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    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 Feb 9. Epub 2017 Feb 9.
    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 Feb 9. Epub 2017 Feb 9.
    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)-hyperlipoproteinemia as cause of chronic spinal cord ischemia resulting in progressive myelopathy - successful treatment with lipoprotein apheresis.
    Clin Res Cardiol Suppl 2017 Feb 3. Epub 2017 Feb 3.
    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 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

    Update on Familial Hypercholesterolemia: Diagnosis, Cardiovascular Risk, and Novel Therapeutics.
    Endocrinol Metab (Seoul) 2017 Jan 19. 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

    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

    [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

    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

    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

    Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
    N Engl J Med 2016 Oct;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

    Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
    Arterioscler Thromb Vasc Biol 2016 Dec 20;36(12):2439-2445. Epub 2016 Oct 20.
    From the Robarts Research Institute (J.W., J.S.D., M.R.B., J.F.R., A.D.M., A.A.D., H.C., M.W.H., R.A.H.), Department of Biochemistry (J.S.D., M.A., A.A.D., M.W.H., R.A.H.), and Department of Medicine (P.J.Z., M.W.H., R.A.H.), Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada; Faculté de Médicine, Université de Montréal, Québec, Canada (M.-P.D., G.L., J.-C.T.); and Montréal Heart institute, Québec, Canada (D.R., C.L.-K., M.-P.D., G.L., J.-C.T.).
    Objective: Next-generation sequencing technology is transforming our understanding of heterozygous familial hypercholesterolemia, including revision of prevalence estimates and attribution of polygenic effects. Here, we examined the contributions of monogenic and polygenic factors in patients with severe hypercholesterolemia referred to a specialty clinic.

    Approach And Results: We applied targeted next-generation sequencing with custom annotation, coupled with evaluation of large-scale copy number variation and polygenic scores for raised low-density lipoprotein cholesterol in a cohort of 313 individuals with severe hypercholesterolemia, defined as low-density lipoprotein cholesterol >5. Read More

    [The SPACE project (Stav Pacientů Akceptovaných diabetologem Cestou Exportu/The Health Records of Patients Accepted by a Diabetologist by way of Export)].
    Vnitr Lek 2016 ;62(Suppl 3):22-27
    Introduction: A structured care of patients with diabetes is in place in the Czech Republic and the majority of patients are followed up by a diabetologist in outpatient diabetes units. The SPACE project (The Health Records of Patients Accepted by a Diabetologist by way of Export) was initiated to address the lack of the data which would allow for objective evaluation of how the cooperation in the care of patients with diabetes works in the real-life health care practice in the Czech Republic.

    Goal: Gaining the description of anthropometric parameters, presence of complications, the chosen therapy and metabolic state of patients registered for diabetes specialist care. Read More

    Lipemia Retinalis due to Secondary Hyperlipidemia in Type 1 Diabetes Mellitus.
    J Assoc Physicians India 2016 Apr;64(4):83-84
    Professor and Head of Medicine, Department of General Medicine, Coimbatore Medical College Hospital, Coimbatore, Tamil Nadu.
    Lipemia retinalis is a rare and asymptomatic condition which occurs when high levels of triglycerides and chylomicrons are present in blood. We report a rare case of secondary hyperlipoproteinemia in a 27 year old type 1 diabetes patient who presented with diabetic ketoacidosis and this peculiar ocular manifestation. The fundoscopic abnormality and creamy white serum cleared as the level of chylomicrons in the plasma dropped with intensive insulin therapy. Read More

    Novel Approaches for the Treatment of Familial Hypercholesterolemia.
    Exp Clin Endocrinol Diabetes 2016 Nov 6;124(10):583-587. Epub 2016 Oct 6.
    Department of Internal Medicine, Angiology Unit, Ospedale dell'Angelo, Via Paccagnella, Mestre (Venice).
    Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein (LDL) cholesterol.The extent of underdiagnosis and undertreatment of individuals with FH is largely unknown.The LDL-lowering capacity of statins in combination with other lipid-lowering drugs is maximally around 50-60%. Read More

