12,455 results match your criteria Hyperlipoproteinemia


Phloroglucinol averts isoprenaline hydrochloride induced myocardial infarction in rats.

Drug Dev Res 2019 Mar 19. Epub 2019 Mar 19.

Department of Cardiology, The Second Affiliated Hospital of Xi'an Jiaotong University, No 157 Xiwulu,Xincheng District, Xi'an City, Shaanxi Province, China.

Myocardial infarction (MI) is indicated by the symptoms like sharp chest pain, sweating, palpitations, and nervousness finally leading to heart attack. MI occurs mainly due to the risk factors like smoking, elevated blood pressure, diabetes, hypercholesterolemia, obesity, decreased HDL level, elevated LDL level, hyperlipoproteinemia and aging consequently leads to demandable coronary blood supply, oxidative stress, and acute necrosis of the myocardium. Cardioprotective potential of the phloroglucinol (PG) was assessed by treating isoprenaline hydrochloride (ISO; 85 mg/kg b. Read More

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http://dx.doi.org/10.1002/ddr.21517DOI Listing
March 2019
2 Reads

Role of LDL apheresis in a case of homozygous familial hypercholesterolemia.

Drug Discov Ther 2019 ;13(1):59-61

Department of Medicine, All India Institute of Medical Sciences.

Familial hypercholesterolemia (FH) is a form of primary hyperlipoproteinemia characterized by the presence of high concentrations of serum low density lipoprotein (LDL) cholesterol, increased tendency to form xanthomas and early onset of coronary artery disease. This disease is an autosomal dominant disorder caused by defects in the gene that encode for the LDL receptor. Homozygous familial hypercholesterolemia is a rare occurrence and here we report a case of an 18-year-old girl with familial hypercholesterolemia treated with anti-lipidemic drugs and controlled only with LDL apheresis. Read More

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http://dx.doi.org/10.5582/ddt.2019.01001DOI Listing
January 2019
1 Read

Lipoprotein(a) and mortality-a high risk relationship.

Clin Res Cardiol Suppl 2019 Mar 5. Epub 2019 Mar 5.

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 (ASCVD). Early or progressive ASCVD or a familial predisposition are key findings which can be associated with Lp(a)-hyperlipoproteinemia (Lp(a)-HLP). The German guideline for the indication of lipoprotein apheresis in patients with Lp(a)-HLP has proved to be of value to identify patients at highest risk, using the composite of a Lp(a) threshold >60 mg/dl (>120 nmol/l) and clinical ASCVD progression despite effective LDL-C lowering therapy. Read More

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http://dx.doi.org/10.1007/s11789-019-00095-3DOI Listing
March 2019
2 Reads

Triggers of histologically suspected drug-induced colitis.

World J Gastroenterol 2019 Feb;25(8):967-979

Institute of Pathology, Ruhr-University Bochum, Bochum 44789, Germany.

Background: Drug toxicity is a common and even serious problem in the gastrointestinal tract that is thought to be caused by a broad spectrum of agents. Although withdrawal of the causative agent would cure the disease knowledge is scarce and mostly derives from case reports and series.

Aim: To investigate potential triggers of drug-induced colitis (DiC). Read More

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http://dx.doi.org/10.3748/wjg.v25.i8.967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6397729PMC
February 2019
4 Reads

Real-world study: Escalating targeted lipid-lowering treatment with PCSK9-inhibitors and lipoprotein apheresis.

J Clin Apher 2019 Feb 28. Epub 2019 Feb 28.

Apheresis Research Institute, Cologne, Germany.

Introduction: Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibition with monoclonal antibodies has complemented the armamentarium of lipid-lowering therapy (LLT) before the final step of commencing chronic lipoprotein apheresis (LA). Data are scarce on patients who, after escalation of LLT with PCSK9 antibodies, have commenced chronic LA or PCSK9 antibody treatment during ongoing long-term LA.

Patients And Methods: In this study, a cohort of 110 patients with established atherosclerotic cardiovascular disease (ASCVD) due to hypercholesterolemia or concomitant lipoprotein(a)-hyperlipoproteinemia, who received PCSK9 antibodies for the first time during routine care, were consecutively identified. Read More

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http://dx.doi.org/10.1002/jca.21695DOI Listing
February 2019
1 Read

Hyperlipoprotein(a) in patients with spondyloarthritis: results of the Cardiovascular in Rheumatology (CARMA) project.

Clin Exp Rheumatol 2019 02 15. Epub 2019 Feb 15.

Epidemiology, Genetics & Atherosclerosis Res. Group on Systemic Inflammatory Diseases, Rheumatology Div., Hosp. Univ. Marqués de Valdecilla, IDIVAL, Univ. of Cantabria, Santander, Spain, and Univ. of the Witwatersrand, Johannesburg, South Africa.

Objectives: Cardiovascular (CV) disease is one of the main causes of morbi-mortality in spondyloarthritis (SpA), partially explained by traditional CV risk factors. Information on lipoprotein(a) [Lp(a)], a non-conventional risk factor, in SpA is scarce. In this study we assessed the prevalence of hyperlipoproteinaemia(a) in SpA patients and analysed the possible related factors. Read More

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February 2019
2 Reads

Activation of Lipid Mediator Formation Due to Lipoprotein Apheresis.

