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    [Independent risk factors for severe cardiovascular events in male patients with gout: Results of a 7-year prospective study].
    Ter Arkh 2017 ;89(5):10-19
    V.A. Nasonova Research Institute of Rheumatology, Moscow, Russia; I.N. Sechenov First Moscow State Medical University, Ministry of Health of Russia, Moscow, Russia.
    Aim: To determine risk factors for severe cardiovascular (CV) events (CVEs) in male patients with crystal-verified gout.

    Subjects And Methods: 251 male patients with crystal-verified gout were prospectively followed up in 2003 to 2013. The mean follow-up period was 6. Read More

    A Rare Case Of Sigmoid Colon Perforation With Subsequent Psoas Abscess Collection With Extensive Involvement Of The Sartorius Muscle.
    BMJ Case Rep 2017 Jun 19;2017. Epub 2017 Jun 19.
    Radiology, Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, UK.
    A middle-aged man was admitted with worsening hip pain, fevers and reduced mobility. These symptoms were preceded by a mechanical fall but despite regular analgesia, symptoms did not resolve. His prior medical history included ischaemic heart disease, hypertension and hypercholesterolaemia. Read More

    Two Patients with Familial Hypercholesterolemia Who Were Successfully Weaned from Low-density Lipoprotein Apheresis after Treatment with Evolocumab.
    Intern Med 2017 15;56(12):1531-1535. Epub 2017 Jun 15.
    Kidney Disease Center, Japanese Red Cross Nagoya Daini Hospital, Japan.
    Two elderly patients (a 76-year-old man and a 75-year-old woman), who had been previously diagnosed with familial hypercholesterolemia (at 58 and 48 years of age, respectively) underwent long-term treatment with oral therapy and low-density lipoprotein (LDL) apheresis. As their LDL cholesterol levels remained high (>150 mg/dL and >120 mg/dL, respectively) and their familial hypercholesterolemia was complicated with angina pectoris, we added evolocumab to their prescription. Thereafter, their LDL cholesterol levels decreased rapidly, and the patients were successfully weaned from LDL apheresis. Read More

    Efficacy and safety of alirocumab in patients with hypercholesterolemia not adequately controlled with non-statin lipid-lowering therapy or the lowest strength of statin: ODYSSEY NIPPON study design and rationale.
    Lipids Health Dis 2017 Jun 17;16(1):121. Epub 2017 Jun 17.
    Department of Cardiovascular Medicine, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
    Background: Statins are generally well-tolerated and serious side effects are infrequent, but some patients experience adverse events and reduce their statin dose or discontinue treatment altogether. Alirocumab is a highly specific, fully human monoclonal antibody to proprotein convertase subtilisin/kexin type 9 (PCSK9), which can produce substantial and sustained reductions of low-density lipoprotein cholesterol (LDL-C).

    Methods: The randomized, double-blind, placebo-controlled, parallel-group, phase 3 ODYSSEY NIPPON study will explore alirocumab 150 mg every 4 weeks (Q4W) in 163 Japanese patients with hypercholesterolemia who are on the lowest-strength dose of atorvastatin (5 mg/day) or are receiving a non-statin lipid-lowering therapy (LLT) (fenofibrate, bezafibrate, ezetimibe, or diet therapy alone). Read More

    Effect of intensive LDL cholesterol lowering with PCSK9 monoclonal antibodies on tendon xanthoma regression in familial hypercholesterolemia.
    Atherosclerosis 2017 Jun 8;263:92-96. Epub 2017 Jun 8.
    Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón (IIS Aragón), Universidad de Zaragoza, CIBERCV, Zaragoza, Spain. Electronic address:
    Background And Aims: The effect of LDLc lowering with PCSK9 antibodies on tendon xanthomas (TX) is unknown.

    Methods: TX was measured in 24 heterozygous familial hypercholesterolemia (HeFH) cases and in 24 HeFH controls with or without PCSK9 inhibitors for at least one year.

