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    8037 results match your criteria Hypercholesterolemia Familial

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    Achilles Tendon Xanthomas: Fat-Water Separation at Baseline and After Treatment.
    Radiology 2017 Aug 21:161435. Epub 2017 Aug 21.
    From the Departments of Imaging & Interventional Radiology (J.F.G., D.K.W.Y., F.X., D.W.), Medicine & Therapeutics (M.H., B.T.), and Chemistry (P.G., S.L.L.), Prince of Wales Hospital, The Chinese University of Hong Kong, 30-32 Ngan Shing St, Shatin, NT, Hong Kong.
    Purpose To investigate the fat-water content of Achilles tendon xanthomas at baseline and after treatment and to compare this assessment with that of ultrasonography (US) and other magnetic resonance (MR) imaging-based parameters. Materials and Methods Forty-eight Achilles tendons with clinically apparent xanthomas in 24 patients with familial hypercholesterolemia (FH) (six men, 18 women; mean age ± standard deviation, 58 years ± 9) were compared with 20 Achilles tendons in 10 control subjects without FH (two men, eight women; mean age, 62 years ± 7). US imaging measurements (thickness, width, cross-sectional area, echogenicity) and 3. Read More

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

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

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

    Glucose-dependent leukocyte activation in familial hypercholesterolemia.
    Eur J Clin Invest 2017 Aug 16. Epub 2017 Aug 16.
    Department of Internal Medicine, Center for Endocrinology, Diabetes and Vascular Medicine, Franciscus GasthuisVlietland, Rotterdam, the Netherlands.
    Background: Leukocyte activation is an obligatory factor in the development of atherosclerosis. The postprandial situation has been associated to increased leukocyte activation in several disorders, such as type 2 diabetes mellitus and familial combined hyperlipidemia. Our study aim was to evaluate the effect of post-OGTT hyperglycemia on leukocyte activation in patients with familial hypercholesterolemia (FH). Read More

    Evolocumab for the treatment of hypercholesterolemia.
    Expert Opin Biol Ther 2017 Aug 16:1-15. Epub 2017 Aug 16.
    d Department of Cardiac Surgery, Shanghai East Hospital , Tongji University , Shanghai , China.
    Introduction: Evolocumab is a fully human monoclonal immunoglobulin G2 directed against human proprotein convertase subtilisin/kexin type 9 (PCSK9). It is administered by subcutaneous injection every 2 weeks or once monthly. Area covered: Herein, the authors discuss the rationale for inhibiting PCSK9 and describe the pharmacodynamics, pharmacokinetics and clinical trials with evolocumab. Read More

    Circulating miR-200c is up-regulated in paediatric patients with familial hypercholesterolaemia and correlates with miR-33a/b levels: implication of a ZEB1-dependent mechanism.
    Clin Sci (Lond) 2017 Aug 15. Epub 2017 Aug 15.
    Istituto Dermopatico dell'Immacolata, Rome, N/A, 00100, Italy
    Hypercholesterolaemia provokes reactive oxygen species (ROS) increase and is a major risk factor for cardiovascular diseases (CVD) development. We previously showed that circulating microRNA(miR)-33a/b expression levels were up-regulated in children with familial hypercholesterolaemia (FH). miR-33a/b control cholesterol homoeostasis and recently miR-33b has been demonstrated to directly target the transcription factor ZEB1. Read More

    2D-STI combined with gated (99)Tc(m)-MIBI MPI for the diagnosis of myocardial ischemia in hypercholesterolemia patients.
    Exp Ther Med 2017 Aug 14;14(2):981-994. Epub 2017 Jun 14.
    Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, P.R. China.
    This study aimed to investigate the reliability of ultrasound two-dimensional speckle tracking imaging (2D-STI) for the evaluation of myocardial ischemia in familial hypercholesterolemia (FH) patients. We recruited 28 patients clinically diagnosed with homozygous familial hypercholesterolemia (HoFH) and subjected them to 2D-STI, gated transthoracic Doppler echocardiography (TTDE), and (99)Tc(m)-methoxyisobutylisonitrile myocardial perfusion imaging ((99)Tc(m)-MIBI MPI). The sensitivity, specificity and diagnostic accordance rate of TTDE and 2D-STI for myocardial ischemia in HoFH patients were compared with the (99)Tc(m)-MIBI scores. Read More