Nutrients 2019 Feb 9;11(2). Epub 2019 Feb 9.

Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Medical Department, Division of Hepatology and Gastroenterology (including Metabolic Diseases), Campus Virchow Klinikum, 13353 Berlin, Germany.

Lipoprotein apheresis reliably reduces low-density lipoprotein (LDL) cholesterol in patients with atherosclerotic disease and therapy-refractory hypercholesterolemia or elevated lipoprotein (a) (Lp(a)). Besides lowering lipoproteins and triglycerides, apheresis also decreases levels of essential omega-6 and omega-3 polyunsaturated fatty acids (6 and 3 PUFAs) in blood plasma. In contrast, heparin-induced extracorporeal low-density lipoprotein precipitation (HELP) lipid apheresis might increase the formation of potentially pro-inflammatory and pro-thrombotic lipid mediators derived from 6 and 3 PUFAs. Read More

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http://www.mdpi.com/2072-6643/11/2/363
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http://dx.doi.org/10.3390/nu11020363DOI Listing
February 2019
6 Reads

[Clinical biochemistry methods in objectiva evalution of overeating foood of carnivores (meat) by a phylogenetically herbivorous homo sapiens (a patient).]

Klin Lab Diagn 2018;63(6):324-332

FGBNU "Research Institute of General Pathology and Pathophysiology", Academy of Sciences of the Russian Federation, 125315, Moscow.

The abuse of food of carnivores (meat) by phylogeneticallyI herbivorous Homo sapiens (a patient) initiates atherosclerosis. Addressing biogenetic law of E. Haeckel that ontogeny recapitulates phylogeny (a universal anamnesis), we suggest a diagnostic technique that allows evaluation of the meat diet abuse by a herbivorous Homo sapiens. Read More

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http://dx.doi.org/10.18821/0869-2084-2018-63-6-324-332DOI Listing
January 2018
2 Reads

Screening of familial hypercholesterolemia among patients in age under 40 years old exposed by duplex scanning of carotid arteries, by the local registry data.

Ter Arkh 2018 Sep;90(9):37-41

Federal State Budgtary Institution "United Hospital with a Polyclinic" of the Department of Presidential Affairs of the Russian Federation, Moscow, Russia.

Aim: To identify patients with probable FH among Duplex-2013 registry patients under the age of 40 years, to analyze their lipid spectrum and duplex carotid artery data, to evaluate the changes of their lipid spectrum parameters.

Materials And Methods: The Duplex-2013 registry database was used for this study (n=2550). Patients under the age of 40 years were selected for follow-up analysis (n=192). Read More

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http://dx.doi.org/10.26442/terarkh201890937-41DOI Listing
September 2018

Deciphering the role of V200A and N291S mutations leading to LPL deficiency.

Atherosclerosis 2019 Mar 20;282:45-51. Epub 2019 Jan 20.

Department of Molecular and Clinical Medicine, The Sahlgrenska Academy at the University of Gothenburg, Göteborg, Sweden. Electronic address:

Background And Aims: Type I hyperlipoproteinemia is an autosomal recessive disorder of lipoprotein metabolism caused by mutations in the LPL gene, with an estimated prevalence in the general population of 1 in a million. In this work, we studied the molecular mechanism of two known mutations in the LPL gene in ex vivo and in vitro experiments and also the effect of two splice site mutations in ex vivo experiments.

Methods: Two patients with hypertriglyceridemia were selected from the Lipid Clinic in Vienna. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2019.01.004DOI Listing
March 2019
3 Reads

A young Chinese man with nephrotic syndrome due to lipoprotein glomerulopathy.

J Clin Lipidol 2018 Dec 19. Epub 2018 Dec 19.

Department of Medicine, University of Hong Kong, Queen Mary Hospital, Hong Kong. Electronic address:

Lipoprotein glomerulopathy (LPG) is a rare autosomal dominant renal disease with incomplete penetrance, associated with specific protein-modifying mutations in the APOE gene. LPG is associated with poor renal prognosis, in which lipoprotein thrombi are seen in the glomerular capillaries. Dyslipidemia in LPG generally resembles type III hyperlipoproteinemia with elevated serum apolipoprotein E level. Read More

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http://dx.doi.org/10.1016/j.jacl.2018.12.004DOI Listing
December 2018
9 Reads

Screening of common genetic variants in the APOB gene related to familial hypercholesterolemia in a Saudi population: A case-control study.

Medicine (Baltimore) 2019 Jan;98(4):e14247

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.

Familial hypercholesterolemia (FH) is a monogenic dominant inherited disorder of lipid metabolism characterized by elevated low-density lipoprotein levels, and is mainly attributable to mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proportein convertase subtilisin/kexin type 9 (PCSK9) genes. Next-generation and exome sequencing studies have primarily involved genome-wide association analyses, and meta-analyses and next-generation studies examined a few single-nucleotide polymorphisms (rs151009667 and Val2095Glu) in the ApoB gene. The present study was conducted to investigate the association of APOB and patients with FH in a Saudi population. Read More

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http://dx.doi.org/10.1097/MD.0000000000014247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358331PMC
January 2019
14 Reads

[Cardiovascular comorbidities in rheumatoid arthritis].