    Results: Exposure to PCSK9 inhibitors in cases was 2. Read More

    Bioavailability of n-3 fatty acids from n-3-enriched foods and fish oil with different oxidative quality in healthy human subjects: a randomised single-meal cross-over study.
    J Nutr Sci 2016 28;5:e43. Epub 2016 Oct 28.
    Department of Health, Nutrition and Management, Faculty of Health Sciences, Oslo and Akershus University College of Applied Sciences, PO Box 4 St. Olavs plass, 0130 Oslo, Norway.
    Regular consumption of long-chain n-3 fatty acids (LC n-3 FA) reduces postprandial triacylglycerolaemia. Functional foods and supplements are alternative sources of LC n-3 FA; however, emulsification technologies, food matrices and altered lipid oxidation levels affect their bioavailability. Moreover, which functional foods are optimal LC n-3 FA carriers is unknown. Read More

    The elevation of plasma concentrations of apoB-48-containing lipoproteins in familial hypercholesterolemia is independent of PCSK9 levels.
    Lipids Health Dis 2017 Jun 15;16(1):119. Epub 2017 Jun 15.
    Institute of Nutrition and Functional Foods (INAF), 2440, Hochelaga Blvd, Pavillon des Services, Quebec City, G1V 0A6, Canada.
    Background: Previous studies have reported high plasma concentrations of both intestinal apolipoprotein (apo) B-48-containing lipoproteins and PCSK9 in subjects with familial hypercholesterolemia (FH). However, the extent to which LDL receptor deficiency and PCSK9 levels influence plasma apoB-48 concentrations in humans remains to be fully characterized. The objective of the study was to assess the independent association between FH, PCSK9 concentrations and plasma apoB-48 levels in a large cohort of genetically defined FH heterozygotes (HeFH) and homozygotes (HoFH). Read More

    Role of anti-PCSK9 antibodies in the treatment of patients with statin intolerance.
    Curr Med Chem 2017 Jun 16. Epub 2017 Jun 16.
    Polyclinic for Endocrinology, Diabetes and Preventive Medicine (PEDP), University of Cologne, Kerpener Str. 62, 50937 Cologne. Germany.
    Statin intolerance is usually defined as the inability of a patient to tolerate statin-treatment due to muscle-related complaints. While randomised trials show that these complaints occure with similar frequency in patients receiving placebo, namely in up to ~5% of the subjects, data from registries as well as clinical experience indicate a much higher frequency of up to ~30%. The lack of standard definition or of a diagnostic marker of statin intolerance confounds the problem. Read More

    Clinical and Genome-Wide Analysis of Cisplatin-Induced Peripheral Neuropathy in Survivors of Adult-Onset Cancer.
    Clin Cancer Res 2017 Jun 13. Epub 2017 Jun 13.
    University of Indiana.
    Purpose: Our purpose was to characterize the clinical influences, genetic risk factors, and gene mechanisms contributing to persistent cisplatin-induced peripheral neuropathy (CisIPN) in testicular cancer survivors (TCS).

    Experimental Design:

    TCS given cisplatin-based therapy completed the validated EORTC QLQ-CIPN20 questionnaire. An ordinal CisIPN phenotype was derived and associations with age, smoking, excess drinking, hypertension, body mass index, diabetes, hypercholesterolemia, cumulative cisplatin dose, and self-reported health were examined for 680 TCS. Read More

    Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics.
    Lipids Health Dis 2017 Jun 12;16(1):115. Epub 2017 Jun 12.
    Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, P.O. Box 1046, Blindern, 0317, Oslo, Norway.
    Background: There is a lack of comprehensive patient-datasets regarding prevalence of severe hypertriglyceridemia (sHTG; triglycerides ≥10 mmol/L), frequency of co-morbidities, gene mutations, and gene characterization in sHTG. Using large surveys combined with detailed analysis of sub-cohorts of sHTG patients, we here sought to address these issues.

    Methods: We used data from several large Norwegian surveys that included 681,990 subjects, to estimate the prevalence. Read More

    Lomitapide for the treatment of hypercholesterolemia.
    Expert Opin Pharmacother 2017 Jun 9. Epub 2017 Jun 9.
    a Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry , Western University , London , Ontario N6A 5B7.
    Introduction: Homozygous familial hypercholesterolemia (HoFH) is a serious rare inherited condition that leads to extremely elevated levels of low density lipoprotein cholesterol (LDL-C), and predisposes affected individuals to high risk of atherosclerotic vascular disease. Traditional therapies are largely ineffective in managing the hypercholesterolemia in these patients; diet and regular LDL-apheresis are the mainstays of management. Lomitapide is an inhibitor of microsomal triglyceride transfer protein (MTP) that blocks the assembly of metabolic precursors of LDL particles. Read More

    Improving Universal Pediatric Lipid Screening.
    J Pediatr 2017 Jun 5. Epub 2017 Jun 5.
    Department of Pediatrics, Division of Pediatric Cardiology, University of Wisconsin School of Medicine and Public Health, Madison, WI. Electronic address:
    Objective: To evaluate whether the release of national guidelines, electronic health record (EHR) modifications, and educational initiatives correlated with changes in pediatricians' universal lipid screening practices.

