8,796 results match your criteria Hypercholesterolemia Familial


VEGFR2 and OPG genes modify the risk of subclinical coronary atherosclerosis in patients with familial hypercholesterolemia.

Atherosclerosis 2019 Mar 31;285:17-22. Epub 2019 Mar 31.

Fundación Hipercolesterolemia Familiar, Madrid, Spain. Electronic address:

Background And Aims: Heterozygous familial hypercholesterolemia (FH) is a genetic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-C). The magnitude of atherosclerotic cardiovascular disease (ASCVD) risk in FH patients is highly variable, and this can result from genetic factors. The aim of our study was to characterize whether polymorphisms in VEGFR2 and OPG genes could influence the expression of ASCVD in FH patients. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00219150193015
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http://dx.doi.org/10.1016/j.atherosclerosis.2019.03.019DOI Listing
March 2019
1 Read

[Lipid Lowering Therapy with Statins in Patients with Heterozygous Familial Hypercholesterolemia].

Kardiologiia 2019 Apr 12;59(3):27-35. Epub 2019 Apr 12.

Petrozavodsk State University.

Aim: to analyze adherence of FH patients with familial hypercholesterolemia (FH) to the statin therapy and reveal factors, which influence it; to assess the degree of target level of low-density lipoprotein cholesterol (LDLCH) achievement by FH patients on statin therapy. Materials and methods. We included in this study 203 FH patients aged >18 years (mean age 50. Read More

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http://dx.doi.org/10.18087/cardio.2019.3.10238DOI Listing

Oxygen Venous Embolism After Hydrogen Peroxide Use During Percutaneous Nephrolithotomy.

J Endourol Case Rep 2019 18;5(1):25-27. Epub 2019 Mar 18.

Department of Urology, George Washington University Medical School, Washington, District of Columbia.

Hydrogen peroxide (HO) is a common antiseptic that is available without a prescription in the United States, and it is indicated for minor dermal abrasion; mouth, gum, or dental irritations; and removal of oral secretion. Several other medical uses have also been described, including clot dissolution during endoscopic gastrointestinal evaluation, cleansing of orthopedic surgical sites, and bladder irrigation. However, these uses of HO, as well as high-dose ingestion, have been associated with a wide variety of medical complications, including but not limited to air pulmonary embolism and stroke. Read More

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https://www.liebertpub.com/doi/10.1089/cren.2018.0111
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http://dx.doi.org/10.1089/cren.2018.0111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461058PMC
March 2019
1 Read

Sub-optimal cholesterol response to initiation of statins and future risk of cardiovascular disease.

Heart 2019 Apr 15. Epub 2019 Apr 15.

Division of Primary Care, University of Nottingham, Nottingham, UK.

Objective: To assess low-density lipoprotein cholesterol (LDL-C) response in patients after initiation of statins, and future risk of cardiovascular disease (CVD).

Methods: Prospective cohort study of 165 411 primary care patients, from the UK Clinical Practice Research Datalink, who were free of CVD before statin initiation, and had at least one pre-treatment LDL-C within 12 months before, and one post-treatment LDL-C within 24 months after, statin initiation. Based on current national guidelines, <40% reduction in baseline LDL-C within 24 months was classified as a sub-optimal statin response. Read More

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http://dx.doi.org/10.1136/heartjnl-2018-314253DOI Listing

iPCSK9 treatment of Familial Hypercholesterolemia in a patient diagnosed as Congenital Muscular Dystrophy with contraindication for statin use.

Clin Investig Arterioscler 2019 Apr 9. Epub 2019 Apr 9.

Unidad de Lípidos, Servicio de Medicina Interna, Hospital San Pedro, Logroño, La Rioja, España.

Statins are contraindicated in patients with myopathies. Until a few years ago, in those patients with Familial Hypercholesterolemia who also presented muscular dystrophies and didńt reach adequate cholesterol plasmatic levels, the next therapeutic ladder was lipoapheresis. When iPCSK9 first appeared, lipoapheresis could be suspended in some of these patients, sustaining nevertheless proper levels of cholesterol. Read More

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http://dx.doi.org/10.1016/j.arteri.2019.01.005DOI Listing

Advances in understanding the regulatory mechanism of cholesterol 7α-hydroxylase.

Biochem Pharmacol 2019 Apr 9. Epub 2019 Apr 9.

Key Laboratory of Biotechnology of Antibiotics, the National Health and Family Planning Commission (NHFPC), Institute of Medicinal Biotechnology, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100050, China.