    Rapidly progressive atherosclerosis after domino liver transplantation from a teenage donor with homozygous familial hypercholesterolemia.
    J Clin Lipidol 2017 Jul 22. Epub 2017 Jul 22.
    Division of Cardiovascular Medicine, Department of Internal Medicine, 1500 E. Medical Center Dr, Ann Arbor, MI, USA.
    Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by impaired clearance of low-density lipoprotein cholesterol. Given limitations in pharmacologic therapy and the significant morbidity and mortality associated with this disease, liver transplantation may be offered to select homozygous FH patients in childhood in an effort to slow progression of atherosclerotic cardiovascular disease. In rare cases, domino liver transplantation can be performed, transplanting the livers of patients with various metabolic disorders into elderly recipients whose projected survival precludes prolonged waiting on the transplant list. Read More

    Lipid Lowering Therapy and Circulating PCSK9 Concentration.
    J Atheroscler Thromb 2017 Aug 14. Epub 2017 Aug 14.
    Division of Cardiology, Department of Internal Medicine, Yokohama Sakae Kyosai Hospital.
    Hypercholesterolemia, particularly an increase in low-density lipoprotein cholesterol (LDL-C) levels, contributes substantially to the development of coronary artery disease and the risk for cardiovascular events. As the first-line pharmacotherapy, statins have been shown to reduce both LDL-C levels and cardiovascular events. However, despite intensive statin therapy, a sizable proportion of statin-treated patients are unable to achieve the recommended target LDL-C levels, and not all patients can avoid future cardiovascular events. Read More

    Cardiovascular disease in familial hypercholesterolemia: Validation and refinement of the Montreal-FH-SCORE.
    J Clin Lipidol 2017 Jul 27. Epub 2017 Jul 27.
    Nutrition, Metabolism and Atherosclerosis Clinic, Montreal Clinical Research Institute, Montreal, Québec, Canada; Division of Experimental Medicine, Department of Medicine, McGill University, Montreal, Québec, Canada; Division of Medical Biochemistry, Department of Medicine, McGill University, Montreal, Québec, Canada. Electronic address:
    Background: Familial hypercholesterolemia (FH) is a disease characterized by increased low-density lipoprotein cholesterol and premature cardiovascular disease (CVD) but there is marked individuality in the occurrence of CVD events. Recently, the Montreal-FH-SCORE (MFHS) has been shown to stratify CVD frequency in FH subjects, but this score has not yet been validated.

    Objective: The aims of the present study were to conduct an independent external validation of the MFHS in a retrospective cohort of heterozygous FH and to identify additional variables that could significantly improve the prediction of prevalent CVD. Read More

    The Roles of Apo(a) Size, Phenotype, and Dominance Pattern in PCSK9-inhibition Induced Reduction in Lp(a) With Alirocumab.
    J Lipid Res 2017 Aug 10. Epub 2017 Aug 10.
    UC Davis, United States;
    An elevated level of lipoprotein(a) [Lp(a)] is a risk factor for cardiovascular disease. Alirocumab, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9, is reported to reduce Lp(a) levels. The relationship of Lp(a)-reduction with apolipoprotein(a) [apo(a)] size polymorphism, phenotype, and dominance pattern and LDL-C-reduction was evaluated in a pooled analysis of 155 hypercholesterolemic patients (75 with heterozygous familial hypercholesterolemia) from 2 clinical trials. Read More

    Oxidized Low-Density Lipoprotein Loading of Macrophages Downregulates TLR-Induced Proinflammatory Responses in a Gene-Specific and Temporal Manner through Transcriptional Control.
    J Immunol 2017 Aug 7. Epub 2017 Aug 7.
    Toronto General Hospital Research Institute, University Health Network, Toronto, Ontario M5G 1L7, Canada.
    Hypercholesterolemia is a key risk factor for atherosclerosis and leads to the uptake of native and oxidized low-density lipoprotein (oxLDL) by macrophages (Mϕs) and foam cell formation. Inflammatory processes accompany Mϕ foam cell formation in the artery wall, yet the relationship between Mϕ lipid loading and their response to inflammatory stimuli remains elusive. We investigated proinflammatory gene expression in thioglycollate-elicited peritoneal Mϕs, bone marrow-derived Mϕs and dendritic cells, and RAW264. Read More

