12,399 results match your criteria Hyperlipoproteinemia


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

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

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

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
1 Read

[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
5 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

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

Clin Chem 2018 Dec 11. 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
December 2018
7 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
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
1 Read

[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
8 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
5 Reads
5.720 Impact Factor

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
14 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
11 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
10 Reads

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
1 Read

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
2 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
8 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
1 Read

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
11 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

Systemic retinoids for treatment of recalcitrant IgA pemphigus.

Orphanet J Rare Dis 2018 Sep 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
4 Reads

Familial Chylomicronemia Syndrome: A Clinical Guide For Endocrinologists.

Authors:
James M Falko

Endocr Pract 2018 08;24(8):756-763

Objective: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder caused by mutations in lipoprotein lipase, resulting in accumulation of chylomicrons in plasma and hypertriglyceridemia. Elevated triglycerides cause several complications in patients, the most serious being episodes of acute pancreatitis. This review focuses on expert guidance and opinion from an experienced lipidologist and endocrinologist as well as a current review of the literature, as there are no specific guidelines on FCS. Read More

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http://dx.doi.org/10.4158/EP-2018-0157DOI Listing
August 2018
1 Read

Familial hypercholesterolemia supravalvular aortic stenosis and extensive atherosclerosis.

Indian Heart J 2018 Jul - Aug;70(4):575-577. Epub 2018 Jan 8.

Department of Cardiology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India. Electronic address:

Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes. This can lead to premature coronary atherosclerosis and cardiac-related death. The symptoms are more severe in the homozygous type of the disease. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00194832173055
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http://dx.doi.org/10.1016/j.ihj.2018.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116717PMC
October 2018
8 Reads

Familial hypercholesterolemia revealed by multiple xanthomas.

Pan Afr Med J 2018;30:29. Epub 2018 May 16.

Service of Endocrinology, Diabetology and Metabolic Diseases, University Hospital of Marrakech, Marrakech, Morocco.

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http://www.panafrican-med-journal.com/content/article/30/29/
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http://dx.doi.org/10.11604/pamj.2018.30.29.15719DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110544PMC
October 2018
4 Reads

Lipaemia retinalis in familial chylomicronaemia syndrome.

Lancet 2018 08;392(10148):e7

Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.

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http://dx.doi.org/10.1016/S0140-6736(18)31796-3DOI Listing
August 2018
1 Read

Guidance on the management of familial hypercholesterolaemia in Hong Kong: an expert panel consensus viewpoin.

Hong Kong Med J 2018 08;24(4):408-415

Department of Paediatrics, Prince of Wales Hospital, Shatin, Hong Kong.

In 2016, meetings of groups of physicians and paediatricians with a special interest in lipid disorders and familial hypercholesterolaemia were held to discuss several domains of management of familial hypercholesterolaemia in adults and children in Hong Kong. After reviewing the evidence and guidelines for the diagnosis, screening, and management of familial hypercholesterolaemia, consensus was reached on the following aspects: clinical features, diagnostic criteria, screening in adults, screening in children, management in relation to target plasma low-density lipoprotein cholesterol levels, detection of atherosclerosis, lifestyle and behaviour modification, and pharmacotherapy. Read More

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http://dx.doi.org/10.12809/hkmj187215DOI Listing
August 2018
4 Reads

Pathogenesis of insulin resistance in pregnant women with obesity.

Wiad Lek 2018;71(4):801-806

Higher State Educational Establishment Of Ukraine, Ukrainian Medical Stomatological Academy, Poltava, Ukraine.

Objective: Introduction: Obesity is one of the most important medical and social problems in many countries of the world, as it is associated with the development of the most common non-communicable diseases: cardiovascular, type II diabetes mellitus, motor disorders, non-alcoholic fatty liver disease (NHAHP) and others. The aim of this paper is to analyze the pathogenetic mechanisms of insulin resistance development in pregnant women with varying obesity degrees in early and late gestation periods.

Patients And Methods: Materials and methods: 459 pregnant women were examined at the Poltava City Clinical Maternity Hospital in the early (9-13 weeks) and late gestation periods (34-38 weeks). Read More

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October 2018
2 Reads

An insight into familial hypercholesterolemia in Greece: rationale and design of the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH).

Hormones (Athens) 2017 Jul 30;16(3):306-312. Epub 2017 Nov 30.

Department of Internal Medicine, University of Ioannina Medical School, University Hospital of Ioannina, 45110, Ioannina, Greece.