The conversion of cholesterol to bile acids (BAs) contributes to the elimination of total cholesterol from the body. In addition, manipulating BA homeostasis by modulating cholesterol 7α-hydroxylase (CYP7A1) may affect the metabolic processing of cholesterol, exerting therapeutic effects on hypercholesterolemia and cardiovascular diseases. Multiple mechanisms (such as various nuclear receptors and regulatory factors) are involved in CYP7A1 modulation. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00062952193014
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http://dx.doi.org/10.1016/j.bcp.2019.04.008DOI Listing
April 2019
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Heterozygous familial hypercholesterolaemia in a pair of identical twins: a case report and updated review.

BMC Pediatr 2019 Apr 11;19(1):106. Epub 2019 Apr 11.

Institute for Pathology, Laboratory and Forensic Medicine (I-PPerForM), Universiti Teknologi MARA (UiTM), Sungai Buloh Campus, Jalan Hospital, 47000, Sungai Buloh, Selangor, Malaysia.

Background: Familial hypercholesterolaemia (FH) is the most common inherited metabolic disease with an autosomal dominant mode of inheritance. It is characterised by raised serum levels of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-c), leading to premature coronary artery disease. Children with FH are subjected to early and enhanced atherosclerosis, leading to greater risk of coronary events, including premature coronary artery disease. Read More

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http://dx.doi.org/10.1186/s12887-019-1474-yDOI Listing
April 2019
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Familial hypercholesterolemia: Experience in the Lipid Clinic of Alava.

Clin Investig Arterioscler 2019 Apr 7. Epub 2019 Apr 7.

Servicio de Endocrinología y Nutrición, Hospital Clínico Universitario Lozano Blesa, Zaragoza, España; Unidad de Lípidos, Sección de Endocrinología y Nutrición, Hospital Santiago, Vitoria-Gasteiz, Álava, España. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S02149168193003
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http://dx.doi.org/10.1016/j.arteri.2019.02.001DOI Listing
April 2019
1 Read

Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.

Lipids Health Dis 2019 Apr 11;18(1):95. Epub 2019 Apr 11.

Department of Cardiology, Peking University People's Hospital, Xizhimen South Rd. No.11, Xicheng district, Beijing, 100044, China.

Background: The incidence of premature myocardial infarction (PMI) has gradually increased in recent years. Genetics plays a central role in the development of PMI. Familial hypercholesterolemia (FH) is one of the most common genetic disorders of cholesterol metabolism leading to PMI. Read More

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http://dx.doi.org/10.1186/s12944-019-1042-3DOI Listing
April 2019
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Ethnic access to child-parent screening for familial hypercholesterolaemia.

Eur J Prev Cardiol 2019 Apr 11:2047487319843668. Epub 2019 Apr 11.

Wolfson Institute of Preventive Medicine, Queen Mary University of London, UK.

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http://dx.doi.org/10.1177/2047487319843668DOI Listing

Four Cases of Cholesterol Management Informed by the 2018 American Heart Association/American College of Cardiology Multisociety Guideline on the Management of Blood Cholesterol.

JAMA Cardiol 2019 Apr 10. Epub 2019 Apr 10.

Division of Cardiology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.

These 4 hypothetical cases highlight some of the new features in the 2018 American Heart Association/American College of Cardiology multisociety cholesterol management guidelines. Topics include management issues in a secondary prevention patient judged to be at very high risk of another event, a patient with familial hypercholesterolemia with a low-density lipoprotein cholesterol level of 190 mg/dL or greater (to convert to millimoles per liter, multiply by 0.0259), a primary prevention patient with intermediate (7. Read More

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http://dx.doi.org/10.1001/jamacardio.2019.0771DOI Listing

Prevalence of Achilles tendon xanthoma and familial hypercholesterolemia in patients with coronary artery disease undergoing percutaneous coronary intervention.

Heart Vessels 2019 Apr 9. Epub 2019 Apr 9.

Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba, 260-8677, Japan.

Familial hypercholesterolemia (FH) is reportedly associated with the development of coronary artery disease (CAD), especially acute coronary syndrome (ACS). However, the prevalence of FH in patients with stable CAD is still unclear. The aim of this study was to investigate the prevalence of Achilles tendon xanthoma (ATX) and heterozygous FH in patients with stable CAD and ACS undergoing percutaneous coronary intervention (PCI). Read More

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http://dx.doi.org/10.1007/s00380-019-01400-6DOI Listing
April 2019
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Healthy Nordic Diet Modulates the Expression of Genes Related to Mitochondrial Function and Immune Response in Peripheral Blood Mononuclear Cells from Subjects with the Metabolic Syndrome-A SYSDIET Sub-Study.