    PCSK9 inhibition in the management of familial hypercholesterolemia.
    J Cardiol 2017 Aug 4. Epub 2017 Aug 4.
    Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan. Electronic address:
    Familial hypercholesterolemia (FH) is a frequent hereditary metabolic disease characterized by high serum low-density lipoprotein (LDL) cholesterol concentration and premature atherosclerotic cardiovascular disease (ASCVD). The discovery of the LDL receptor as one of the causative genes of FH enabled us to understand the pathophysiology of FH and paved the way for developing statins. Similar to LDL receptor, discovery of proprotein convertase subtilisin/kexin type 9 (PCSK9) also created an opportunity for developing its inhibitors. Read More

    PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.
    Anatol J Cardiol 2017 Aug 2. Epub 2017 Aug 2.
    Department of Cardiology, Faculty of Medicine, Ege University; İzmir-Turkey.
    Objective: The molecular basis of the mutations in the PCSK9 gene that produces familial hypercholesterolemia (FH) in the Turkish population is unknown. This study was conducted to determine the presence of four different PCSK9 gain-of-function (GOF) mutations (F216L, R496W, S127R, and D374Y) in a group of patients with FH.

    Methods: A total of 80 consecutive patients with FH (mean age: 56±11 years; mean maximum LDL cholesterol: 251±76 mg/dL) were included in the study. Read More

    Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.
    Atherosclerosis 2017 Jul 22;264:58-66. Epub 2017 Jul 22.
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, USA; Molecular Biology Institute at UCLA, Los Angeles, USA; Bioinformatics Interdepartmental Program, UCLA, Los Angeles, CA, USA. Electronic address:
    Background And Aims: Hypercholesterolemia confers susceptibility to cardiovascular disease (CVD). Both serum total cholesterol (TC) and LDL-cholesterol (LDL-C) exhibit a strong genetic component (heritability estimates 0.41-0. Read More

    World Heart Federation Cholesterol Roadmap.
    Glob Heart 2017 Jul 29. Epub 2017 Jul 29.
    World Heart Federation, Geneva, Switzerland; Department of Cardiovascular Medicine, Imperial College London, London, United Kingdom; National Heart and Lung Institute, Bethesda, MD, USA.
    Background: The World Heart Federation has undertaken an initiative to develop a series of Roadmaps.

    Objectives: The aim of these is to promote development of national policies and health systems approaches and identify potential roadblocks on the road to effective prevention, detection and management of cardiovascular disease (CVD) in low-and middle-income countries (LMIC), and strategies for overcoming these. This Roadmap focuses on elevated blood cholesterol, a leading risk factor for myocardial infarction, stroke, and peripheral arterial disease. Read More

    Whole-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report.
    J Clin Diagn Res 2017 Jun 1;11(6):GD01-GD06. Epub 2017 Jun 1.
    Assistant Professor, Department of Biochemistry, University of Hail, School of Medicine and Center for Molecular Diagnostic, Personalized and Therapeutic Unit, Hail, Saudi Arabia.
    Familial hypercholesterolemia is an autosomal dominant genetic disease characterized by earlier elevated Low-Density Lipoprotein (LDL) cholesterol levels and increased risk for premature Myocardial Infarction (MI). Albeit the diagnosis of some medical Familial Hypercholesterolemia (FH) cases are due to mutations in PCSK9, APOB, or LDLR, detection of mutation rate and profiles relies heavily on different gene pools and ethnicity. We ran exome sequencing on blood genomic DNA (gDNA) from a 26-year-old Saudi patient on Ion Proton Platform (Ion Torrent, Guilford, Connecticut, USA) as part of a pilot study preluding the establishment of the Saudi Human Genome project. Read More