    Frameshift mutation in the APOA5 gene causing hypertriglyceridemia in a Pakistani family: Management and considerations for cardiovascular risk.
    J Clin Lipidol 2016 Sep-Oct;10(5):1272-7. Epub 2016 Aug 9.
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada. Electronic address:
    We report a novel homozygous apolipoprotein A5 (APOA5) frameshift mutation (c.G425del-C, p.Arg143AlafsTer57) identified in a 12-year-old boy of Pakistani origin with severe hypertriglyceridemia (up to 35 mmol/L) and type V hyperlipoproteinemia. Read More

    Unsuccessful Redo MitraClip Procedure Leads to Acute Right Ventricular Failure in a Patient With Homozygous Familial Hypercholesterolemia and a Preexisting Atrial Septal Defect.
    A A Case Rep 2016 Dec;7(11):223-226
    From the *University of Texas Health Science Center, Houston, Texas; †Methodist DeBakey Heart and Vascular Center, Houston Methodist Hospital, Houston, Texas; and ‡University of Kentucky College of Medicine, Lexington, Kentucky.
    The MitraClip procedure is an emerging endovascular technique for treating mitral regurgitation and an attractive alternative for patients who are at high risk for open heart mitral valve repair or replacement. We present the case of a failed redo MitraClip procedure that led to acute right ventricular failure in a patient with homozygous familial hypercholesterolemia and a preexisting secundum atrial septal defect. We highlight the sequelae of the failed redo MitraClip procedure and the anesthetic challenges associated with the emergent redo sternotomy and cardiopulmonary bypass procedure required to replace the mitral valve and repair the tricuspid valve and atrial septal defect. Read More

    Homocysteine is a marker for metabolic syndrome and atherosclerosis.
    Diabetes Metab Syndr 2016 Aug 22. Epub 2016 Aug 22.
    Clinic for Cardiovascular Diseases, Faculty of Medicine, Belgrade University, Belgrade, Serbia.
    Background: It has been documented that patients with metabolic syndrome (MS) and vascular complications have higher homocysteine levels. Hyperhomocysteinemia correlates with IR, increasing oxidative stress, which causes lesions of vascular endothelium leading to endothelial dysfunction, hypertension and atherosclerosis.

    Objective: The objectives of the study were to examine homocysteine values, along with cardiovascular risk factors (lipid and apolipoprotein status, CRP, blood pressure), indicators of renal function (microalbuminuria/24h), glucose regulation and insulin resistance (glucose and insulin level, HbA1c, HOMA-IR, uric acid) and anthropometric parameters (BMI, WC, HC, WHR) in patients with and without MS as a correlation between homocysteine and MS factors. Read More

    Possible involvement of PCSK9 overproduction in hyperlipoproteinemia associated with hepatocellular carcinoma: A case report.
    J Clin Lipidol 2016 Jul-Aug;10(4):1045-9. Epub 2016 May 14.
    Division of Endocrinology and Metabolism, Department of Medicine, Jichi Medical University, School of Medicine, Shimotsuke, Tochigi, Japan. Electronic address:
    Herein, we describe a 69-year-old Japanese man with massive type III hyperlipoproteinemia (total cholesterol, 855 mg/dL; triglyceride, 753 mg/dL) presenting as a paraneoplastic manifestation of hepatitis B virus-associated hepatocellular carcinoma. The messenger RNA expression of sterol regulatory element-binding protein-2 and proprotein convertase subtilisin/kexin 9 in the tumor tissue was increased by 13-fold and 4-fold, respectively, compared with the non-tumor tissue. Serum level of active form of PCSK9 was 382 ng/mL (reference range: 253 ± 79 ng/mL). Read More

    Type 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1.
    J Clin Lipidol 2016 Jul-Aug;10(4):1035-1039.e2. Epub 2016 Apr 11.
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX, USA. Electronic address:
    Type I hyperlipoproteinemia (T1HLP) usually presents with extreme hypertriglyceridemia, recurrent episodes of acute pancreatitis, lipemia retinalis, and cutaneous eruptive xanthomas. We report a unique 10-year-old male of Indian origin who presented in neonatal period with transient obstructive jaundice and xanthomas in the pancreas and kidneys. Serum triglycerides stabilized with extremely low-fat diet although he subsequently developed pancreatic atrophy. Read More

    Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia.
    J Clin Lipidol 2016 Jul-Aug;10(4):816-23. Epub 2016 Mar 10.
    Department of Molecular and Clinical Medicine, University of Gothenburg, Gothenburg, Sweden; Clinical Nutrition Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy; Cardiology Department, Sahlgrenska University Hospital, Gothenburg, Sweden. Electronic address:
    Background: Type 1 hyperlipoproteinemia is a rare autosomal recessive disorder most often caused by mutations in the lipoprotein lipase (LPL) gene resulting in severe hypertriglyceridemia and pancreatitis.