Z Rheumatol 2019 Jan 17. Epub 2019 Jan 17.

Gemeinschaftspraxis für Rheumatologie, Nürnberg, Deutschland.

Approximately 80% of patients with rheumatoid arthritis (RA) suffer from comorbidities including more than 50% from cardiovascular (CV) diseases. Inflammatory activity is the main factor connecting RA with atherosclerosis, coronary heart disease, stroke, thromboembolic events and heart failure. Altogether these affect RA patients twice as frequently as the general population and CV events are the major cause of death in RA. Read More

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http://link.springer.com/10.1007/s00393-018-0584-5
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http://dx.doi.org/10.1007/s00393-018-0584-5DOI Listing
January 2019
9 Reads

Chylomicronemia: Differences between familial chylomicronemia syndrome and multifactorial chylomicronemia.

Atherosclerosis 2019 Apr 28;283:137-142. Epub 2018 Dec 28.

Lipids, Nutrition and Cardiovascular Prevention Clinic, Montreal Clinical Research Institute, Québec, Canada; Department of Medicine, Division of Experimental Medicine, McGill University, Québec, Canada; Department of Medicine, Division of Medical Biochemistry, McGill University, Québec, Canada. Electronic address:

Background And Aims: Chylomicronemia can be either monogenic or multifactorial. The monogenic form, namely familial chylomicronemia syndrome (FCS), is a rare autosomal recessive disease that strongly predisposes to pancreatitis. However, the clinical variables differentiating FCS from multifactorial chylomicronemia (MCM) are not well established. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2018.12.019DOI Listing
April 2019
2 Reads

Dietary natural products as emerging lipoprotein(a)-lowering agents.

J Cell Physiol 2019 Jan 13. Epub 2019 Jan 13.

Biotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran.

Elevated plasma lipoprotein(a) (Lp(a)) levels are associated with an increased risk of cardiovascular disease (CVD). Hitherto, niacin has been the drug of choice to reduce elevated Lp(a) levels in hyperlipidemic patients but its efficacy in reducing CVD outcomes has been seriously questioned by recent clinical trials. Additional drugs may reduce to some extent plasma Lp(a) levels but the lack of a specific therapeutic indication for Lp(a)-lowering limits profoundly reduce their use. Read More

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http://dx.doi.org/10.1002/jcp.28134DOI Listing
January 2019
4 Reads
3.839 Impact Factor

Genetic Risk, Adherence to a Healthy Lifestyle, and Ischemic Heart Disease.

Curr Cardiol Rep 2019 Jan 10;21(1). Epub 2019 Jan 10.

Gill Heart and Vascular Institute, University of Kentucky, Lexington, KY, USA.

Purpose Of Review: The purpose of this review is to investigate and discuss two aspects of coronary artery disease (CAD)-genetic risk and therapeutic lifestyle change (TLC)-both of which have key importance for patients and their care but which actually receive inadequate attention.

Recent Findings: Genetic risk has generally been relegated to a broad association with the presence of one or more inherited cardiovascular (CV) risk factors such as hypercholesterolemia, family history of atherosclerosis, hypertension, and diabetes mellitus. However, the future of genetic risk is an understanding of specific genes, a genetic risk score, specific genetic loci known as selective nucleotide polymorphisms (SNPs), specific alleles, and microribonucleic acids (miRNAs). Read More

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http://dx.doi.org/10.1007/s11886-019-1086-zDOI Listing
January 2019
5 Reads

Risk of Ischemic Stroke and Total Cerebrovascular Disease in Familial Hypercholesterolemia.

Stroke 2018 Nov 21:STROKEAHA118023456. Epub 2018 Nov 21.

Department of Clinical Medicine, University of Tromsø, Norway (A.H.).

Background and Purpose- Familial hypercholesterolemia (FH) is a common autosomal dominant disease leading to increased level of serum LDL (low-density lipoprotein) cholesterol and risk of coronary heart disease. Whether FH increases the risk of cerebrovascular disease, including ischemic stroke, is debated. Accordingly, we studied the incidence of cerebrovascular disease in a cohort of people with genetically verified FH compared with the entire Norwegian population and examined whether people in this cohort with previous cohort had increased risk of cerebrovascular disease. Read More

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http://dx.doi.org/10.1161/STROKEAHA.118.023456DOI Listing
November 2018
1 Read

Improving the detection of familial hypercholesterolaemia.

Pathology 2019 Feb 19;51(2):213-221. Epub 2018 Dec 19.

Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, WA, Australia; Department of Cardiology, Lipid Disorders Clinic, Cardiometabolic Service, Royal Perth Hospital, Perth, WA, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, WA, Australia; Department of Clinical Biochemistry, Australian Clinical Laboratories, Perth, WA, Australia. Electronic address:

Familial hypercholesterolaemia (FH) is a dominantly inherited disorder of low-density lipoprotein (LDL) catabolism, which if untreated causes lifelong elevated LDL-cholesterol (LDL-c), accelerated atherosclerosis and premature cardiovascular disease. Recent evidence suggests the prevalence of heterozygous FH is ∼1:220, making FH the most common autosomal dominant condition. Lowering LDL-c with statin and lifestyle therapy reduces the risk of cardiovascular events. Read More

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http://dx.doi.org/10.1016/j.pathol.2018.10.015DOI Listing
February 2019
2 Reads

Treatment patterns and patient characteristics among early initiators of PCSK9 inhibitors.

Vasc Health Risk Manag 2018 10;14:409-418. Epub 2018 Dec 10.

Health Economics and Outcomes Research, IQVIA, Plymouth Meeting, PA, USA.

Purpose: To describe patient characteristics and treatment patterns among early initiators of proprotein convertase subtilisin/kexin type nine inhibitors (PCSK9is) who initiated treatment within the first 6 months of market availability.

Patients And Methods: This retrospective cohort study used IQVIA's longitudinal open-source point-of-sale pharmacy claims database (LRx) and PharMetrics Plus (P+) health plan claims database to identify patients initiating a PCSK9i between January 1, 2016 and June 30, 2016. The index date was defined as the date of the first PCSK9i prescription (index claim) during the enrollment window; patients were followed for ≥6 months postindex. Read More

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http://dx.doi.org/10.2147/VHRM.S180496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292243PMC
January 2019
2 Reads

A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.

Circ Genom Precis Med 2018 Dec;11(12):e002385

Department of Vascular Medicine, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands (L.F.R., M.L.H., G.M.D.-T., G.K.H.).

Background: Familial hypercholesterolemia (FH) is an inherited disorder characterized by high plasma LDL-C (low-density lipoprotein-cholesterol) levels. The vast majority of FH patients carry a mutation in the coding region of LDLR, APOB, or PCSK9. We set out to identify the culprit genetic defect in a large family with clinical FH, in whom no mutations were identified in the coding regions of these FH genes. Read More

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http://dx.doi.org/10.1161/CIRCGEN.118.002385DOI Listing
December 2018
2 Reads

The role of genetic testing in dyslipidaemia.

Pathology 2019 Feb 14;51(2):184-192. Epub 2018 Dec 14.

Departments of Medicine and Biochemistry, and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address:

Dyslipidaemias encompass about two dozen relatively rare monogenic disorders and syndromes for which the genetic basis has largely been defined. In addition, the complex polygenic basis of disturbed lipids and lipoproteins has been characterised in many patients, and has been shown to result from accumulation of many common polymorphisms with small effects on lipids. Genetic technologies, including dedicated genotyping and sequencing methods can detect both rare and common DNA variants underlying dyslipidaemias. Read More

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http://dx.doi.org/10.1016/j.pathol.2018.10.014DOI Listing
February 2019
2 Reads

Coronary Artery Plaque Regression by a PCSK9 Antibody and Rosuvastatin in Double-heterozygous Familial Hypercholesterolemia with an LDL Receptor Mutation and a PCSK9 V4I Mutation.

Intern Med 2018 15;57(24):3551-3557. Epub 2018 Dec 15.

Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, Japan.

The low-density lipoprotein-cholesterol (LDL-C) level of a 38-year-old man diagnosed with acute coronary syndrome was 257 mg/dL. The administration of a proprotein convertase subtilisin-kexin type 9 (PCSK9) antibody in addition to rosuvastatin plus ezetimibe was initiated, reducing his LDL-C level to 37 mg/dL. A genetic analysis revealed both an LDL receptor (LDLR) mutation and a PCSK9 V4I mutation. Read More

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http://dx.doi.org/10.2169/internalmedicine.1060-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355420PMC
January 2019
2 Reads

[The becoming of reactions of lipolysis in phylogenesis. The palmitic and oleic triglycerides as substrates. Insulin, condition of normolipemia and formation of hyper lipoproteinemia type IIb, IV and V].

Klin Lab Diagn 2018;63(1):4-15

The Federal state budget scientifc institution "The research institute of general pathology and pathophysiology" of the Russian academy of sciences, 125315, Moscow, Russia.

According to phylogenetic theory of general pathology, when living in ocean all were carnivorous (piscivorous) fatty acids transferring to cells in form of non-polar triglycerides nitially began apoB-48 chylomicrons, continued lipoproteins of very low and low density and fnalized its apoB-100 endocytosis. The fatty acids are transferred by chylomicrons + lipoproteins of very low density + lipoproteins of low density and non-polar triglycerides are hydrolyzed by hepatic glycerolhydrogenase and co-enzyme apoC-III; according WHO classifcation, hyperlipoproteinemia corresponds to type V. On land, in herbivorous who are not yet synthesized insulin, apoB-48 and chylomicrons left process of non-polar triglycerides transferring. Read More

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http://dx.doi.org/10.18821/0869-2084-2018-63-1-4-15DOI Listing
January 2018
11 Reads

A case of nephrotic syndrome showing contemporary presence of apolipoprotein E2 homozygote glomerulopathy and membranous nephropathy-like findings modified by apolipoprotein E Toyonaka.