    [Recommendations of the European Society of Cardiology and the European Atherosclerosis Society on Cardiovascular Disease Prevention and Management of Dyslipidemias. for the Diagnosis of Atherosclerosis and Dyslipidemia Treatment (2016): Basic S.G.]
    Kardiologiia 2017 Mar;57(3):85-89
    National Research Center for Preventive Medicine, Moscow, Russia.
    This review summarizes the main provisions of the new, issued in 2016, recommendations of the European Society of Cardiology and Atherosclerosis Society in cooperation with the European Association on Cardiovascular Prevention and Rehabilitation on Cardiovascular disease prevention and Management of dyslipidemia. In these recommendations, the following trends can be traced distinctly: priority in primary prevention is given to non-drug methods of influence; targets of hypolipidemic therapy are identified not only for low density lipoprotein (LDL) cholesterol (CH), but also for non-high density lipoprotein (HDL) CH, especially in cases of concomitant hypertriglyceridemia. In the field of therapy, in which statins remain the main tool of correction of hyperlipidemia, it is recommended to more widely resort to the use of combination therapy, especially in cases of familial hypercholesterolemia or intolerance to statins; introduction of a new class of drugs- inhibitors of proprotein convertase subtilisin/kexin type 9 makes it possible to further reduce the level of LDLCH, lipoprotein(a) more than 60%. Read More

    Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia.
    Cholesterol 2017 6;2017:3685265. Epub 2017 Jul 6.
    Departments of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
    Valvular heart disease frequently occurs as a consequence of premature atherosclerosis in individuals with familial hypercholesterolemia (FH). Studies have primarily focused on aortic valve calcification in heterozygous FH, but there is paucity of data on the incidence of valvular disease in homozygous FH. We performed echocardiographic studies in 33 relatively young patients (mean age: 26 years) with homozygous FH (mean LDL of 447 mg/dL, 73% on LDL apheresis) to look for subclinical valvulopathy. Read More

    Multimodality assessment of left ventricular dysfunction in Takayasu arteritis and familial hypercholesterolaemia.
    ESC Heart Fail 2017 Jul 31. Epub 2017 Jul 31.
    Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, 565-8565, Osaka, Japan.
    Although left ventricular (LV) systolic dysfunction in patients suffering from Takayasu arteritis (TA) has been reported, little is known regarding the development of heart failure in these patients. We report a novel finding of active TA and familial hypercholesterolaemia presenting with severe LV dysfunction through multimodality assessments of LV systolic dysfunction. Read More

    Anti-PCSK9 antibodies for hypercholesterolaemia: Overview of clinical data and implications for primary care.
    Int J Clin Pract 2017 Jul 27. Epub 2017 Jul 27.
    Polyclinic for Endocrinology, Diabetes and Preventive Medicine (PEDP), University of Cologne, Cologne, Germany.
    Objectives: To put data from our recent systematic review of phase 3 studies of anti-proprotein convertase subtilisin/kexin type 9 (PCSK9) antibodies into the context of clinical practice.

    Methods: Data from studies previously identified by a systematic review of phase 3 studies of alirocumab and evolocumab and additional references from non-systematic literature searches were used. We evaluated the hypothetical cardiovascular (CV) benefit in cases of typical patients in whom anti-PCSK9 antibodies may be recommended, using preliminary major CV event (CVE) rates from long-term clinical trials of anti-PCSK9 antibodies and from extrapolations derived from correlation between low-density lipoprotein cholesterol (LDL-C) reduction and CV benefit with other lipid-lowering therapies (LLTs). Read More

    Original Research: The Effects of Red Yeast Rice Supplementation on Cholesterol Levels in Adults.
    Am J Nurs 2017 Aug;117(8):46-54
    Diane Peng is a family nurse practitioner (FNP) at Temple Physicians in Philadelphia, Amy Fong is an FNP in the San Francisco Bay Area, and Amanda van Pelt is an FNP at Greater Philadelphia Health Action. At the time of this study, the authors were students in the NP program at the University of Pennsylvania School of Nursing, Philadelphia. The authors acknowledge Ann O'Sullivan and Robin Proctor for their help during the revision process. Contact author, Diane Peng: The authors have disclosed no potential conflicts of interest, financial or otherwise.
    : Purpose: Red yeast rice (RYR) supplementation has become a popular alternative to statin therapy in treating hypercholesterolemia. This state-of-the-science review seeks to explore the most recent evidence on the effectiveness and safety of RYR supplementation in treating dyslipidemic adults.