    Objectives: The aim of this study was to identify novel mutations in the LPL gene causing type 1 hyperlipoproteinemia and to understand the molecular mechanisms underlying the severe hypertriglyceridemia.

    Methods: Three patients presenting classical features of type 1 hyperlipoproteinemia were recruited for DNA sequencing of the LPL gene. Read More

    Cost-effectiveness of PCSK9 Inhibitor Therapy in Patients With Heterozygous Familial Hypercholesterolemia or Atherosclerotic Cardiovascular Disease.
    JAMA 2016 Aug;316(7):743-53
    Department of Medicine, Center for Vulnerable Populations, University of California, San Francisco2Department of Medicine, University of California, San Francisco3Department of Epidemiology and Biostatistics, University of California, San Francisco8Divisi.
    Importance: Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors were recently approved for lowering low-density lipoprotein cholesterol in heterozygous familial hypercholesterolemia (FH) or atherosclerotic cardiovascular disease (ASCVD) and have potential for broad ASCVD prevention. Their long-term cost-effectiveness and effect on total health care spending are uncertain.

    Objective: To estimate the cost-effectiveness of PCSK9 inhibitors and their potential effect on US health care spending. Read More

    Lipid Screening in Childhood and Adolescence for Detection of Familial Hypercholesterolemia: Evidence Report and Systematic Review for the US Preventive Services Task Force.
    JAMA 2016 Aug;316(6):645-55
    Kaiser Permanente Center for Health Research, Kaiser Permanente Research Affiliates Evidence-Based Practice Center, Portland, Oregon.
    Importance: Familial hypercholesterolemia (FH) is characterized by elevated cholesterol concentrations early in life. Untreated FH is associated with premature cardiovascular disease in adulthood.

    Objective: To systematically review the evidence on benefits and harms of screening adolescents and children for heterozygous FH for the US Preventive Services Task Force (USPSTF). Read More

    Screening for Lipid Disorders in Children and Adolescents: US Preventive Services Task Force Recommendation Statement.
    JAMA 2016 Aug;316(6):625-33
    Mount Sinai School of Medicine, New York, New York21James J. Peters Veterans Affairs Medical Center, Bronx, New York.
    Importance: Elevations in levels of total, low-density lipoprotein, and non-high-density lipoprotein cholesterol; lower levels of high-density lipoprotein cholesterol; and, to a lesser extent, elevated triglyceride levels are associated with risk of cardiovascular disease in adults.

    Objective: To update the 2007 US Preventive Services Task Force (USPSTF) recommendation on screening for lipid disorders in children, adolescents, and young adults.

    Evidence Review: The USPSTF reviewed the evidence on screening for lipid disorders in children and adolescents 20 years or younger--1 review focused on screening for heterozygous familial hypercholesterolemia, and 1 review focused on screening for multifactorial dyslipidemia. Read More

    Klin Med (Mosk) 2016 ;94(3):231-4
    Deterioration of health characteristics and ever increasing diabetes and cardiovascular morbidity among young subjects imply the necessity of identification ofpossible risk factors of these conditions. We evaluated the prevalence of hyperlipoproteinemia and adipose tissue activity based on the results of screening for resistin level, aggravated heredity, disordered hydrocarbon metabolism, overweight, arterial hypertension, behaviour (physical overstrain, hypokinesia, smoking, inadequate dietary regime). The risk of developing type 2 diabetes mellitus and overall risk of cardiovascular disorders were calculated. Read More

    Tamoxifen precipitation of familial hypertriglyceridaemia: a rare cause of acute pancreatitis.
    BMJ Case Rep 2016 Aug 3;2016. Epub 2016 Aug 3.
    Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, Birmingham, UK.
    Drug-induced pancreatitis is uncommon, and is estimated to account for between 0.1% and 5% of cases. Tamoxifen is commonly used in the management of oestrogen receptor-positive breast cancer. Read More