Familial hypercholesterolemia (FH) is the most common metabolic genetic disorder. It is estimated that around 13 million people worldwide have FH. At the same time, only 25% of FH patients have been diagnosed. Read More

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http://dx.doi.org/10.1007/BF03401525DOI Listing
July 2017
2 Reads

Reduced incidence of cardiovascular events in hyper-Lp(a) patients on lipoprotein apheresis. The G.I.L.A. (Gruppo Interdisciplinare Aferesi Lipoproteica) pilot study.

Transfus Apher Sci 2018 Oct 1;57(5):661-664. Epub 2018 Aug 1.

U.O. Lipoapheresis and Center for Inherited Dyslipidemias, Fondazione Toscana Gabriele Monasterio, Via Moruzzi, 1 - 56124 Pisa, Italy. Electronic address:

Background: Lipoprotein apheresis (LA) is the elective therapy for homozygous and other forms of Familial Hypercholesterolemia, Familial Combined Hypercholesterolemia, resistant/intolerant to lipid lowering drugs, and hyper-lipoproteinemia(a). Lipoprotein(a) [Lp(a)] has been classified as the most prevalent genetic risk factor for coronary artery disease and aortic valve stenosis.

Aim: Our multicenter retrospective study has the aim to analyze the incidence of adverse cardiovascular events (ACVE) before and during the LA treatment, in subjects with elevated level of Lp(a) (>60 mg/dL) [hyper-Lp(a)] and chronic ischemic heart disease. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S14730502183023
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http://dx.doi.org/10.1016/j.transci.2018.07.015DOI Listing
October 2018
28 Reads

[Familial hypercholesterolemia: An under-diagnosed and under-treated disease. Survey of 495 physicians].

Presse Med 2018 Sep 27;47(9):e159-e167. Epub 2018 Jul 27.

Hôpital Pitié-Salpêtrière, endocrinologie, métabolisme et prévention des maladies cardiovasculaires, 75013 Paris, France.

Introduction: Heterozygous familial hypercholesterolemia (FH) is one of the most frequent genetic diseases with a prevalence of 1/250. It is characterized by a very high cholesterol level since birth and is often complicated by cardiovascular diseases (CV) in young patients. While early diagnosis and appropriate therapeutic management can avoid CV complications, HF is largely under-diagnosed and therefore under-treated. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07554982183027
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http://dx.doi.org/10.1016/j.lpm.2018.01.025DOI Listing
September 2018
2 Reads

Acute anterior myocardial infarction in a 22-year-old male nephrotic patient along with familial hyperlipidaemia.

Cardiol Young 2018 Nov 24;28(11):1348-1352. Epub 2018 Jul 24.

Department of Cardiovascular Disease,Qingyuan People's Hospital,Guangzhou Medical University,Qingyuan,Guangdong,China.

We report a case of acute myocardial infarction in a nephrotic male patient. A 22-year-old man with a 1-year history of nephrotic syndrome due to membranous nephropathy presented with acute chest pain and was admitted to our emergency room. An electrocardiogram showed ST elevation in leads consistent with anterior and inferior myocardial infarction. Read More

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http://dx.doi.org/10.1017/S1047951118001130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199550PMC
November 2018
6 Reads

Prevalence and pharmacologic management of familial hypercholesterolemia in an unselected contemporary cohort of patients with stable coronary artery disease.

Clin Cardiol 2018 Aug 20;41(8):1075-1083. Epub 2018 Aug 20.

Division of Cardiology, Garibaldi-Nesima Hospital, Catania, Italy.

Introduction: Familial hypercholesterolemia (FH) is an inherited disorder characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) associated with premature cardiovascular disease.

Methods: Using the data from the START (STable Coronary Artery Diseases RegisTry) study, a nationwide, prospective survey on patients with stable coronary artery disease (CAD), we described prevalence and lipid lowering strategies commonly employed in these patients. The study population was divided into "definite/probable FH," defined as a Dutch Lipid Clinic Network (DLCN) score ≥6, "possible FH" with DLCN 3-5, and "unlikely FH" in presence of a DLCN <3. Read More

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http://dx.doi.org/10.1002/clc.23031DOI Listing
August 2018
9 Reads

Genetic testing for a patient with suspected familial hypercholesterolaemia.

BMJ Case Rep 2018 Jul 19;2018. Epub 2018 Jul 19.