    Methods: This review extends the time frame of a meta-analysis performed by Li and colleagues in 2014; specifically, we looked at the literature published between September 2013 and April 2016. Read More

    Clinical utility of evolocumab in the management of hyperlipidemia: patient selection and follow-up.
    Drug Des Devel Ther 2017 11;11:2121-2129. Epub 2017 Jul 11.
    Pauley Heart Center.
    Inhibition of PCSK9 is a novel therapeutic strategy aimed at reducing low-density-lipoprotein cholesterol (LDL-C) and cardiovascular risk. Evolocumab is a fully humanized monoclonal antibody that inhibits PCSK9, an enzyme that binds to LDL receptors and prevents them from recycling to the hepatocyte surface. Clinical trials have demonstrated 50%-70% reductions in LDL-C with evolocumab when used in combination with statin therapy. Read More

    Eligibility for alirocumab or evolocumab treatment in 1090 hypercholesterolemic patients referred to a regional cholesterol treatment center with LDL cholesterol ≥70 mg/dL despite maximal-tolerated LDL-cholesterol-lowering therapy.
    Vasc Health Risk Manag 2017 6;13:247-253. Epub 2017 Jul 6.
    Department of Internal Medicine, Cholesterol Center, Jewish Hospital of Cincinnati, Cincinnati, OH, USA.
    Background: Proprotein convertase subtilisin/kexin type 9 inhibitors, Praluent (alirocumab [ALI]) and Repatha (evolocumab [EVO]) have been approved as adjuncts to the standard-of-care maximal-tolerated dose (MTD) of low-density lipoprotein cholesterol (LDLC)-lowering therapy (LLT), statin therapy, in heterozygous (HeFH) (ALI or EVO) or homozygous (EVO) familial hypercholesterolemia, or clinical atherosclerotic cardiovascular disease (CVD) where LDLC lowering is insufficient (both). Since LDLC lowering has been revolutionized by ALI and EVO, specialty pharmaceutical pricing models will be applied to a mass market.

    Methods: We applied US Food and Drug Administration (FDA) and insurance eligibility criteria for ALI and EVO to 1090 hypercholesterolemic patients serially referred over 3 years who then received ≥2 months maximal-tolerated dose of standard-of-care LDL cholesterol-lowering therapy (MTDLLT) with follow-up LDLC ≥70 mg/dL. Read More

    Efficacy and safety of proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitors, alirocumab and evolocumab, a post-commercialization study.
    Lipids Health Dis 2017 Jul 24;16(1):141. Epub 2017 Jul 24.
    Graduate Medical Education and Research, The Jewish Hospital- Mercy Health, Graduate Medical Education and Research, Cincinnati, USA.
    Background: Efficacy-safety of proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitors, alirocumab (ALI) and evolocumab (EVO), have previously been evaluated through controlled clinical trials with selective patient groups. Post-commercially, in 69 patients with heterozygous familial hypercholesterolemia (HeFH) and/or cardiovascular disease (CVD) with suboptimal LDL cholesterol (LDLC) lowering on maximal tolerated LDLC therapy, we assessed efficacy and safety of ALI and EVO.

    Methods: Post-commercially, we started 29 patients on ALI 75 mg, 18 on ALI 150 mg, and 22 on EVO 140 mg every 2 weeks added to a maximally tolerated LDLC-lowering regimen. Read More

    PCSK9 in context: A contemporary review of an important biological target for the prevention and treatment of atherosclerotic cardiovascular disease.
    Diabetes Obes Metab 2017 Jul 24. Epub 2017 Jul 24.
    Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital, Perth, Western Australia.
    Proprotein convertase subtilisin/kexin type 9 (PCSK9) and the identification of its critical role in lipoprotein metabolism has rapidly led to the development of PCSK9 inhibition with monoclonal antibodies (mAbs). PCSK9 mAbs are already in limited clinical use and are the subject of major cardiovascular outcomes trials, which if universally positive could see much wider clinical application of these agents. Patients with familial hypercholesterolaemia are the most obvious candidates for these drugs, but other patients with elevated cardiovascular risk, statin intolerance or hyperlipoproteinaemia(a) may also benefit. Read More

    Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia
    Iran Biomed J 2017 07 23. Epub 2017 Jul 23.
    Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
    Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iranian population. Read More