    Study Design: Retrospective review of EHRs in an academic general pediatric practice was performed to measure the prevalence of order placement. A child was "screened" if an order was placed during a well-visit between 9 and 21 years of age. Read More

    Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children with Heterozygous Familial Hypercholesterolemia: The CHARON Study.
    Circulation 2017 Jun 7. Epub 2017 Jun 7.
    Department of Clinical Epidemiology, Biostatistics and Bioinformatics Academic Medical Center, Amsterdam, The Netherlands
    Background -Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant disorder leading to premature atherosclerosis. Children with HeFH exhibit early signs of atherosclerosis, manifested by increased carotid intima-media thickness (IMT). In this study, we assessed the effect of 2-year treatment with rosuvastatin on carotid IMT in HeFH children. Read More

    Psychological issues and cognitive impairment in adults with familial hypercholesterolemia.
    Fam Pract 2017 Jun 6. Epub 2017 Jun 6.
    Universidad Católica del Uruguay, Av. 8 de Octubre 2738, CP 11600 Montevideo, Uruguay.
    A literature review about depression, anxiety, illness perception and neurocognitive impairment in adults with familial hypercholesterolemia (FH) was performed. Through PubMed and PsycINFO published studies from 1980 until March 2017 were searched. Two papers assessed depression and anxiety. Read More

    Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.
    Lipids Health Dis 2017 Jun 2;16(1):103. Epub 2017 Jun 2.
    Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo, 00800, Sri Lanka.
    Hypercholesterolemia is a strong determinant of mortality and morbidity associated with cardiovascular diseases and a major contributor to the global disease burden. Mutations in four genes (LDLR, APOB, PCSK9 and LDLRAP1) account for the majority of cases with familial hypercholesterolemia. However, a substantial proportion of adults with hypercholesterolemia do not have a mutation in any of these four genes. Read More

    [Familial hypercholesterolemia: A largely underestimated cardiovascular risk].
    Ann Cardiol Angeiol (Paris) 2017 May 30. Epub 2017 May 30.
    Hôpital européen Georges-Pompidou, 20, rue Leblanc, 75015 Paris, France. Electronic address:
    Background: Familial hypercholesterolemia is a monogenic autosomal dominant dyslipidemia characterized by a permanent and isolated increase of cholesterol carried by low-density lipoproteins. The prevalence of its heterozygous form is estimated between 1/500 and 1/250, and in the absence of specific treatment, this form is responsible for an increase by a factor of 13 of the risk of premature coronary artery disease compared to patients non-affected by the disease.

    Objectives: To perform an inventory of the knowledge of heterozygous familial hypercholesterolemia in France for physicians involved in the management of the disease. Read More

    Toward an international consensus-Integrating lipoprotein apheresis and new lipid-lowering drugs.
    J Clin Lipidol 2017 Apr 25. Epub 2017 Apr 25.
    Division of Clinical Pharmacology, Department of Internal Medicine, University of Kansas Medical Center, Kansas City, KS, USA.
    Background: Despite advances in pharmacotherapy of lipid disorders, many dyslipidemic patients do not attain sufficient lipid lowering to mitigate risk of atherosclerotic cardiovascular disease. Several classes of novel lipid-lowering agents are being evaluated to reduce atherosclerotic cardiovascular disease risk. Lipoprotein apheresis (LA) is effective in acutely lowering the plasma concentrations of atherogenic lipoproteins including low-density lipoprotein cholesterol and lipoprotein(a), and novel lipid-lowering drugs may dampen the lipid rebound effect of LA, with the possibility that LA frequency may be decreased, in some cases even be discontinued. Read More

    Association Between Endometriosis and Hypercholesterolemia or Hypertension.
    Hypertension 2017 Jul 30;70(1):59-65. Epub 2017 May 30.
    From the Department of Epidemiology (F.M., J.R.-E., E.B.R., D.S., S.A.M.), Department of Nutrition (E.B.R., D.S.), and Department of Biostatistics (D.S.), Harvard T.H. Chan School of Public Health, Boston, MA; Connors Center for Women's Health and Gender Biology, Brigham and Women's Hospital, Boston, MA (J.R.-E.); and Channing Division of Network Medicine, Department of Medicine (E.B.R., J.P.F., S.A.M.), Renal Division, Department of Medicine (J.P.F.), and Department of Obstetrics, Gynecology, and Reproductive Biology (S.A.M.), Brigham and Women's Hospital and Harvard Medical School, Boston, MA.
    An altered hormonal or chronic systemic inflammatory milieu characterizing endometriosis may result in a higher risk of hypercholesterolemia and hypertension. Conversely, elevated low-density lipoprotein in hypercholesterolemia and chronic systemic inflammation resulting from hypertension may increase the risk of endometriosis. We assessed the association of laparoscopically confirmed endometriosis with hypercholesterolemia and hypertension in a large prospective cohort study. Read More