Department of Cardiology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.

Familial hypercholesterolaemia (FH) is a genetic condition that results in elevated low-density lipoprotein (LDL) cholesterol (LDL-C) levels with consequent increased risk for premature cardiovascular disease events. Although it is considered an autosomal-dominant genetic condition, the underlying genetic causes of FH can be complex. Currently most guidelines rely on clinical criteria to diagnose FH. Read More

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http://dx.doi.org/10.1136/bcr-2018-225259DOI Listing
July 2018
4 Reads

Reconstruction of the Achilles tendon using quadriceps tendon graft in bilateral xanthomas secondary to familial hypercholesterolemia: A case report.

Eklem Hastalik Cerrahisi 2018 Aug;29(2):117-22

Department of Orthopedics and Traumatology, Metin Sabancı Baltalimanı Bone and Joint Diseases Training and Research Hospital, 34470 Sarıyer, İstanbul, Turkey.

Achilles tendon xanthomas are rarely seen masses that are highly associated with hyperlipidemia. They are manifested in two types: Xanthomas developed secondary to familial hypercholesterolemia and cerebrotendinous xanthomatoses. In this report, we present a case of bilateral Achilles tendon xanthoma secondary to familial hypercholesterolemia and resection along with a portion of the Achilles tendon. Read More

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http://dx.doi.org/10.5606/ehc.2018.60542DOI Listing
August 2018
4 Reads

Apheresis to Mitigate Atherosclerotic Vascular Disease.

Am J Hypertens 2018 Jul;31(8):945-949

New York Blood Center, New York, New York, USA.

Background: Therapeutic apheresis is a term used to describe a group of treatments where blood components are separated in real time, and one component is removed, exchanged, and/or treated to remove pathogenic substances from the circulation. Plasma exchange, which removed all plasma components, and lipid apheresis which selectively removes lipoproteins from circulation, have both been used to treat atherosclerotic vascular diseases.

Methods: To review the literature regarding the application of therapeutic apheresis for atherosclerotic vascular diseases. Read More

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http://dx.doi.org/10.1093/ajh/hpy068DOI Listing
July 2018
6 Reads

Familial hypercholesterolemia in pediatric patients. The success begins here.

Clin Investig Arterioscler 2018 Jul - Aug;30(4):179-180

Instituto De Investigación Sanitaria Aragón, CIBERCV, Universidad de Zaragoza, Zaragoza, España.

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http://dx.doi.org/10.1016/j.arteri.2018.06.001DOI Listing
December 2018
1 Read

Familial hypercholesterolemia: Experience in the Lipid Clinic of Alava.

Clin Investig Arterioscler 2018 Sep - Oct;30(5):224-229. Epub 2018 Jul 3.

Unidad de Lípidos, Hospital Universitario Araba, Vitoria, España. Electronic address:

Introduction: Familial hypercholesterolaemia (FH) is the autosomal dominant genetic disorder most frequently associated with premature cardiovascular disease (CVD).

Material And Methods: A retrospective, observational study was conducted to determine the clinical characteristics, analytical parameters and cardiovascular risk factors of 133 patients with a genetically confirmed diagnosis of FH on follow-up in the Lipid Clinic of Alava.

Results: CVD was observed in 8. Read More

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http://dx.doi.org/10.1016/j.arteri.2018.04.007DOI Listing
January 2019
9 Reads

Characterization of Atherosclerosis Formation in a Murine Model of Type IIa Human Familial Hypercholesterolemia.

Biomed Res Int 2018 7;2018:1878964. Epub 2018 Jun 7.

The W. M. Keck Center for Transgene Research and the Department of Chemistry and Biochemistry, University of Notre Dame, Notre Dame, IN 46556, USA.

A murine genetic model of LDL-cholesterol- (LDL-C-) driven atherosclerosis, based on complete deficiencies of both the LDL-receptor () and key catalytic component of an apolipoprotein B-edisome complex (), which converts apoB-100 to apoB-48, has been extensively characterized. These gene deficiencies allow high levels of apoB-100 to be present and inefficiently cleared, thus leading to very high levels of LDL-C in mice on a normal diet. Many key features of atherosclerotic plaques observed in human familial hypercholesterolemia are found in these mice as they are allowed to age through 72 weeks. Read More

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http://dx.doi.org/10.1155/2018/1878964DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011105PMC
January 2019
1 Read

Genetic screening for familial hypercholesterolaemia in Hong Kong.