    Association of Level of Proprotein Convertase Subtilisin/Kexin Type 9 with Intima-Media Thickness in Patients with Familial Hypercholesterolemia.
    Bull Exp Biol Med 2017 Jun 18;163(2):199-202. Epub 2017 Jul 18.
    Research Institute of Internal and Preventive Medicine, Novosibirsk, Russia.
    We studied association of PCSK9 protein with the carotid artery intima-media thickness in patients with familial hypercholesterolemia (N=53; age 49.9±6.9 years) treated with statins. Read More

    Heterozygous Familial Hypercholesterolemia With APOE Haplotype: A Prospective Harbinger of a Catastrophic Cardiovascular Event.
    Cardiol Res 2017 Jun 30;8(3):117-122. Epub 2017 Jun 30.
    Section of Cardiology, Atlantic Health System-Overlook Medical Center, Summit, NJ 07901 USA.
    We report a very young man with heterozygous familial hypercholesterolemia (FH) with APOE haplotype and a significant cardiac family history who underwent cardiac catheterization for intermittent episodes of exertional dyspnea and was noted to have a severe triple vessel coronary artery disease (CAD). He underwent coronary artery bypass graft (CABG) surgery which was uneventful. He was discharged on antiplatelet, beta blocker, nitrate, and statin. Read More

    Relationship between knowledge of cardiovascular disease risk factors and watching educational television materials. Małopolska CArdiovascular PReventive Intervention Study (M-CAPRI).
    Pol Arch Intern Med 2017 Jul 4. Epub 2017 Jul 4.
    INTRODUCTION    The current guidelines on cardiovascular disease (CVD) prevention in clinical practice emphasizes on education in media in population-based approaches. OBJECTIVES    To assess the relationship between knowledge of CVD risk factors and watching educational television materials in the adult population. PATIENTS AND METHODS    After 22 months of repeated broadcasting of educational television materials, which addressed problems related to CVD, a postal survey was conducted on a random sample of 5000 persons aged 18 years or older. Read More

    The prevalence of familial hypercholesterolemia in the West Siberian region of the Russian Federation: A substudy of the ESSE-RF.
    PLoS One 2017 18;12(7):e0181148. Epub 2017 Jul 18.
    National Research Center for Preventive Medicine, Moscow, Russia.
    Background: The prevalence of familial hypercholesterolemia (FH) in Russia has not previously been evaluated. The aim of our study was to investigate the prevalence of FH in the population of the West Siberian region of Russia, and then estimate the frequency of coronary artery disease (CAD) and treatment with cholesterol-lowering medication in FH patients.

    Methods: The sample of our study consisted of participants from the population-based cohort of The Epidemiology of Cardiovascular Risk Factors and Diseases in Regions of the Russian Federation Study (ESSE-RF), conducted in the Tyumen and Kemerovo regions (1,630 and 1,622 people, respectively, aged 25-64). Read More

    Effect of LDL cholesterol, statins and presence of mutations on the prevalence of type 2 diabetes in heterozygous familial hypercholesterolemia.
    Sci Rep 2017 Jul 17;7(1):5596. Epub 2017 Jul 17.
    Lipid and Vascular Unit, Department of Endocrinology and Nutrition, Hospital del Mar, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Patients with heterozygous familial hypercholesterolemia (HeFH) have been reported to be less vulnerable to type 2 diabetes mellitus (T2DM), although the mechanism is unknown. The aims of the present study were to assess the effects of low density lipoprotein (LDL) cholesterol concentration and the presence of FH-causing mutations on T2DM prevalence in HeFH. Data were collected from the Dyslipidemia Registry of the Spanish Arteriosclerosis Society. Read More

    Long-Term Efficacy and Safety of the Microsomal Triglyceride Transfer Protein Inhibitor Lomitapide in Patients With Homozygous Familial Hypercholesterolemia.
    Circulation 2017 Jul;136(3):332-335
    From University of Cape Town, South Africa (D.J.B.); Università di Palermo, Italy (M.R.A.); University of Pennsylvania, Philadelphia (E.A.M., D.J.R. M.C.); Netcare Private Hospital, Bloemfontein, South Africa (H.d.T.T.); Ospedale Niguarda, Milano, Italy (R.A.H.); University of Western Ontario, London, Canada (R.A.H.); Cedars-Sinai Heart Institute, Los Angeles, CA (P.K.S.); Université de Montreal, Chicoutimi, Quebec, Canada (D.G.); Università di Roma Sapienza, Italy (C.S.); Università di Ferrara, Italy (G.B.V.); CHRU Montpellier, France (D.L.); and Aegerion Pharmaceuticals, Cambridge, MA (L.T.B., P.F.).