    The relationship between non-HDL cholesterol and macrophage phenotypes in human adipose tissue.
    J Lipid Res 2016 Oct 1;57(10):1899-1905. Epub 2016 Aug 1.
    Laboratory for Atherosclerosis Research, Centre for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
    Data from experimental animal models and in vitro studies suggest that both hyperlipoproteinemia and obesity predispose to development of proinflammatory pathways of macrophages within adipose tissue. The aim of this study was to analyze whether non-HDL cholesterol concentration in healthy living kidney donors (LKDs) is related to the number and phenotype of proinflammatory macrophages in visceral and subcutaneous adipose tissue. Adipose tissue samples were collected by cleansing the kidney grafts of LKDs obtained peroperatively. Read More

    Type III Hyperlipoproteinemia: Still Worth Considering?
    Prog Cardiovasc Dis 2016 Sep - Oct;59(2):119-124. Epub 2016 Jul 30.
    Columbia University College of Physicians and Surgeons, New York, NY 10019, USA. Electronic address:
    Familial type III hyperlipoproteinemia (HLP) was first recognized as a distinct entity over 60 years ago. Since then, it has proven to be instructive in identifying the key role of apolipoprotein E (apoE) in removal of the remnants of very low density lipoproteins and chylomicrons produced by the action of lipoprotein lipase on these triglyceride-transporting lipoproteins. It has additionally shed light on the potent atherogenicity of the remnant lipoproteins. Read More

    [Up to date lipid lowering treatment].
    Orv Hetil 2016 Jul;157(31):1219-23
    III. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest.
    Considerable evidence suggests that "the lower the better" is a reasonable approach for reducing cardiovascular risk by lowering LDL cholesterol levels. Despite the reduction in cardiovascular events and mortality achieved by statin therapy, significant residual risk remains, especially in severe hereditary hypercholesterolemia, such as familial hypercholesterolemia. Some new strategies to achieve even lower LDL levels are now available, including the addition of cholesterol absorption inhibitor ezetimibe, and the recently available Proprotein convertase subtilisin/kexin type 9 monoclonal antibodies. Read More

    Prognosis of Patients With Familial Hypercholesterolemia After Acute Coronary Syndromes.
    Circulation 2016 Sep 26;134(10):698-709. Epub 2016 Jul 26.
    From Department of Ambulatory Care and Community Medicine, University of Lausanne, Lausanne, Switzerland (D.N., R.A.); Division of Cardiology, Faculty of Medicine (B.G., D.C., F.M.) and Department of Internal Medicine (S.C.), Geneva University Hospitals, Geneva, Switzerland; Service of Cardiology, Lausanne University Hospital, Lausanne, Switzerland (O.M.); Institute of Primary Health Care (R.A., N.R.), Institute of Social and Preventive Medicine and Clinical Trials Unit, Department of Clinical Research (S.A., D.H.), and Department of General Internal Medicine, Inselspital, Bern University Hospital (N.R.), University of Bern, Bern, Switzerland; Department of Cardiology, University Heart Center, University Hospital Zurich and University of Zurich, Zurich, Switzerland (R.K., C.M.M., T.F.L.); and Department of Cardiology, University Hospital Bern, Bern, Switzerland (L.R., S.W.).
    Background: Patients with heterozygous familial hypercholesterolemia (FH) and coronary heart disease have high mortality rates. However, in an era of high-dose statin prescription after acute coronary syndrome (ACS), the risk of recurrent coronary and cardiovascular events associated with FH might be mitigated. We compared coronary event rates between patients with and without FH after ACS. Read More

    Focus on PCSK9 Inhibitors: From Genetics to Clinical Practice.
    Postgrad Med 2016 Oct 14;128 Suppl 1:31-9. Epub 2016 Jul 14.
    f MB Clinical Research.
    Elevation of low-density lipoprotein cholesterol (LDL-C) is an important cause of atherosclerotic cardiovascular disease (ASCVD). Over the years, clinical outcome studies with LDL-C lowering agents have revealed that reducing LCL-C levels is effective in reducing rates of major ASCVD events. Although secondary factors play a role in clinical expression, severe lipid disorders often have a strong genetic component. Read More