Hong Kong Med J 2018 06;24 Suppl 3(3):7-10

Department of Medicine, Pamela Youde Nethersole Eastern Hospital.

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Universal screening at age 1-2 years as an adjunct to cascade testing for familial hypercholesterolaemia in the UK: A cost-utility analysis.

Atherosclerosis 2018 Aug 4;275:434-443. Epub 2018 Jun 4.

Department of Health Services Research and Policy, London School of Hygiene and Tropical Medicine, London, UK.

Background And Aims: Familial hypercholesterolaemia (FH) is widely underdiagnosed. Cascade testing (CT) of relatives has been shown to be feasible, acceptable and cost-effective in the UK, but requires a supply of index cases. Feasibility of universal screening (US) at age 1-2 years was recently demonstrated. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2018.05.047DOI Listing
August 2018
14 Reads

Insulin resistance involvement in prevalence of familial dysbetalipoproteinemia in ε2ε2 subjects by Bayesian network modeling.

Clin Biochem 2018 Sep 18;59:31-36. Epub 2018 Jun 18.

Departments of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, RB 9700, The Netherlands.

Objective: Familial dysbetalipoproteinemia (FD) or Type III hyperlipoproteinemia is closely associated with the ε2ε2 genotype of the common APOE polymorphism although not all ε2 homozygotes develop FD indicating that additional factors play a role including insulin resistance (IR). The current study was undertaken to explore relationships and influences among factors, especially IR, that might elucidate FD progression pathways.

Methods: Bayesian network (BN) modeling, a probabilistic graphical exploratory data analysis tool that portrays relationships and influences among variables as simple diagrams, was applied to 52 e2e2 subjects. Read More

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http://dx.doi.org/10.1016/j.clinbiochem.2018.06.009DOI Listing
September 2018
1 Read

Expression of the Marburg I Single Nucleotide Polymorphism (MI-SNP) and the Marburg II Single Nucleotide Polymorphism (MII-SNP) of the Factor VII-Activating Protease (FSAP) Gene and Risk of Coronary Artery Disease (CAD): A Pilot Study in a Single Population.

Med Sci Monit 2018 Jun 21;24:4271-4278. Epub 2018 Jun 21.

Department of Cardiology, Hospital Bad Homburg Internal Medicine I, Bad Homburg, Germany.

BACKGROUND Factor VII-activating protease (FSAP) has a role in vascular inflammation and may have a role coronary artery disease (CAD). The aim of this study was to investigate the association between two naturally occurring single nucleotide polymorphisms (SNPs) in the FSAP gene and the risk of coronary artery disease (CAD). MATERIAL AND METHODS Of 733 patients, 173 patients had symptoms of angina, and 560 patients had CAD confirmed by coronary angiography. Read More

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http://dx.doi.org/10.12659/MSM.906984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044212PMC
June 2018
2 Reads

Severe hypertriglyceridemia presenting as eruptive xanthomatosis.

J Family Med Prim Care 2018 Jan-Feb;7(1):267-270

Department of Internal Medicine, University of Miami Miller School of Medicine, Miami, Florida, USA.

Eruptive xanthomatosis is described as the sudden eruption of erythematous yellow papules in the presence of hypertriglyceridemia, often associated with serum triglyceride levels above 2000 mg/dl. Severe hypertriglyceridemia can be caused by primary genetic mutations, secondary chronic diseases, or a combination of both. Uncontrolled diabetes mellitus is a known risk factor. Read More

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http://dx.doi.org/10.4103/jfmpc.jfmpc_270_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5958585PMC
June 2018
12 Reads

Familial hypercholesterolaemia: a look toward the East.

Authors:
Jean Ferrières

Kardiol Pol 2018 ;76(6):935-936

Department of Cardiology and Department of Epidemiology, Health Economics and Public Health, UMR 1027 INSERM, Toulouse-Rangueil University Hospital, Toulouse University School of Medicine, Toulouse, France.

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http://dx.doi.org/10.5603/KP.2018.0116DOI Listing
July 2018
1 Read

Statement for Appropriate Clinical Use of PCSK9 Inhibitors.

J Atheroscler Thromb 2018 Aug 13;25(8):747-750. Epub 2018 Jun 13.

Department of Community Medicine & Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine.