Clin Nephrol Case Stud 2018 30;6:45-51. Epub 2018 Nov 30.

Division of Nephrology, Kansai Electric Power Hospital.

A 79-year-old man was admitted to our hospital for proteinuria due to nephrotic syndrome. Renal biopsy revealed focal sclerosis and foam cell infiltration in the glomerulus. In addition, electron microscopic findings (EM) revealed peculiar electron-dense deposits (EDDs) in both sides of the glomerular basement membrane. Read More

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http://dx.doi.org/10.5414/CNCS109509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287602PMC
November 2018
2 Reads

Type III Hyperlipoproteinemia: The Forgotten, Disregarded, Neglected, Overlooked, Ignored but Highly Atherogenic, and Highly Treatable Dyslipoproteinemia.

Clin Chem 2019 Feb 11;65(2):225-227. Epub 2018 Dec 11.

McGill University Health Centre, McGill University, Montreal, Quebec.

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http://dx.doi.org/10.1373/clinchem.2018.298026DOI Listing
February 2019
9 Reads

Grayscale ultrasonic and shear wave elastographic characteristics of the Achilles' tendon in patients with familial hypercholesterolemia: A pilot study.

Eur J Radiol 2018 Dec 5;109:1-7. Epub 2018 Oct 5.

Department of Ultrasonography, Capital Medical University Affiliated Beijing Anzhen Hospital, 2 Anzhen Road St, Chaoyang District, Beijing, 100029, China.

Objective: To investigate the feasibility of grayscale ultrasound and quantitative shear wave elastography (SWE) for assessing the image features and stiffness of the Achilles tendon in patients with familial hypercholesterolemia (FH) compared with healthy controls.

Methods: A total of 38 Achilles tendons from healthy control participants and 94 from patients with FH were examined with grayscale ultrasound and SWE. Each Achilles tendon examination was performed on 3 different segments (proximal, middle, and distal). Read More

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http://dx.doi.org/10.1016/j.ejrad.2018.10.003DOI Listing
December 2018
3 Reads
2.369 Impact Factor

Mipomersen and its use in familial hypercholesterolemia.

Expert Opin Pharmacother 2019 Feb 10;20(2):127-131. Epub 2018 Dec 10.

a Division of Endocrinology, Metabolism, and Lipid Research, Department of Medicine , Washington University School of Medicine , St. Louis , MO , USA.

Introduction: Familial Hypercholesterolemia (FH) is an inherited disorder characterized by a defect in the binding and internalization of low-density lipoprotein (LDL) particles, resulting in markedly elevated LDL levels and premature atherosclerosis. It is one of the most common inherited disorders of lipid metabolism. Many FH patients, especially those with homozygous FH do not reach LDL goals with traditional LDL therapies and may require additional, less often used, therapies. Read More

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http://dx.doi.org/10.1080/14656566.2018.1550071DOI Listing
February 2019
3 Reads

Decreasing the Cholesterol Burden in Heterozygous Familial Hypercholesterolemia Children by Dietary Plant Stanol Esters.

Nutrients 2018 Dec 1;10(12). Epub 2018 Dec 1.

Wihuri Research Institute, 00290 Helsinki, Finland.

This review covers the current knowledge about plant stanol esters as a dietary treatment option for heterozygous familial hypercholesterolemia (he-FH) children. The current estimation of the prevalence of he-FH is about one out of 200⁻250 persons. In this autosomal dominant disease, the concentration of plasma low-density lipoprotein cholesterol (LDL-C) is strongly elevated since birth. Read More

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http://dx.doi.org/10.3390/nu10121842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315790PMC
December 2018
3 Reads

[Diagnosis and Treatment of Familial Hypercholesterolemia].

Praxis (Bern 1994) 2018 Nov;107(24):1345-1353

1 Klinik für Endokrinologie, Diabetologie, Osteologie und Stoffwechselkrankheiten, Kantonsspital St. Gallen.

Diagnosis and Treatment of Familial Hypercholesterolemia Abstract. Familial hypercholesterolemia secondary to heterozygous mutations in the LDL receptor, Apolipoprotein B or PCSK9 gene is characterized by 2- to 3-fold elevated LDL cholesterol levels, premature atherosclerosis and extravascular cholesterol deposits (tendon xanthomata, corneal arcus). The same phenotype may occur if a person carries several LDL cholesterol rising polymorphisms (polygenic FH). Read More

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http://dx.doi.org/10.1024/1661-8157/a003134DOI Listing
November 2018
3 Reads

Insulin resistance in children with familial hyperlipidemia.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1349-1354

Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey.

Background The aim of the study was to investigate whether there is insulin resistance in children with familial hyperlipidemia (FHL) and to determine the factors affecting insulin resistance. Methods Hyperlipidemic children aged between 4 and 18 years and followed up with an FHL diagnosis were included in the study. The children of adults followed up with an FHL diagnosis were also recruited after the screening period. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0337DOI Listing
December 2018
15 Reads

Pathogenesis, histopathologic findings and treatment modalities of lipoprotein glomerulopathy: A review.

J Bras Nefrol 2018 Nov 8. Epub 2018 Nov 8.