Mol Nutr Food Res 2019 Apr 9:e1801405. Epub 2019 Apr 9.

A. Rundblad, K. B Holven, S. M. Ulven, Department of Nutrition, Institute for Basic Medical Sciences, University of Oslo, Norway.

Scope: To explore the effect of a healthy Nordic diet on the global transcriptome profile in peripheral blood mononuclear cells (PBMCs) of subjects with the metabolic syndrome.

Methods And Results: Subjects with the metabolic syndrome underwent an 18/24 week randomized intervention study comparing an isocaloric healthy Nordic diet with an average habitual Nordic diet served as control (SYSDIET study). Altogether, 68 participants were included. Read More

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http://dx.doi.org/10.1002/mnfr.201801405DOI Listing
April 2019
1 Read
4.603 Impact Factor

Lay Perspectives on Receiving Different Types of Genomic Secondary Findings: a Qualitative Vignette Study.

J Genet Couns 2019 Apr 14;28(2):343-354. Epub 2018 Dec 14.

Department of Social Research, University of Helsinki, Unioninkatu 37, P.O. Box 54, 00014, Helsinki, Finland.

Genome-wide sequencing may generate secondary findings (SFs). It is recommended that validated, clinically actionable SFs are reported back to patients/research participants. To explore publics' perspectives on the best ways to do this, we performed a vignette study among Finnish adults. Read More

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http://dx.doi.org/10.1007/s10897-018-0288-7DOI Listing
April 2019
4 Reads

Analysis of S100A12 plasma levels in hyperlipidemic subjects with or without familial hypercholesterolemia.

Acta Diabetol 2019 Apr 8. Epub 2019 Apr 8.

Department of Clinical and Experimental Medicine, Internal Medicine, Garibaldi Hospital, University of Catania, Via Palermo, 636 95122, Catania, Italy.

Aims: Inflammation is a key regulatory process that links hypercholesterolemia and immune mechanisms promoting atherosclerosis. Inflammatory biomarkers may be helpful to better define the atherosclerotic burden in patients with high cholesterol levels such as familial hypercholesterolemia (FH). Our aim was to evaluate the concentration of S100A12 protein in FH patients and its association with pulse wave velocity (PWV). Read More

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http://dx.doi.org/10.1007/s00592-019-01338-1DOI Listing
April 2019
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Prevalence of heterozygous familial hypercholesterolemia and combined hyperlipidemia phenotype in very young survivors of myocardial infarction and their association with the severity of atheromatous burden.

J Clin Lipidol 2019 Mar 11. Epub 2019 Mar 11.

Department of Cardiology, 401 General Military Hospital of Athens, Athens, Greece.

Background: Heterozygous familial hypercholesterolemia (HeFH) and combined hyperlipidemia (CHL) phenotype are associated with premature myocardial infarction (MI).

Objective: To assess the prevalence of HeFH and CHL phenotype among young survivors of MI and compare patients' characteristics with these 2 lipid disorders.

Methods: We recruited 382 young survivors of MI (≤40 years). Read More

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http://dx.doi.org/10.1016/j.jacl.2019.02.007DOI Listing
March 2019
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Keep recycling going: new approaches to reduce LDL-C.

Biochem Pharmacol 2019 Apr 3. Epub 2019 Apr 3.

Fox Chase Cancer Center, 333 Cotman Ave, Philadelphia, 19111, United States; Holy Family University, Frankford Ave, Philadelphia, 19114, United States. Electronic address:

Hypercholesterolemia represents a leading cause in the development of atherosclerotic plaques, increasing the risk for ACVS. It actually counts as a major cause of cardiovascular disease etiopathogenesis. The causes of hypercholesterolemia are multifactorial, spanning from genetic constitution, age, sex, to sedentary lifestyle and diets rich in sugars and lipids. Read More

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http://dx.doi.org/10.1016/j.bcp.2019.04.003DOI Listing
April 2019
2 Reads

Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.

Front Physiol 2019 20;10:280. Epub 2019 Mar 20.

Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Familial hypercholesterolemia (FH) greatly facilitates the development of cardiovascular disease (CVD). Without timely treatment, the incidence of coronary heart disease (CHD) in patients with FH is 3 to 4 times that in non-FH patients, and the onset of CVD would be advanced by approximately 10 years. There is ample evidence that the diagnosis and adequate treatment of FH are not properly considered for all ethnicities. Read More

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https://www.frontiersin.org/article/10.3389/fphys.2019.00280
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http://dx.doi.org/10.3389/fphys.2019.00280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435575PMC
March 2019
7 Reads

Case report: The efficiency and safety of lomitapide in a homozygous familial hypercholesterolemic child.

J Clin Lipidol 2019 Mar 11. Epub 2019 Mar 11.

Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil; Hospital Israelita Albert Einstein, Sao Paulo, Brazil. Electronic address:

We report for the first time the efficiency and safety of a 49-month compassionate use of the microsomal transfer protein inhibitor lomitapide in a child with homozygous familial hypercholesterolemia. On average, 20 mg of lomitapide caused a 37% reduction in low-density lipoprotein cholesterol levels on top of ezetimibe and atorvastatin. The drug was well tolerated with no changes in liver enzymes and occurrence of steatosis on hepatic ultrasound. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S19332874193004
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http://dx.doi.org/10.1016/j.jacl.2019.03.001DOI Listing
March 2019
2 Reads

Review of the long-term safety of lomitapide: a microsomal triglycerides transfer protein inhibitor for treating homozygous familial hypercholesterolemia.

Expert Opin Drug Saf 2019 Apr 4. Epub 2019 Apr 4.

a Clinical Lipidology and Rare Lipid Disorders Unit, Community Genomic Medicine Center, Department of Medicine , Université de Montréal and ECOGENE-21 Clinical and Translational Research Center , Chicoutimi , Québec , Canada.

Introduction: Homozygous familial hypercholesterolemia (HoFH) is a rare and life-threatening lipid disorder characterized by extremely elevated low-density lipoprotein-cholesterol (LDL-C) concentrations and premature atherosclerotic cardiovascular disease (CVD). Conventional lipid-lowering agents remain insufficient in managing this disease, which emphasize the unmet medical need for potential therapies capable of lowering LDL-C and decreasing CVD risk in this patient population. Areas covered: Novel LDL receptor (LDLR) independent drugs have been recently approved or are in development for the treatment of HoFH, including lomitapide (Juxtapid®). Read More

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http://dx.doi.org/10.1080/14740338.2019.1602606DOI Listing
April 2019
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What special considerations must be made for the pharmacotherapeutic management of heterozygous familial hypercholesterolemia?

Expert Opin Pharmacother 2019 Apr 1:1-6. Epub 2019 Apr 1.

a First Propedeutic Department of Internal Medicine, Medical School , Aristotle University of Thessaloniki, AHEPA Hospital , Thessaloniki , Greece.

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http://dx.doi.org/10.1080/14656566.2019.1598971DOI Listing
April 2019
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Atypical familial dysbetalipoproteinemia associated with high polygenic cholesterol and triglyceride scores treated with ezetimibe and evolocumab.

J Clin Lipidol 2019 Mar 6. Epub 2019 Mar 6.

Department of Medicine and Robarts Research Institute, University of Western Ontario, London, Ontario, Canada.

We present a 37-year-old man diagnosed with familial dysbetalipoproteinemia who presented with the severe hyperlipidemic phenotype. None of the usual metabolic triggers were found to explain his severe lipid abnormalities. Genetic analysis revealed the expected APOE E2/E2 genotype, but no other mutations were found to explain any monogenic dyslipidemia or syndrome. Read More

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http://dx.doi.org/10.1016/j.jacl.2019.02.006DOI Listing
March 2019
6 Reads

Aligning Adult and Pediatric Blood Pressure Guidelines.

Hypertension 2019 May;73(5):938-943

University of Maryland School of Medicine, Baltimore (C.B.-S.).

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.119.12653DOI Listing
May 2019
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Clinical management, psychosocial characteristics, and quality of life in patients with homozygous familial hypercholesterolemia undergoing LDL-apheresis in Turkey: Results of a nationwide survey (A-HIT1 registry).

J Clin Lipidol 2019 Feb 21. Epub 2019 Feb 21.

Department of Cardiology, Hacettepe University Medical Faculty, Ankara, Turkey.

Background: Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening inherited disease leading to early-onset atherosclerosis and associated morbidity. Because of its rarity, longitudinal data on the management of HoFH in the real world are lacking, particularly on the impact the condition has on quality of life (QoL), including the impact of the extracorporeal lipid removal procedure apheresis (LA).