    The emerging role of proprotein convertase subtilisin/kexin type-9 inhibition in secondary prevention: from clinical trials to real-world experience.
    Curr Opin Cardiol 2017 May 26. Epub 2017 May 26.
    aCambridge Cardiac Care Centre, Cambridge bDepartment of Medicine, McMaster University, Hamilton cLMC Diabetes & Endocrinology, Brampton dLeadership Sinai Centre for Diabetes, Mount Sinai Hospital eDepartment of Internal Medicine, University of Toronto, Toronto fUniversity of Western Ontario, London, Ontario, Canada gCenter for Healthcare Delivery Sciences, Brigham and Women's Hospital, Harvard University Medical School, Boston, Massachusetts, USA hDivision of Cardiac Surgery, Keenan Research Centre for Biomedical Science, Li Ka Shing Knowledge Institute of St. Michael's Hospital iDepartments of Surgery, Pharmacology and Toxicology, University of Toronto, Toronto, Ontario, Canada.
    Purpose Of Review: The recent advent of a highly efficacious class of low-density lipoprotein cholesterol (LDL-C) lowering agents, the proprotein convertase subtilisin/kexin type-9 (PCSK9) inhibitors, has transformed dyslipidaemia management in patients with cardiovascular disease as well as those with familial hypercholesterolemia.

    Recent Findings: Recent positive results of the landmark Further Cardiovascular Outcomes Research with PCSK9 Inhibition in Subjects with Elevated Risk cardiovascular outcome trial with evolocumab as an add-on to statin therapy demonstrate further reduction of cardiovascular events. Additional safety outcomes from this large randomized trial, as well as the EBBINGHAUS substudy, allay fears of neurocognitive disorder as an adverse effect of achieving very low LDL-C levels with these agents. Read More

    Statin intolerance in heterozygous familial hypercolesterolemia with cardiovascular disease: After PCSK-9 antibodies what else?
    Eur J Prev Cardiol 2017 Jan 1:2047487317712419. Epub 2017 Jan 1.
    1 U.O. Lipoapheresis and Center for Inherited Dyslipidemias, Fondazione Toscana Gabriele Monasterio, Italy.
    Background Familial hypercholesterolemia is the elective clinical condition that deserves the maximal personalisation in lipid-lowering therapy, especially in the presence of statin intolerance. Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors represent a promising approach to lower low-density lipoprotein (LDL) cholesterol. Methods We enrolled 18 patients (mean age 62 ± 8 years, 72% men) affected by heterozygous familial hypercholesterolemia and cardiovascular disease, with a history of statin intolerance assigned to PCSK9 inhibitors. Read More

    [Congenital disorders of lipoprotein metabolism].
    Herz 2017 May 29. Epub 2017 May 29.
    Medizinische Klinik V (Nephrologie, Hypertensiologie, Rheumatologie, Endokrinologie, Diabetologie), Medizinische Fakultät Mannheim der Universität Heidelberg, Mannheim, Deutschland.
    Congenital disorders of lipid metabolism are caused by a wide range of variants of the genes for receptors, apolipoproteins, enzymes, transfer factors, and cellular cholesterol transporters. Clinically most relevant are autosomal dominant familial hypercholesterolemia (FH) and familial combined hyperlipoproteinemia (FCHL). FH has a prevalence of 1:250. Read More

    When do paediatric patients with familial hypercholesterolemia need statin therapy?
    Dev Period Med 2017 ;21(1):43-50
    Department and Clinic of Pediatric Diabetology and Endocrinology, Medical University of Gdańsk.
    Introduction: Familial hypercholesterolemia (FH) is one of the most common autosomal dominant disorders. It is characterized by elevated LDL cholesterol levels occurring already by early childhood. Awareness of health risks in FH patients should incite health professionals to actively seek and treat children with lipid disorders to reduce their risk of myocardial infarction and stroke. Read More

    Barriers to PCSK9 inhibitor prescriptions for patients with high cardiovascular risk: Results of a healthcare provider survey conducted by the National Lipid Association.
    J Clin Lipidol 2017 May 23. Epub 2017 May 23.
    Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
    Background: Statin therapy is recommended for reducing atherosclerotic cardiovascular disease (ASCVD) risk. Significant risk can remain because of insufficient clinical response or statin intolerance. Proprotein convertase subtilisin/kexin type-9 (PCSK9) therapy lowers low-density lipoprotein cholesterol and has recently been shown to lower ASCVD events. Read More

    Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.
    Atherosclerosis 2017 May 13. Epub 2017 May 13.
    Centre for Cardiovascular Genetics, University College London, The Rayne Institute, University Street, London, WC1E 6JF, UK. Electronic address:
    Background And Aims: Familial hypercholesterolemia (FH) is a common inherited disorder of low density lipoprotein-cholesterol (LDL-C) metabolism. It is associated with higher risk of premature coronary heart disease. Around 60% of patients with a clinical diagnosis of FH do not have a detectable mutation in the genes causing FH and are most likely to have a polygenic cause for their raised LDL-C. Read More

    [Genetic testing in polygenic diseases : Atrial fibrillation, arterial hypertension and coronary artery disease].
    Herz 2017 May 23. Epub 2017 May 23.
    Deutsches Herzzentrum München, Klinik für Herz- und Kreislauferkrankungen, Technische Universität München, Lazarettstr. 36, 80636, München, Deutschland.
    Genetic testing plays an increasing role in cardiovascular medicine. Advances in technology and the development of novel and more affordable (high throughput) methods have led to the identification of genetic risk factors in research and clinical practice. Also, this progress has simplified the screening of patients and individuals at risk. Read More

    MicroRNAs: New Therapeutic Targets for Familial Hypercholesterolemia?
    Clin Rev Allergy Immunol 2017 May 22. Epub 2017 May 22.
    Biotechnology Research Center, Mashhad University of Medical Sciences, Mashhad, 9177948564, Iran.
    Familial hypercholesterolemia (FH) is the most common inherited form of dyslipidemia and a major cause of premature cardiovascular disease. Management of FH mainly relies on the efficiency of treatments that reduce plasma low-density lipoprotein (LDL) cholesterol (LDL-C) concentrations. MicroRNAs (miRs) have been suggested as emerging regulators of plasma LDL-C concentrations. Read More

    Metabolic parameters and responsiveness of isolated iliac artery in LDLr(-/-) mice: role of aerobic exercise training.
    Am J Cardiovasc Dis 2017 15;7(2):64-71. Epub 2017 Apr 15.
    School of Physical Education and Sport of Ribeirão Preto, University of São Paulo, SPBrazil.
    Physical inactivity and dyslipidemia are considered risk factors for cardiovascular diseases. There are few studies evaluating the effects of physical exercise in small-caliber artery in a model that mimics familial hypercholesterolemia. The aim of this study was to examine the effect of exercise training, at moderate intensity, on metabolic parameters and iliac artery responsiveness in LDL(-/-) mice. Read More

    Update on the use of PCSK9 inhibitors in adults: Recommendations from an Expert Panel of the National Lipid Association.
    J Clin Lipidol 2017 May 19. Epub 2017 May 19.
    NYU School of Medicine & NYU Center for Prevention of Cardiovascular Disease, New York, NY, USA.
    An Expert Panel convened by the National Lipid Association was charged with updating the recommendations on the use of proprotein convertase subtilisin/kexin type 9 (PCSK9) antibody therapy that were provided by the 2015 National Lipid Association Recommendations for the Patient-Centered Management of Dyslipidemia: Part 2. Recent studies have demonstrated the efficacy of these agents in reducing low-density lipoprotein cholesterol and non-high-density lipoprotein cholesterol and have confirmed their excellent safety profile. A cardiovascular outcomes study has shown that these agents reduce incident atherosclerotic cardiovascular disease (ASCVD) events in patents with stable ASCVD and concomitant risk factors. Read More

    How many familial hypercholesterolemia patients are eligible for PCSK9 inhibition?
    Atherosclerosis 2017 Jul 12;262:107-112. Epub 2017 May 12.
    Unidad de Lípidos, Hospital Universitario Miguel Servet, IIS Aragón, CIBERCV, Universidad de Zaragoza, Zaragoza, Spain.
    Background And Aims: Familial hypercholesterolemia (FH) is a high cardiovascular risk condition. Less than 20% of patients achieve the LDL targets. Although PCSK9 inhibitors improve control and reduce cardiovascular events, official recommendations for their use are restrictive. Read More

    Mediterranean lifestyle and cardiovascular disease prevention.
    Cardiovasc Diagn Ther 2017 Apr;7(Suppl 1):S39-S47
    Department of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, Athens, Greece.
    Background: Adherence to a Mediterranean dietary pattern is a well-established protective factor against cardiovascular disease (CVD). However, diet quality is only one aspect of the overall healthy lifestyle adopted by Mediterranean populations. The latter has never been evaluated as a multi-factorial composite lifestyle. Read More