Departamento de Patologia, Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brasil.

Lipoprotein glomerulopathy (LPG) is an uncommon cause of nephrotic syndrome and/or kidney failure. At microscopy, LPG is characterized by the presence of lipoprotein thrombi in dilated glomerular capillaries due to different ApoE mutations. ApoE gene is located on chromosome 19q13. Read More

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.1590/2175-8239-jbn-2018-0148DOI Listing
November 2018
9 Reads

Inborn coagulation factors are more important cardiovascular risk factors than high LDL-cholesterol in familial hypercholesterolemia.

Med Hypotheses 2018 Dec 10;121:60-63. Epub 2018 Sep 10.

Department of Psychology and Department of Molecular Pharmacology and Physiology, Center for Preclinical and Clinical Research on PTSD, University of South Florida, Tampa, FL, USA. Electronic address:

High low-density-lipoprotein cholesterol (LDL-C) is routinely described as the main cause of cardiovascular disease (CVD) in familial hypercholesterolemia (FH). However, numerous observations are in conflict with Bradford Hill's criteria for causality: a) degree of atherosclerosis is not associated with LDL-C; b) on average the life span of people with FH is about the same as for other people; c) LDL-C of people with FH without CVD is almost as high as in FH patients of the same age with CVD; and d) questionable benefit or none at all have been achieved in the controlled, randomized cholesterol-lowering trials that have included FH individuals only. Obviously, those individuals with FH who suffer from CVD may have inherited other and more important risk factors of CVD than high LDL-C. Read More

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http://dx.doi.org/10.1016/j.mehy.2018.09.019DOI Listing
December 2018
8 Reads

Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease.

Int J Mol Sci 2018 Nov 1;19(11). Epub 2018 Nov 1.

Departamento de Bioquímica, Instituto Biofisika (UPV/EHU, CSIC), Universidad del País Vasco, Apdo.644, 48080 Bilbao, Spain.

Cholesterol is an essential component of cell barrier formation and signaling transduction involved in many essential physiologic processes. For this reason, cholesterol metabolism must be tightly controlled. Cell cholesterol is mainly acquired from two sources: Dietary cholesterol, which is absorbed in the intestine and, intracellularly synthesized cholesterol that is mainly synthesized in the liver. Read More

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http://www.mdpi.com/1422-0067/19/11/3426
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http://dx.doi.org/10.3390/ijms19113426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275065PMC
November 2018
12 Reads

No effect of PCSK9 inhibitors on D-dimer and fibrinogen levels in patients with familial hypercholesterolemia.

Biomed Pharmacother 2018 Dec 6;108:1412-1414. Epub 2018 Oct 6.

Department of Internal Medicine, Vascular and Metabolic Diseases Section, Erasmus University Medical Center, 's Gravendijkwal 230, 3015CE, Rotterdam, the Netherlands. Electronic address:

Statins are generally believed to have cardiovascular protective effects independent of low-density lipoprotein-cholesterol (LDL-C) lowering, such as antithrombotic effects characterized by a decrease in D-dimer levels. For the recently introduced Proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors antithrombotic effects are yet unknown. We determined the effect of starting PCSK9 inhibitors on D-dimer and fibrinogen levels as most robust markers for thrombogenicity in statin-intolerant patients with familial hypercholesterolemia. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07533322183447
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http://dx.doi.org/10.1016/j.biopha.2018.09.164DOI Listing
December 2018
4 Reads

Predictors of Family Recruitment in a Program of Genetic Cascade Screening for Familial Hypercholesterolemia.

Arq Bras Cardiol 2018 10;111(4):585-586

Disciplina de Cardiologia - Escola Paulista de Medicina - Universidade Federal de São Paulo, São Paulo, SP - Brazil.

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http://dx.doi.org/10.5935/abc.20180193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199521PMC
October 2018
2 Reads

[The Role of Lipoprotein(a) in the Development of Peripheral and Carotid Atherosclerosis].

Kardiologiia 2018 06;58(6):70-78

National Medical Research Center for Cardiology.

Lipoprotein(a) [Lp(a)] consists of an LDL-like particle in which the apolipoprotein B100 is covalently bound to apolipoprotein(a) by a single disulfide bond. Lp(a) is synthesized in the liver and its plasma concentration varies from 0 to 400 mg/dl. Increased level of Lp(a) is considered to be an independent risk factor of cardiovascular diseases and coronary heart disease. Read More

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June 2018
12 Reads

Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report.

Medicine (Baltimore) 2018 Oct;97(42):e12869

Department of Cardiology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders.

Rationale: Familial hypercholesterolemia (FH) is a common inherited cause of coronary heart disease (CHD) and premature death in an early age. Nevertheless, an ischemic heart failure (IHF) associated with FH seems to be rare, and an early diagnosis and therapy could influence the prognosis.

Patient Concerns: In this 13-year-old girl, multiple xanthomas began to develop from the first day of birth. Read More

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http://Insights.ovid.com/crossref?an=00005792-201810190-0006
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http://dx.doi.org/10.1097/MD.0000000000012869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211926PMC
October 2018
6 Reads
5.720 Impact Factor

Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition.