Methods: The A-HIT1 study included 88 patients with HoFH aged ≥12 years receiving regular LA in 19 centers in Turkey. Read More

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http://dx.doi.org/10.1016/j.jacl.2019.02.001DOI Listing
February 2019
2 Reads

Diagnosis of Familial Hypercholesterolaemia on First Sight? The Role of the Ophthalmologist in Identifying Patients with Familial Hypercholesterolaemia.

Cesk Slov Oftalmol 2019 ;74(4):127-131

Familial hypercholesterolaemia (FH) is the most common congenital metabolic disorder characterised by the accumulation of lipid particles in the vascular wall thereby leading to premature development of atherosclerosis. It is a serious condition that, if left untreated, can lead to premature death in a cardiovascular event already in the third or fourth decade of life. According to recent studies, the frequency of heterozygotes in the general population is 1: 250, suggesting that there may be up to 40,000 of these patients in the Czech Republic alone. Read More

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http://dx.doi.org/10.31348/2018/1/1-4-2018DOI Listing
January 2019
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A review of gene- and cell-based therapies for familial hypercholesterolemia.

Pharmacol Res 2019 Mar 22;143:119-132. Epub 2019 Mar 22.

Biotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran; Neurogenic Inflammation Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; School of Pharmacy, Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address:

Familial hypercholesterolemia (FH) is a genetic autosomal dominant disorder caused by an impaired receptor-mediated low-density lipoprotein (LDL) removal from the circulation, mainly due to disruptive autosomal co-dominant mutations in the LDL receptor (LDLr) gene, but also less frequently in the apolipoprotein B100 (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. A rare form of autosomal recessive FH has been also described due to LDLr adaptor protein 1 (LDLRAP1) gene mutations. FH is characterized by very high levels of plasma LDL cholesterol associated with the high incidence of premature atherosclerotic cardiovascular disease (CVD). Read More

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http://dx.doi.org/10.1016/j.phrs.2019.03.016DOI Listing
March 2019
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LDL-cholesterol goal achievement, cardiovascular disease, and attributed risk of Lp(a) in a large cohort of predominantly genetically verified familial hypercholesterolemia.

J Clin Lipidol 2019 Jan 30. Epub 2019 Jan 30.

Norwegian National Advisory Unit on Familial Hypercholesterolemia, Department of Endocrinology, Morbid Obesity and Preventive Medicine, Oslo University Hospital, Oslo, Norway; Faculty of Medicine, Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.

Background: Current treatment goals for familial hypercholesterolemia (FH) recommended by the European Atherosclerosis Society (EAS) are LDL-C ≤2.5 mmol/L (∼100 mg/dL) or ≤1.8 mmol/L (∼70 mg/dL) in very high-risk subjects. Read More

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http://dx.doi.org/10.1016/j.jacl.2019.01.010DOI Listing
January 2019
3 Reads

Evaluating recruitment strategies for AUSPICE, a large Australian community-based randomised controlled trial.

Med J Aust 2019 Mar 25. Epub 2019 Mar 25.

University of Newcastle, Newcastle, NSW.

Objectives: To examine the effectiveness of different strategies for recruiting participants for a large Australian randomised controlled trial (RCT), the Australian Study for the Prevention through Immunisation of Cardiovascular Events (AUSPICE).

Design, Setting, Participants: Men and women aged 55-60 years with at least two cardiovascular risk factors (hypertension, hypercholesterolaemia, overweight/obesity) were recruited for a multicentre placebo-controlled RCT assessing the effectiveness of 23-valent pneumococcal polysaccharide vaccine (23vPPV) for preventing cardiovascular events.

Methods: Invitations were mailed by the Australian Department of Human Services to people in the Medicare database aged 55-60 years; reminders were sent 2 weeks later. Read More

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http://dx.doi.org/10.5694/mja2.50117DOI Listing
March 2019
5 Reads
4.089 Impact Factor

Leveraging Implementation Science to Address Health Disparities in Genomic Medicine: Examples from the Field.

Ethn Dis 2019 21;29(Suppl 1):187-192. Epub 2019 Feb 21.

Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia.

