiovascular disease. Awareness of FH is poor and only 10-15% of the affected population is identified. Electronic health records provide an opportunity to increase detection and awareness in general practice OBJECTIVE: To determine whether a simple electronic extraction tool can increase detection of FH in general practice. Read More

    Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.
    Acta Biochim Pol 2017 23;64(1):75-79. Epub 2016 Nov 23.
    Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia.
    Familial hypercholesterolemia (FH) is most commonly caused by mutations in the LDL receptor (LDLR), which is responsible for hepatic clearance of LDL from the blood circulation. We described a severely affected FH proband and their first-degree blood relatives; the proband was resistant to statin therapy and was managed on an LDL apheresis program. In order to find the causative genetic variant in this family, direct exon sequencing of the LDLR, APOB and PCSK9 genes was performed. Read More

    The impact of citrate concentration on adhesion of platelets and leukocytes to adsorbents in whole blood lipoprotein apheresis.
    J Clin Apher 2016 Nov 17. Epub 2016 Nov 17.
    Christian Doppler Laboratory for Innovative Therapy Approaches in Sepsis, Department for Health Sciences and Biomedicine, Danube University Krems, Austria.
    Lipoprotein apheresis is applied to deplete low density lipoprotein and other apolipoprotein B containing lipoproteins in patients with severe familial hypercholesterolemia, hypertriglyceridemia associated pancreatitis, or lipoprotein (a)-hyperlipoproteinemia. Anticoagulation of the extracorporeal circuit may influence cellular activation, as evidenced by a reduction of inflammatory parameters during regional citrate anticoagulation with acid citrate dextrose A (ACD-A) commonly used in whole blood lipid apheresis. While the citrate concentration in the extracorporeal circuit has to ensure efficient anticoagulation, citrate infusion into the patient should be limited to avoid citrate overload. 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

    Lipoprotein lipase gene-deficient mice with hypertriglyceridaemia associated with acute pancreatitis.
    Acta Cir Bras 2016 Oct;31(10):655-660
    MD, Department of Gastroenterology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China. Conception and design of the study, analysis of data, manuscript writing, final approved.
    Purpose:: To investigate the severity of pancreatitis in lipoprotein lipase (LPL)-deficient hypertriglyceridaemic (HTG) heterozygous mice and to establish an experimental animal model for HTG pancreatitis study.

    Methods:: LPL-deficient HTG heterozygous mice were rescued by somatic gene transfer and mated with wild-type mice. The plasma amylase, triglyceride, and pathologic changes in the pancreas of the LPL-deficient HTG heterozygous mice were compared with those of wild-type mice to assess the severity of pancreatitis. Read More

    The prevalence and prognostic importance of possible familial hypercholesterolemia in patients with myocardial infarction.
    Am Heart J 2016 Nov 10;181:35-42. Epub 2016 Aug 10.
    The Heart Center, University Hospital of Copenhagen, Rigshospitalet, København Ø, Denmark.
    Aims: Familial hypercholesterolemia (FH) is a common genetic disorder causing accelerated atherosclerosis and premature cardiovascular disease. The aim of this study was to examine the prevalence and prognostic significance of possible FH in patients with myocardial infarction (MI).

    Methods And Results: By individual-level linkage of data from the Eastern Danish Heart Registry and national administrative registries, a study population of patients referred for coronary angiography due to MI was selected. Read More

    Type 1 Hyperlipoproteinemia Due to Compound Heterozygous Rare Variants in GCKR.
    J Clin Endocrinol Metab 2016 Nov 12;101(11):3884-3887. Epub 2016 Jul 12.
    Division of Endocrinology, Department of Internal Medicine (S.S.); McDermott Center for Human Growth and Development and Department of Clinical Sciences (C.X.); and Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition (A.G.), UT Southwestern Medical Center, Dallas, Texas 75390-8537.
    Background: Type 1 hyperlipoproteinemia (T1HLP) is a rare, autosomal recessive disorder characterized by extreme elevations in serum triglyceride (TG) levels. Despite considerable progress in identifying several causal genes for T1HLP, such as LPL, APOC2, APOA5, LMF1, and GPIHBP1, the molecular basis of some extremely rare patients presenting with T1HLP remains obscure.

    Case Description: We report a 58-year-old Hispanic female who initially presented with serum TG of 4740 mg/dL at age 23 years when she was 3 weeks postpartum and was taking an oral contraceptive for 2 weeks. Read More

    Referral Patterns and Cascade Screening for Familial Hypercholesterolemia in a Pediatric Lipid Clinic.
    J Pediatr 2016 Nov 31;178:285-287. Epub 2016 Aug 31.
    Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI. Electronic address:
    Charts of 42 children with familial hypercholesterolemia from a dyslipidemia clinic were reviewed for initial cholesterol screen indication and cascade screening results. Indications were universal screening (8/28 after guideline release, none before), family history (26/42), risk factor (5/42), and other (3/42). Cascade screening identified 63 relatives with unknown familial hypercholesterolemia. Read More

    Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
    N Engl J Med 2016 10;375(17):1628-1637
    From the Wolfson Institute of Preventive Medicine, Barts and the London School of Medicine and Dentistry, Queen Mary University of London (D.S.W., J.P.B., J.K.M., K.W., N.J.W.), and the North East Thames Molecular Genetics Laboratory, Great Ormond Street Hospital (L.J.) - all in London.
    Background: Child-parent screening for familial hypercholesterolemia has been proposed to identify persons at high risk for inherited premature cardiovascular disease. We assessed the efficacy and feasibility of such screening in primary care practice.

    Methods: We obtained capillary blood samples to measure cholesterol levels and to test for familial hypercholesterolemia mutations in 10,095 children 1 to 2 years of age during routine immunization visits. Read More

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