PLoS One 2018 17;13(10):e0204771. Epub 2018 Oct 17.

Instituto Biofisika (UPV/EHU, CSIC) and Departamento de Bioquímica, Universidad del País Vasco, Bilbao, Spain.

Background And Aims: Pathogenic mutations in the Low Density Lipoprotein Receptor gene (LDLR) cause Familial Hypercholesterolemia (FH), one of the most common genetic disorders with a prevalence as high as 1 in 200 in some populations. FH is an autosomal dominant disorder of lipoprotein metabolism characterized by high blood cholesterol levels, deposits of cholesterol in peripheral tissues such as tendon xanthomas and accelerated atherosclerosis. To date, 2500 LDLR variants have been identified in the LDLR gene; however, only a minority of them have been experimentally characterized and proven to be pathogenic. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0204771PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192581PMC
March 2019
4 Reads

Lipid profile in schizophrenia: case control study.

Tunis Med 2018 Jan;96(1):22-29

Introduction: Cardiovascular diseases are common co morbidities of schizophrenia and constitute the main factors of high mortality in this pathology. Cardiovascular damages are favored by some risk factors, of which one of the most important is dyslipidemia. In this context, a study of lipid profile in schizophrenia is interesting. Read More

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January 2018
22 Reads

The spectrum of type III hyperlipoproteinemia.

J Clin Lipidol 2018 Nov - Dec;12(6):1383-1389. Epub 2018 Sep 14.

Centre Hospitalier de l'Universite Laval, Quebec, Quebec, Canada.

Background: Type III hyperlipoproteinemia is a highly atherogenic dyslipoproteinemia characterized by hypercholesterolemia and hypertriglyceridemia due to markedly increased numbers of cholesterol-enriched chylomicron and very-low-density lipoprotein (VLDL) remnant lipoprotein particles. Type III can be distinguished from mixed hyperlipidemia based on a simple diagnostic algorithm, which involves total cholesterol, triglycerides, and apolipoprotein B (apoB). However, apoB is not measured routinely. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S19332874183040
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http://dx.doi.org/10.1016/j.jacl.2018.09.006DOI Listing
September 2018
16 Reads

Characterizing familial chylomicronemia syndrome: Baseline data of the APPROACH study.

J Clin Lipidol 2018 Sep - Oct;12(5):1234-1243.e5. Epub 2018 May 31.

Department of Medicine, University California San Diego, La Jolla, CA, USA.

Background: Familial chylomicronemia syndrome (FCS) is a rare metabolic disorder caused by mutations in lipoprotein lipase (LPL) or genes required for LPL functionality and is characterized by hyperchylomicronemia that results in recurrent episodes of acute pancreatitis. Owing to the rarity of FCS, there are few case series describing the phenotypic variability in FCS patients in detail.

Objective: To provide baseline characteristics in the largest study population to date of patients with FCS. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S19332874183024
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http://dx.doi.org/10.1016/j.jacl.2018.05.013DOI Listing
May 2018
18 Reads

Usefulness of compounds with monacolin K in a case of statins intolerance.

Clin Investig Arterioscler 2018 Nov - Dec;30(6):268-270. Epub 2018 Oct 9.

Internal Medicine, Lipids Unit, Gregorio Marañón University Hospital, Madrid, Spain; Department of Medicine, School of Medicine, Universidad Complutense de Madrid, Madrid, Spain; Instituto de Investigaciones Sanitarias Gregorio Marañón, Madrid, Spain. Electronic address:

Many patients with familial hypercholesterolaemia (FH) or in secondary prevention situations and with statin intolerance do not achieve LDL-C targets, and require treatment with PCSK9 inhibitors (iPCSK9) and ezetimibe. The case is presented on a patient with FH and total intolerance to statins. Treatment with iPCSK9 and ezetimibe failed to achieve her LDL-C target. Read More

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http://dx.doi.org/10.1016/j.arteri.2018.06.003DOI Listing
March 2019
1 Read

A rare STAP1 mutation incompletely associated with familial hypercholesterolemia.

Clin Chim Acta 2018 Dec 9;487:270-274. Epub 2018 Oct 9.

Institut de Recerca de l'HSCSP - IIB Sant Pau, Spain. Electronic address:

Autosomal dominant hypercholesterolemia, being referred to as familial hypercholesterolemia (FH), is mainly due to defective LDL receptor (LDLR) function, but is also associated with variants in genes encoding APOB (LDLR ligand) and PCSK9, the catabolic regulator of LDLR. The signal-transducing adaptor family member 1 (STAP1) gene has been recently linked to FH. We describe the case of a 56-year-old male patient found to have hypercholesterolemia at age 34, but who did not continue follow-up nor received treatment with lipid-lowering drugs. Read More

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http://dx.doi.org/10.1016/j.cca.2018.10.014DOI Listing
December 2018
1 Read

Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation.

J Pediatr Endocrinol Metab 2018 Nov;31(11):1289-1293

Dokuz Eylul University, Department of Pediatric Metabolism and Nutrition, Izmir, Turkey.