The integration of genomic data into screening, prevention, diagnosis, and treatment for clinical and public health practices has been slow and challenging. Implementation science can be applied in tackling the barriers and challenges as well as exploring opportunities and best practices for integrating genomic data into routine clinical and public health practice.In this article, we define the state of disparities in genomic medicine and focus predominantly on late-stage research findings. Read More

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http://dx.doi.org/10.18865/ed.29.S1.187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428174PMC
February 2019
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How much further do we need to decrease LDL cholesterol levels in heterozygous familial hypercholesterolemia?

Atherosclerosis 2019 Mar 9. Epub 2019 Mar 9.

Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, 5-7-1 Fujishirodai, Suita, Osaka, 565-8565, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2019.03.003DOI Listing
March 2019
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Modifying inter-cistronic sequence significantly enhances IRES dependent second gene expression in bicistronic vector: Construction of optimised cassette for gene therapy of familial hypercholesterolemia.

Noncoding RNA Res 2019 Mar 22;4(1):1-14. Epub 2018 Nov 22.

Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, P.O. Box 715, Makkah, 21955, Saudi Arabia.

Internal ribosome entry site (IRES) sequences have become a valuable tool in the construction of gene transfer and therapeutic vectors for multi-cistronic gene expression from a single mRNA transcript. The optimal conditions for effective use of this sequence to construct a functional expression vector are not precisely defined but it is generally assumed that the internal ribosome entry site dependent expression of the second gene in such as cassette is less efficient than the cap-dependent expression of the first gene. Mainly tailoring inter-cistronic sequence significantly enhances IRES dependent second gene expression in bicistronic vector further in construction of optimised cassette for gene therapy of familial hypercholesterolemia. Read More

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http://dx.doi.org/10.1016/j.ncrna.2018.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6404380PMC
March 2019
2 Reads

PCSK9 in HIV infection: New opportunity or red herring?

Atherosclerosis 2019 Mar 9. Epub 2019 Mar 9.

Centro Dislipidemie, A.S.S.T. Grande Ospedale Metropolitano Niguarda, Milan, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosis.2019.03.002DOI Listing
March 2019
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Function and Immunogenicity of Gene-corrected iPSC-derived Hepatocyte-Like Cells in Restoring Low Density Lipoprotein Uptake in Homozygous Familial Hypercholesterolemia.

Sci Rep 2019 Mar 18;9(1):4695. Epub 2019 Mar 18.

Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine, Takara-machi 13-1, Kanazawa, Ishikawa, 920-8641, Japan.

Gene correction of induced pluripotent stem cells (iPSCs) has therapeutic potential for treating homozygous familial hypercholesterolemia (HoFH) associated with low-density lipoprotein (LDL) receptor (LDLR) dysfunction. However, few data exist regarding the functional recovery and immunogenicity of LDLR gene-corrected iPSC-derived hepatocyte-like cells (HLCs) obtained from an HoFH patient. Therefore, we generated iPSC-derived HLCs from an HoFH patient harbouring a point mutation (NM_000527. Read More

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http://www.nature.com/articles/s41598-019-41056-w
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http://dx.doi.org/10.1038/s41598-019-41056-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423040PMC
March 2019
9 Reads

Fasting glucose and insulin resistance trajectories during young adulthood and mid-life cardiac structure and function.

J Diabetes Complications 2019 May 6;33(5):356-362. Epub 2019 Feb 6.

Northwestern University, Chicago, IL, United States of America.

Aims: We assessed whether fasting glucose (FG) and insulin resistance (IR) trajectories during young adulthood are associated with changes in cardiac structure and function.

Methods: We used data from the Coronary Artery Risk Development in Young Adults (CARDIA) Study (baseline: 1985-1986). Echocardiography was performed after 25 (Y25) and 30 years of follow-up. Read More

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http://dx.doi.org/10.1016/j.jdiacomp.2019.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451883PMC
May 2019
1 Read

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

High Prevalence of Cerebral Small Vessel Disease on 7T Magnetic Resonance Imaging in Familial Hypercholesterolemia.

J Atheroscler Thromb 2019 Mar 15. Epub 2019 Mar 15.

Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University.

Aim: It remains unclear whether elevated low-density lipoprotein cholesterol (LDL-C) is a risk factor for cerebral vascular disease. Familial hypercholesterolemia (FH) is the most appropriate model for understanding the effects of excess LDL-C because affected individuals have inherently high levels of circulating LDL-C. To clarify the effects of hypercholesterolemia on cerebral small vessel disease (SVD), we investigated cerebrovascular damage in detail due to elevated LDL-C using high resolution brain magnetic resonance imaging (MRI) in patients with FH. Read More

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http://dx.doi.org/10.5551/jat.48553DOI Listing
March 2019
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Review of the scientific evolution of gene therapy for the treatment of homozygous familial hypercholesterolaemia: past, present and future perspectives.