    The Cost-effectiveness of Genetic Screening for Familial Hypercholesterolemia: a Systematic Review.
    Ann Ig 2017 Sep-Oct;29(5):464-480
    Department of Public Health and Infectious Diseases, Sapienza University of Rome, Italy.
    Background: Familial hypercholesterolemia (FH) is a genetic disorder that leads to elevated plasma LDL-cholesterol levels and premature coronary heart disease (CHD). An understanding of the mutations responsible for FH and the effectiveness of statins in lowering the risk of CHD in FH patients has increased interest in genetic screening strategies to improve FH diagnosis. In this study, we aimed to evaluate the cost-effectiveness of such strategies. Read More

    Impact of lipoprotein apheresis with dextran-sulfate adsorption on the expression of genes involved in cardiovascular health in the blood of patients with homozygous familial hypercholesterolemia.
    J Clin Apher 2017 Jul 16. Epub 2017 Jul 16.
    Institute on Nutrition and Functional Foods, Department of Medicine, Laval University, Québec, Canada.
    Lipoprotein apheresis (LA) with dextran sulfate adsorption (DSA) is a reliable method to decrease LDL-cholesterol (C) concentrations in patients with homozygous familial hypercholesterolemia (HoFH). The objective of the present study was to investigate the impact of LA with DSA on the mRNA expression of genes associated with cardiovascular health in the whole blood of HoFH patients. Blood samples were collected before and after LA treatment with DSA in 9 HoFH patients. Read More

    [PCSK-9 inhibitors, effects on LDL-C and future implications: What you should know].
    Hipertens Riesgo Vasc 2017 Jul 11. Epub 2017 Jul 11.
    Departamento de Medicina Interna, Departamento de Epidemiología Clínica y Bioestadística, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá D.C., Colombia.
    The discovery of proprotein convertase subtilisin/kexin type 9 (PCSK9) in 2003 in families with familial hypercholesterolemia (HF) later generated the development of pharmacological strategies in order to inhibit this protein. Twelve years after this discovery, the first two biological compounds (monoclonal antibodies) were approved, which have been shown to substantially decrease LDL-C and other lipid subfractions. The objective of the present article is to review the history of the discovery of PCSK9, its physiology and pathophysiology and subsequent pharmacological development. Read More

    Increasing proportion of ST elevation myocardial infarction patients with coronary atherosclerosis poorly explained by standard modifiable risk factors.
    Eur J Prev Cardiol 2017 Jan 1:2047487317720287. Epub 2017 Jan 1.
    1 Cardiothoracic and Vascular Health, Kolling Institute and Department of Cardiology, Royal North Shore Hospital, Northern Sydney Local Health District, Sydney, Australia.
    Aims Identification and management of the Standard Modifiable Cardiovascular Risk Factors (SMuRFs; hypercholesterolaemia, hypertension, diabetes and smoking) has substantially improved cardiovascular disease outcomes. However, cardiovascular disease remains the leading cause of death worldwide. Suspecting an evolving pattern of risk factor profiles in the ST elevation myocardial infarction (STEMI) population with the improvements in primary care, we hypothesized that the proportion of 'SMuRFless' STEMI patients may have increased. Read More

    Clinical Features and Gaps in the Management of Probable Familial Hypercholesterolemia and Cardiovascular Disease.
    Circ J 2017 Jul 12. Epub 2017 Jul 12.
    Clalit Health Services.
    Background: Familial hypercholesterolemia (FH) is associated with premature atherosclerotic cardiovascular disease (ASCVD). The introduction of potent therapeutic agents underlies the importance of improving clinical diagnosis and treatment gaps in FH.Methods and Results:A regional database of 1,690 adult patients with high-probability FH based on age-dependent peak-low-density lipoprotein cholesterol (LDL-C) cut-offs and exclusion of secondary causes of severe hypercholesterolemia, was examined to explore the clinical manifestations and current needs in the management of ASCVD, which was present in 248 patients (15%), of whom 83% had coronary artery disease (CAD); 19%, stroke; and 13%, peripheral artery disease. Read More