Background Familial apo C-II deficiency is a rare hereditary disorder frequently caused by lipoprotein lipase (LPL) and APOC2 gene mutations. To date, less than 30 patients with familial apo C-II deficiency with 24 different mutations have been identified in the literature. Here, we describe two familial chylomicronemia syndrome cases in infants with two novel mutations of the APOC2 gene. Read More

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http://dx.doi.org/10.1515/jpem-2018-0280DOI Listing
November 2018
3 Reads

FAMILIAL COMBINED HYPERLIPIDEMIA: CURRENT KNOWLEDGE, PERSPECTIVES, AND CONTROVERSIES.

Rev Invest Clin 2018 ;70(5):224-236

Metabolic Diseases Research Unit, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

Familial combined hyperlipidemia (FCHL) is the most prevalent primary dyslipidemia; however, it frequently remains undiagnosed and its precise definition is a subject of controversy. FCHL is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B. FCHL is an oligogenic primary lipid disorder, which can occur due to the interaction of several contributing variants and mutations along with environmental triggers. Read More

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http://www.clinicalandtranslationalinvestigation.com/files/p
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http://dx.doi.org/10.24875/RIC.18002575DOI Listing
December 2018
4 Reads

Lipoprotein apheresis in the management of severe hypercholesterolemia and hyperlipoproteinemia(a)-The Portuguese experience.

Transfus Apher Sci 2018 Oct 5;57(5):676-680. Epub 2018 Sep 5.

Endocrinology Department, Centro Hospitalar do Porto, Porto, Portugal.

Background: Low-density lipoprotein cholesterol (LDL-C) and lipoprotein(a) (Lp(a)) are established causal risk factors for cardiovascular disease (CVD). Lipoprotein apheresis is often required for treatment of patients with a high risk for CVD due to hypercholesterolemia and/or hyperlipoproteinemia(a).

Aim: To describe our experience with lipoprotein apheresis in patients with severe hypercholesterolemia or with hyperlipoproteinemia(a). Read More

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http://dx.doi.org/10.1016/j.transci.2018.08.004DOI Listing
October 2018
9 Reads

Lack of Correlation of Carotid Intima-Media Index and Peripheral Artery Disease.

High Blood Press Cardiovasc Prev 2018 Dec 24;25(4):379-383. Epub 2018 Sep 24.

Servicio de Cirugía Vascular, Unidad de Hipertensión Arterial, Hospital Infanta Cristina, Carretera de Portugal s/n., 06070, Badajoz, Spain.

Introduction: Increased carotid intima-media thickness (IMT) measurement is usually seen as a surrogate marker of peripheral artery disease (PAD) but there is scarce cumulated evidence to support this view.

Aim: To evaluate prevalence of increased IMT among patients with symptomatic PAD as well as the frequency of some cardiovascular risk factors in these patients.

Methods: They were recruited 230 patients with diagnosis of medium peripheral artery disease in the Vascular Surgery Service outpatient's office. Read More

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http://dx.doi.org/10.1007/s40292-018-0282-zDOI Listing
December 2018
2 Reads

Changes in serum afamin and vitamin E levels after selective LDL apheresis.

J Clin Apher 2018 Oct 3;33(5):569-575. Epub 2018 Sep 3.

Department of Internal Medicine, University of Debrecen Faculty of Medicine, Debrecen, Hungary.

Background: Afamin is a plasma vitamin E-binding glycoprotein partially associated with ApoA1-containing high-density lipoprotein (HDL) subfractions. In a previous study, the serum vitamin E decreased after low-density lipoprotein (LDL) apheresis, while vitamin E/cholesterol ratio increased. We aimed to study the effect of LDL apheresis on serum afamin level. Read More

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http://doi.wiley.com/10.1002/jca.21636
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http://dx.doi.org/10.1002/jca.21636DOI Listing
October 2018
14 Reads

Role of Apolipoprotein E gene polymorphism in the risk of familial hypercholesterolemia: a case-control study.

Acta Biochim Pol 2018 15;65(3):415-420. Epub 2018 Sep 15.

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, PO Box-10219, Riyadh-11433, Kingdom of Saudi Arabia.

Familial Hypercholesterolemia (FH) is characterized by elevated cholesterol and based on biochemical, clinical, and genetic studies and FH disease, which was documented even with limited mutations. Earlier studies focused on Apolipoprotein E (ApoE) in variable diseases. The current study aimed to investigate the genetic association between FH disease and ApoE gene polymorphisms (rs429358 and rs7412) in the Saudi population. Read More

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http://dx.doi.org/10.18388/abp.2017_2344DOI Listing
December 2018
2 Reads

Systemic retinoids for treatment of recalcitrant IgA pemphigus.

Orphanet J Rare Dis 2018 09 18;13(1):163. Epub 2018 Sep 18.

Department of Dermatology, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Hauptstr. 7, 79104, Freiburg, Germany.

IgA pemphigus is an exceedingly rare autoimmune blistering disorder, caused by IgA autoantibodies against desmosomal proteins. No treatment option has been found to be universally effective. The disease is often recalcitrant to oral steroids and immunosuppressants. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0899-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145102PMC
September 2018
6 Reads