J Med Genet 2019 Mar 15. Epub 2019 Mar 15.

Vascular Medicine and Metabolism Unit, Research Unit on Lipids and Atherosclerosis, 'Sant Joan' University Hospital, Universitat Rovira i Virgili, Institut de Investigació Sanitaria Pere Virgili (IISPV), Spanish Biomedical Research Centre in Diabetes and Associated Metabolic Disorders (CIBERDEM), Reus, Spain.

Familial hypercholesterolaemia (FH) is a devastating genetic disease that leads to extremely high cholesterol levels and severe cardiovascular disease, mainly caused by mutations in any of the main genes involved in low-density lipoprotein cholesterol (LDL-C) uptake. Among these genes, mutations in the LDL receptor () are responsible for 80%-90% of the FH cases. The severe homozygous variety (HoFH) is not successfully treated with standard cholesterol-lowering therapies, and more aggressive strategies must be considered to mitigate the effects of this disease, such as weekly/biweekly LDL apheresis. Read More

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http://dx.doi.org/10.1136/jmedgenet-2018-105713DOI Listing
March 2019
5 Reads

Achilles tendon ultrasonography - A useful screening tool for cardiovascular risk estimation in patients with severe hypercholesterolemia.

Atheroscler Suppl 2019 Mar 29;36:6-11. Epub 2019 Jan 29.

Children's Hospital, Vilnius University Hospital Santaros Klinikos, Lithuania.

Background And Aims: Achilles tendon lesions have long been associated with genetic defects in lipid metabolism and increased risk of cardiovascular diseases (CVD). With this study we aimed to evaluate the usefulness of Achilles tendon ultrasonography in identifying people at greater risk among subjects with severe hypercholesterolemia (SH) in a high-risk population.

Methods: During the period of 2016-2017 a total of 213 participants were enrolled in this case-control study. Read More

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http://dx.doi.org/10.1016/j.atherosclerosissup.2019.01.002DOI Listing
March 2019
2 Reads

Investigating the association between familial hypercholesterolemia and perceived depression.

Atheroscler Suppl 2019 Mar 29;36:31-36. Epub 2019 Jan 29.

Department of Internal Medicine and Cardiovascular Center, National Taiwan University Hospital, Taipei, 10002, Taiwan; Institute of Occupational Medicine and Industrial Hygiene, National Taiwan University College of Public Health, Taipei, 10020, Taiwan; Department of Environmental and Occupational Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taiwan. Electronic address:

Background And Aims: Inherited familial hypercholesterolemia (FH) increases cardiovascular risks, but perceived depression in FH is unknown. This study aims to explore the association between the FH and perceived depression.

Methods: This study was a hospital-based design, we started to recruit clinical diagnosis of phenotypic FH since 2014 for the Ten Countries Study in the Asia-Pacific region. Read More

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http://dx.doi.org/10.1016/j.atherosclerosissup.2019.01.007DOI Listing
March 2019
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Variable expression and penetrance in Portuguese families with Familial Hypercholesterolemia with mild phenotype.

Authors:
I M Gaspar A Gaspar

Atheroscler Suppl 2019 Mar;36:28-30

Metabolic Unit, Pediatric Department, Santa Maria Hospital, Lisboa, Portugal.

Familial hypercholesterolemia is an Mendelian dominant disorder characterized by defects of the low density lipoprotein receptor (LDLR) that result in a defective removal of LDL from plasma, which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and arteries (atherosclerosis). Diagnosis severe clinical phenotype FH with Dutch Lipid Clinic Network Criteria, encompassing history of premature ASCVD, tendon xanthomas, and a family history of hypercholesterolemia and premature ASCVD in relatives is rare in the Portuguese FH patients. There is a variability of the phenotype in FH individuals with clinical diagnosis or genetic mutation (carriers and patients) probably due to environmental factors in the last century, a Mediterranean diet, or a diet without fat food, trans fat food, no smoking, no sedentary life that can interfere with our metabolism, or are consequences of polygenic, epigenetic, acquired defects, modifiers genes and beta-globin asymptomatic carriers. Read More

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http://dx.doi.org/10.1016/j.atherosclerosissup.2019.01.006DOI Listing
March 2019
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Establishing a familial hypercholesterolaemia register - The first year.