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http://dx.doi.org/10.5551/jat.45229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099074PMC
August 2018
3 Reads

Novel Approaches for the Treatment of Familial Hypercholesterolemia: Current Status and Future Challenges.

J Atheroscler Thromb 2018 Aug 13;25(8):665-673. Epub 2018 Jun 13.

Department of Cardiology, the Second Affiliated Hospital of Nanchang University.

Familial hypercholesterolemia (FH) is an autosomal-dominant disorder that is characterized by high plasma low-density lipoprotein cholesterol (LDL-c) levels and an increased risk of cardiovascular disease. Despite the use of high-dose statins and the recent addition of proprotein convertase subtilisin/kexin type 9 inhibitors as a treatment option, many patients with homozygous FH fail to achieve optimal reductions of LDL-c levels. Gene therapy has become one of the most promising research directions for contemporary life sciences and is a potential treatment option for FH. Read More

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https://www.jstage.jst.go.jp/article/jat/25/8/25_43372/_arti
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http://dx.doi.org/10.5551/jat.43372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099065PMC
August 2018
3 Reads
2.733 Impact Factor

A disordered acidic domain in GPIHBP1 harboring a sulfated tyrosine regulates lipoprotein lipase.

Proc Natl Acad Sci U S A 2018 06 13;115(26):E6020-E6029. Epub 2018 Jun 13.

Finsen Laboratory, Rigshospitalet, DK-2200 Copenhagen N, Denmark;

The intravascular processing of triglyceride-rich lipoproteins depends on lipoprotein lipase (LPL) and GPIHBP1, a membrane protein of endothelial cells that binds LPL within the subendothelial spaces and shuttles it to the capillary lumen. In the absence of GPIHBP1, LPL remains mislocalized within the subendothelial spaces, causing severe hypertriglyceridemia (chylomicronemia). The N-terminal domain of GPIHBP1, an intrinsically disordered region (IDR) rich in acidic residues, is important for stabilizing LPL's catalytic domain against spontaneous and ANGPTL4-catalyzed unfolding. Read More

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http://dx.doi.org/10.1073/pnas.1806774115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042107PMC
June 2018
3 Reads

The effect of volanesorsen treatment on the burden associated with familial chylomicronemia syndrome: the results of the ReFOCUS study.

Expert Rev Cardiovasc Ther 2018 Jul 22;16(7):537-546. Epub 2018 Jun 22.

b Akcea Therapeutics , Cambridge , MA , USA.

Background: Volanesorsen, an investigational inhibitor of apoC-III synthesis, significantly reduced triglyceride levels in clinical trials in patients with familial chylomicronemia syndrome (FCS), a rare genetic disorder characterized by marked chylomicronemia leading to a spectrum of symptoms, including recurrent abdominal pain and episodes of potentially fatal acute pancreatitis (AP).

Objective: To determine the effect of volanesorsen on burden of disease on patients with FCS Methods: ReFOCUS was a retrospective global web-based survey open to patients with FCS who received volanesorsen for ≥3 months in an open-label extension study. The survey included questions about patients' experiences before and after volanesorsen treatment. Read More

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http://dx.doi.org/10.1080/14779072.2018.1487290DOI Listing
July 2018
4 Reads

Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017.

J Atheroscler Thromb 2018 Aug 7;25(8):751-770. Epub 2018 Jun 7.

Department of Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine.

Statement1. Familial hypercholesterolemia (FH) is an autosomal hereditary disease with the 3 major clinical features of hyper-LDL-cholesterolemia, premature coronary artery disease and tendon and skin xanthomas. As there is a considerably high risk of coronary artery disease (CAD), in addition to early diagnosis and intensive treatment, family screening (cascade screening) is required (Recommendation level A) 2. Read More

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http://dx.doi.org/10.5551/jat.CR003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099072PMC
August 2018
21 Reads

Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

Int J Mol Sci 2018 Jun 5;19(6). Epub 2018 Jun 5.

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

Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by high blood-cholesterol levels mostly caused by mutations in the low-density lipoprotein receptor (LDLr). With a prevalence as high as 1/200 in some populations, genetic screening for pathogenic LDLr mutations is a cost-effective approach in families classified as 'definite' or 'probable' FH and can help to early diagnosis. However, with over 2000 LDLr variants identified, distinguishing pathogenic mutations from benign mutations is a long-standing challenge in the field. Read More

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http://dx.doi.org/10.3390/ijms19061676DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032215PMC
June 2018
20 Reads