    Advances in dyslipidemia management for prevention of atherosclerosis: PCSK9 monoclonal antibody therapy and beyond.
    Cardiovasc Diagn Ther 2017 Apr;7(Suppl 1):S11-S20
    California Heart Associates, Fountain Valley, California, USA.
    In 2003, select families with familial hypercholesterolemia were first identified to have gain-of-function mutations for proprotein convertase subtilisin kexin type 9 (PCSK9) followed, in 2006, by the identification of those with lifelong low levels of LDL-C and lowered atherosclerotic cardiovascular disease (ASCVD) risk who had loss-of-function PCSK9 mutations. These discoveries led to the rapid development of PSCK9-targeted monoclonal antibody (PCSK9 mAb) therapies and, in 2015, 2 'fully-humanized' PCSK9 mAbs (alirocumab and evolocumab) were marketed in the United States, Europe, and other countries. In a wide range of high risk patients, with and without ASCVD, these PCSK9 mAbs, as once or twice monthly subcutaneous injections, potently reduce LDL-C 50-65% beyond levels achieved by maximally tolerated statin therapy; approximately one-third of patients achieve LDL-C levels <25 mg/dL. Read More

    Dyslipidemia management update.
    Curr Opin Pharmacol 2017 Apr 17;33:47-55. Epub 2017 May 17.
    East Carolina University, Brody School of Medicine, Department of Pharmcology and Toxicology, Greenville, NC 27834, USA.
    Association of hypercholesterolemia and atherosclerotic cardiovascular disease (ASCVD) is well established. Reducing low-density lipoprotein-cholesterol (LDL-C) and raising high-density lipoprotein-cholesterol (HDL-C) have been the therapeutic targets to reduce the risk of ASCVD. Cholesterol-lowering medications have been used to provide both primary and secondary prevention of ASCVD for many years by reducing the absorption and reabsorption, promoting excretion, or decreasing the synthesis of cholesterol. Read More

    Recent advances in genetic testing for familial hypercholesterolemia.
    Expert Rev Mol Diagn 2017 Jul 29;17(7):641-651. Epub 2017 May 29.
    a Departments of Medicine and Biochemistry, Schulich School of Medicine and Dentistry , Western University , London , Canada.
    Introduction: Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary heart disease that is widely underdiagnosed and undertreated. To improve the identification of FH and initiate timely and appropriate treatment strategies, genetic testing is becoming increasingly offered worldwide as a central part of diagnosis. Areas covered: Recent advances have been propelled by an improved understanding of the genetic determinants of FH together with substantially reduced costs of appropriate screening strategies. Read More

    2017 Position Paper of the Italian Society for Cardiovascular Prevention (SIPREC) for an Updated Clinical Management of Hypercholesterolemia and Cardiovascular Risk: Executive Document.
    High Blood Press Cardiovasc Prev 2017 May 18. Epub 2017 May 18.
    Division of Cardiology, Department of Advanced Biomedical Sciences, Hypertension Research Centre, University of Napoli "Federico II", Naples, Italy.
    The benefits achieved by implementing cardiovascular prevention strategies in terms of reduced incidence of atherosclerotic diseases and mortality are accepted, worldwide. In particular, the clinical management of hypercholesterolemia has a fundamental role for all preventive strategies, both in primary and secondary prevention, at each stage of cardiovascular risk. Since the net clinical benefit of lipid-lowering therapy largely depends on baseline individual cardiovascular risk profile, the assessment of individual risk is essential to establish type and intensity of both preventive and therapeutic strategies. Read More

    Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
    Atherosclerosis 2017 Jul 4;262:71-77. Epub 2017 May 4.
    Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:
    Background And Aims: Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive hypercholesterolemia (ARH) or sitosterolemia, depending on the transmission of hypercholesterolemia in the patient's family. Sitosterolemia is a recessive disorder characterized by high plasma levels of cholesterol and plant sterols due to mutations in the ABCG5 or the ABCG8 gene, leading to a loss of function of the ATP-binding cassette (ABC) heterodimer transporter G5-G8.