    Known and unknowns in the care of paediatric familial hypercholesterolaemia.
    J Lipid Res 2017 Jul 12. Epub 2017 Jul 12.
    Royal Perth Hospital, Australia.
    Familial hypercholesterolaemia (FH) is a common genetic disorder that causes elevated low-density lipoprotein (LDL)-cholesterol levels from birth. Untreated FH accelerates atherosclerosis and predisposes individuals to premature coronary artery disease (CAD) in adulthood. Mendelian randomization studies have demonstrated that LDL-cholesterol has both a causal and cumulative effect on the risk of CAD. Read More

    Lipid and lipoprotein reference values from 133,450 Dutch Lifelines participants: Age- and gender-specific baseline lipid values and percentiles.
    J Clin Lipidol 2017 Jun 1. Epub 2017 Jun 1.
    Department of Vascular Medicine, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; Department of Internal Medicine, Tergooi, Hilversum, the Netherlands.
    Background: Lipids and lipoproteins are recognized as the most important modifiable risk factors for cardiovascular disease. Although reference values for the major lipoproteins, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol, and triglycerides, have been collected in numerous studies and cohorts, complete contemporary percentile-based reference values are underreported.

    Objective: We set out to provide such reference lipid data using a large contemporary population-based cohort study. Read More

    Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
    J Thromb Haemost 2017 Jul 11. Epub 2017 Jul 11.
    Department of Hematology, Hospital Universitario de Salamanca-IBSAL-USAL, Salamanca, Spain.
    Essentials Diagnosis of sitosterolemia, a rare recessive or syndromic disorder, is usually delayed. Peripheral blood smear is extremely useful for establishing the suspicion of sitosterolemia. High-throughput sequencing technology enables the molecular diagnosis of inherited thrombocytopenias. Read More

    PCSK9 inhibitors for treating dyslipidemia in patients at different cardiovascular risk: a systematic review and a meta-analysis.
    Intern Emerg Med 2017 Jul 10. Epub 2017 Jul 10.
    Department of Medicine and Surgery, Research Center on Dyslipidaemia, University of Insubria, U.O. Medicina Interna 1, ASST Settelaghi, Viale Borri 57, 21100, Varese, Italy.
    Statin-induced lowering of low-density lipoprotein cholesterol (LDL-C) reduces cardiovascular morbidity and mortality, but many patients do not adequately reduce their LDL-C levels. Monoclonal antibodies targeting PCKS9 are currently in the advanced phase of development. We aimed to investigate the efficacy and safety of PCSK9 inhibitors in patients at different cardiovascular risk in a systematic review. Read More

    Evaluation of clinical and laboratory parameters used in the identification of index cases for genetic screening of familial hypercholesterolemia in Brazil.
    Atherosclerosis 2017 Aug 22;263:257-262. Epub 2017 Jun 22.
    Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil.
    Background And Aims: There is controversy on the accuracy of different diagnostic criteria for familial hypercholesterolemia (FH). The aim of this study is to assess the performance of different clinical criteria used to identify individuals for FH genetic cascade screening in Brazil.

    Methods: All index cases (IC) registered in the Hipercol Brasil program between 2011 and 2016 were analyzed. Read More

    Statins for children with familial hypercholesterolemia.
    Cochrane Database Syst Rev 2017 Jul 7;7:CD006401. Epub 2017 Jul 7.
    Mehiläinen Airport Health Centre, Vantaa and Finnish Institute of Occupational Health, Lappeenranta, Finland.
    Background: Familial hypercholesterolemia is one of the most common inherited metabolic diseases and is an autosomal dominant disorder meaning heterozygotes, or carriers, are affected. Those who are homozygous have severe disease. The average worldwide prevalence of heterozygous familial hypercholesterolemia is at least 1 in 500, although recent genetic epidemiological data from Denmark and next generation sequencing data suggest the frequency may be closer to 1 in 250. Read More

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