    Lipoprotein Apheresis for Lipoprotein(a)-Associated Cardiovascular Disease: Prospective 5 Years of Follow-Up and Apolipoprotein(a) Characterization.
    Arterioscler Thromb Vasc Biol 2016 Sep 14;36(9):2019-27. Epub 2016 Jul 14.
    From the Center for Nephrology, Hypertension, and Metabolic Diseases, Hannover, Germany (E.R.); 3rd Medical Clinic, University Hospital at the Technische Universität, Dresden, Germany (U.J.); Medical Health and Care Center Kempten-Allgäu, Kempten, Germany (F.H.); Dialysis and Lipid Center North Rhine, Essen, Germany (R.S.); Clinic for Nephrology and Dialysis, Tangermuende, Germany (D.H.); KfH-Kidney Center, Germering, Germany (P.B.); 1st Medical Clinic, General Hospital, Passau, Germany (J.L.); Institute of Medical Statistics, Informatics and Epidemiology, University of Cologne, Cologne, Germany (W.L.); Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Copenhagen, Denmark (P.R.K., B.G.N.); Medical Clinic V, Medical Faculty Mannheim, University of Heidelberg, Heidelberg, Germany (W.M.); Synlab Academy, Mannheim, and Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria (W.M.); Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria (A.N., K.S., F.K.); and Apheresis Research Institute, Cologne, Germany (A.H., R.K.).
    Objective: Lipoprotein(a)-hyperlipoproteinemia (Lp(a)-HLP) along with progressive cardiovascular disease has been approved as indication for regular lipoprotein apheresis (LA) in Germany since 2008. We aimed to study the long-term preventive effect of LA and to assess hypothetical clinical correlations of apolipoprotein(a) (apo(a)) by analyzing genotypes and phenotypes.

    Approach And Results: This prospective observational multicenter study included 170 patients with Lp(a)-HLP and progressive cardiovascular disease (48. Read More

    Long-Term Risk of Atherosclerotic Cardiovascular Disease in US Adults With the Familial Hypercholesterolemia Phenotype.
    Circulation 2016 Jul;134(1):9-19
    From Division of Cardiology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago (A.M.P.), Department of Preventive Medicine (A.M.P., H.N., J.T.W., D.M.L.-J.), and Division of Cardiology, Department of Medicine (J.T.W., D.M.L.-J.), Northwestern University Feinberg School of Medicine, Chicago, IL; Department of Cardiology, Boston Children's Hospital, Harvard Medical School, MA (S.D.d.F.); and Division of Adolescent and Young Adult Medicine, Boston Children's Hospital, Harvard Medical School, MA (H.C.G.).
    Background: Heterozygous familial hypercholesterolemia (FH) affects up to 1 in 200 individuals in the United States, but atherosclerotic cardiovascular disease (ASCVD) outcomes of FH in the general US population have not been described. We therefore sought to evaluate long-term coronary heart disease (CHD) and total ASCVD risks in US adults with an FH phenotype.

    Methods: Using individual pooled data from 6 large US epidemiological cohorts, we stratified participants by low-density lipoprotein cholesterol level at index ages from 20 to 79 years. Read More

    [Heterozygous familial hypercholesterolemia: the first challenge for anti-PCSK9 monoclonal antibodies].
    G Ital Cardiol (Rome) 2016 Apr;17(4 Suppl 1):22S-30
    Clinica Medica 1, Dipartimento di Medicina, Università degli Studi, Padova.
    Heterozygous familial hypercholesterolemia (HeFH) is characterized by a prevalence of 1/200 (higher than 1/500 as previously estimated): based on this updated prevalence, in Italy there are about 250-300 000 subjects with HeFH. Patients with HeFH are significantly underdiagnosed (in Italy only 4-5% of total estimated HeFH are properly diagnosed), undertreated (only 1 in 5 to 10 HeFH at target for LDL-cholesterol), and characterized by a high or very high cardiovascular risk. There are simple criteria for the diagnosis of familial hypercholesterolemia such as those issued by the Dutch Lipid Clinic Network (DLCN), easy to implement both in general practice as well as by the specialists. Read More

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