    Methods: We aimed to perform the molecular characterization of two children with severe primary hypercholesterolemia. Read More

    Case 242: Radiation-induced Angiosarcoma.
    Radiology 2017 Jun;283(3):909-916
    From the Department of Diagnostic Radiology, Michigan State University/Beaumont Hospital-Dearborn, 18101 Oakwood Blvd, Dearborn, MI 48183 (M.D.); Knoxville Comprehensive Breast Center, Knoxville, Tenn (K.F.K.); and Drs. Harris, Birkhill, Wang, Songe and Associates, Beaumont Breast Care Center-Wayne, Wayne, Mich (J.M.K.).
    History In 2004, this woman received a diagnosis of invasive mammillary carcinoma, tubular variant, strongly positive for estrogen and progesterone receptors. Her lesion was found at screening mammography performed at an outside institution when she was 59 years old. She underwent partial mastectomy, with partial axillary node dissection and sentinel node mapping. Read More

    Balancing Low-density Lipoprotein Cholesterol Reduction and Hepatotoxicity With Lomitapide Mesylate and Mipomersen in Patients With Homozygous Familial Hypercholesterolemia.
    Rev Cardiovasc Med 2017 ;18(1):21-28
    Baylor University Medical Center, Baylor Jack and Jane Hamilton Heart and Vascular Hospital, Baylor Heart and Vascular Institute, Dallas, TX; The Heart Hospital, Plano, TX.
    Homozygous familial hypercholesterolemia (HoFH) is an autosomal codominant disorder manifested by high concentrations of total cholesterol and low-density lipoprotein (LDL) cholesterol, and premature cardiovascular disease. Despite conventional lipid-lowering therapy, LDL cholesterol levels remain elevated in patients with HoFH; these patients are considered to be at high risk for cardiovascular events. In 2012-2013, two drugs with novel mechanisms of action were approved by the US Food and Drug Administration for the treatment of HoFH: lomitapide mesylate and mipomersen. Read More

    HDL abnormalities in familial hypercholesterolemia: Focus on biological functions.
    Prog Lipid Res 2017 May 12;67:16-26. Epub 2017 May 12.
    Biotechnology Research Center, Mashhad University of Medical Sciences, Mashhad 9177948564, Iran. Electronic address:
    Although a selective strong elevation in the plasma level of low-density lipoprotein (LDL) cholesterol is the hallmark of familial hypercholesterolemia (FH), also other plasma lipoprotein and lipid subspecies are changed in these patients. Several studies in FH patients have pointed to the qualitative abnormalities of high-density lipoprotein (HDL) particles, including their triglyceride and sphingomyelin enrichment, reduced capacity to promote cholesterol efflux from macrophages, impaired anti-inflammatory and anti-oxidant activities, and reduced plasma levels of miRs regulating HDL-dependent cholesterol efflux from macrophage foam cells, typical of atherosclerotic lesions. Thus, accurate understanding of HDL functionality and its disturbances in FH may serve a better estimation of the prognosis and also provide additional clues when searching for novel therapeutic choices in this disease. Read More

    Proprotein convertase subtilisin/kexin 9 inhibition in patients with familial hypercholesterolemia: Initial clinical experience.
    J Clin Lipidol 2017 May - Jun;11(3):674-681. Epub 2017 Mar 7.
    Pharmacology, Vascular and Metabolic Diseases Section, Department of Internal Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands.
    Background: Despite optimal lipid-lowering therapy, a minority of patients with familial hypercholesterolemia (FH) reach low-density lipoprotein cholesterol (LDL-c) target goals. In randomized trials, proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors led to impressive LDL-c reductions and a favorable safety profile. However, data about the efficacy and safety outside clinical trials are not available yet. Read More

    Managing the challenging homozygous familial hypercholesterolemia patient: Academic insights and practical approaches for a severe dyslipidemia, a National Lipid Association Masters Summit.
    J Clin Lipidol 2017 May - Jun;11(3):602-616. Epub 2017 Apr 5.
    Department of Clinical Pharmacology, Atherosclerosis/Lipoprotein-Apheresis Center, University of Kansas Medical Center, Kansas City, KS, USA.
    The following article represents material presented and discussed at a symposium hosted by the National Lipid Association hosted entitled "Managing the Challenging Homozygous Familial Hypercholesterolemia Patient-Academic Insights and Practical Approaches for a Severe Dyslipidemia" on November 7, 2015 in Orlando, FL. Presenters included G.K. Read More

    Detecting familial hypercholesterolemia: The Jack and the Beanstalk principle.
    J Clin Lipidol 2017 Mar - Apr;11(2):575-578. Epub 2017 Feb 22.
    School of Medicine, University of Western Australia, Perth, Western Australia, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Royal Perth Hospital, Perth, Western Australia, Australia.
    We report the case of an 8-year-old girl who was fortuitously diagnosed with familial hypercholesterolemia (FH) while being investigated for obesity. She had a fasting total cholesterol of 11.8 mmol/L and a low-density lipoprotein cholesterol level of 10. Read More

    Functional analysis of new 3' untranslated regions genetic variants in genes associated with genetic hypercholesterolemias.
    J Clin Lipidol 2017 Mar - Apr;11(2):532-542. Epub 2017 Feb 28.
    Departamento de Biología Molecular, Facultad de Medicina, Universidad de Cantabria, and Instituto de Investigacion Valdecilla (IDIVAL), Santander, Cantabria, Spain. Electronic address:
    Background: Familial hypercholesterolemia (FH) is the best-described autosomal dominant genetic hypercholesterolemia (GH). Mutations in candidate genes can explain a high proportion of FH cases, but for many, no causative mutations are detected (designed non-FG-GH), suggesting the existence of additional genetic variants associated with the disease.

    Objective: We aimed to identify new single-nucleotide variants (SNVs) located at the 3' untranslated regions (3'UTRs) of the low-density lipoprotein receptor, low-density lipoprotein receptor-related protein-associated protein 1, ATP-binding cassette sub-family G member 5, and sterol regulatory element-binding protein 2 genes in non-FH-GH individuals and investigated whether the association of these SNVs with non-FH-GH could be explained by changes in the affinity of regulatory microRNAs (miRNA) targeting the sequences modified by the SNVs. Read More

    Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.
    J Clin Lipidol 2017 Mar - Apr;11(2):524-531. Epub 2017 Feb 28.
    Laboratorio de Lípidos y Aterosclerosis, Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Universidad de Buenos Aires, Buenos Aires, Argentina; Universidad de Buenos Aires, Instituto de Fisiopatologia y Bioquímica Clinica, INFIBIOC, Buenos Aires, Argentina.
    Background: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol and early cardiovascular disease. As cardiovascular disease is a leading cause of mortality in Argentina, early identification of patients with FH is of great public health importance.

    Objective: The aim of our study was to identify families with FH and to approximate to the characterization of the genetic spectrum mutations of FH in Argentina. Read More

    Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia.
    J Clin Lipidol 2017 Mar - Apr;11(2):507-514. Epub 2017 Feb 27.
    Department of Internal Medicine, Erasmus Medical Centre, Erasmus University of Rotterdam, Rotterdam, The Netherlands.
    Background: Patients with autosomal dominant hypercholesterolemia (ADH), caused by mutations in either low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin-kexin type 9 (PCSK9) are characterized by high low-density lipoprotein cholesterol levels and in some studies also high lipoprotein(a) (Lp(a)) levels were observed. The question remains whether this effect on Lp(a) levels is gene-dose-dependent in individuals with either 0, 1, or 2 LDLR or APOB mutations.

    Objective: We set out to study whether Lp(a) levels differ among bi-allelic ADH mutation carriers, and their relatives, in the Netherlands. Read More

    Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?
    J Clin Lipidol 2017 Mar - Apr;11(2):477-484.e2. Epub 2016 Nov 17.
    Unidade I&D, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, Portugal; University of Lisboa, Faculty of Sciences, BioISI-Biosystems & Integrative Sciences Institute, Campo Grande, Lisboa, Portugal. Electronic address:
    Background: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD.

    Objective: The aim of this study was to investigate LALD in individuals with severe dyslipidemia and/or liver steatosis. Read More

    Mature proprotein convertase subtilisin/kexin type 9, coronary atheroma burden, and vessel remodeling in heterozygous familial hypercholesterolemia.
    J Clin Lipidol 2017 Mar - Apr;11(2):413-421.e3. Epub 2017 Jan 18.
    Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Centre, Suita, Japan.
    Background: Proprotein convertase subtilisin/kexin type 9 (PCSK9), an important contributor to low-density lipoprotein metabolism in heterozygous familial hypercholesterolemia (HeFH), exhibits direct proatherogenic effects. PCSK9 circulates as mature and furin-cleaved forms, which differ in its biological activity. However, it remains to be elucidated whether each PCSK9 subtype has different atherogenic properties. Read More

    The 9p21.3 locus and cardiovascular risk in familial hypercholesterolemia.
    J Clin Lipidol 2017 Mar - Apr;11(2):406-412. Epub 2017 Feb 2.
    Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Québec, Canada; Division of Experimental Medicine, Department of Medicine, McGill University, Québec, Canada; Division of Medical Biochemistry, Department of Medicine, McGill University, Québec, Canada. Electronic address:
    Background: Carrying a risk variant in the 9p21.3 locus represents one of the strongest genetic risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population. However, the effect of these polymorphisms in patients with familial hypercholesterolemia (FH) has never been studied. Read More

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