Authors:
Myra Tilney

Atheroscler Suppl 2019 Mar 2;36:24-27. Epub 2019 Feb 2.

Department of Medicine, Faculty of Medicine and Surgery, Mater Dei Hospital, University of Malta, B'kara Bypass, Malta; Dept of Primary Care & Public Health, School of Public Health, 319, Global eHealth Unit, Imperial College London, Reynolds Bldg, St Dunstan's Rd, London, W6 8RP, UK. Electronic address:

Background And Aims: Familial hypercholesterolemia (FH) is an autosomal dominant condition raising the risk of premature cardiovascular disease up to twentyfold.[1] [2] It is under-diagnosed and undertreated, in spite of availability of effective treatment. Registers are recommended to assist in the recognition and improvement of the condition since treatment reduces morbidity and mortality. Read More

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http://dx.doi.org/10.1016/j.atherosclerosissup.2019.01.005DOI Listing
March 2019
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Percutaneous coronary intervention for a Chinese familial hypercholesterolemia homozygous under the guidance of optical coherence tomography.

Atheroscler Suppl 2019 Mar;36:19-23

Beijing Anzhen Hospital, Capital Medical University - Beijing Institute of Heart, Lung and Blood Vessel Diseases, 100029, China; Department of Atherosclerosis, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029, China. Electronic address:

Homozygous familial hypercholesterolemia developed into severe cardiovascular consequences early. Untreated HoFH usually cannot survive over 30 years old. Acute coronary syndrome(ACS) caused by plaque rupture is one of the main causes of death in HoFH. Read More

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http://dx.doi.org/10.1016/j.atherosclerosissup.2019.01.004DOI Listing
March 2019
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Familial hypercholesterolemia in China half a century: A review of published literature.

Atheroscler Suppl 2019 Mar 29;36:12-18. Epub 2019 Jan 29.

Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases Beijing, 100029, China; Department of Atherosclerosis, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029, China. Electronic address:

Aims: To investigate the status of familial hypercholesterolemia (FH) research and the characteristics of patients with FH in China.

Methods: Published papers in Chinese or English language from PubMed, SinoMed and CNKI databases from 1971 to March 2018 were searched using 'Familial hypercholesterolemia', 'Chinese' and 'Han' as keywords. A systematic review of studies on familial hypercholesterolemia was then conducted. Read More

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http://dx.doi.org/10.1016/j.atherosclerosissup.2019.01.003DOI Listing
March 2019
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The frequency of familial hypercholesterolemia amongst patients in the outpatient clinic of the tertiary specialized cardiology center in Kyrgyzstan.

Atheroscler Suppl 2019 Mar 30;36:1-5. Epub 2019 Jan 30.

Kyrgyz State Medical Academy Named After I.K.Akhunbaev, 720020, 92, Akhunbaeva Str, Bishkek, Kyrgyzstan; National Center of Cardiology and Internal Medicine Named After Academician Mirrakhimov M.M., 720000, 3, Togolok Moldo Str, Bishkek, Kyrgyzstan.

Background: Familial hypercholesterolemia (FH) is frequently underdiagnosed. Prevalence of the FH in Kyrgyzstan is unknown.

Aim: to investigate the prevalence of FH amongst patients in the outpatient settings of the tertiary cardiologic center in Kyrgyzstan. Read More

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http://dx.doi.org/10.1016/j.atherosclerosissup.2019.01.001DOI Listing
March 2019
2 Reads

Evolocumab, a proprotein convertase subtilisin/kexin type 9 inhibitor, promotes angiogenesis in vitro.

Can J Physiol Pharmacol 2019 Mar 15:1-7. Epub 2019 Mar 15.

c Applied Physiology Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran.

The proprotein convertases family is involved in several physiological processes such as cell growth, migration, and angiogenesis, and also in different pathological conditions. Evolocumab, an inhibitor of proprotein convertase subtilisin/kexin type 9 (PCSK9), has recently been approved for treatment of hypercholesterolemia. This study aimed to investigate the effect of evolocumab on angiogenesis in human umbilical vein endothelial cells (HUVECs). Read More

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http://dx.doi.org/10.1139/cjpp-2018-0542DOI Listing
March 2019
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Risk of Ischemic Stroke and Peripheral Arterial Disease in Heterozygous Familial Hypercholesterolemia: A Meta-Analysis.

Angiology 2019 Mar 14:3319719835433. Epub 2019 Mar 14.

1 Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

Heterozygous familial hypercholesterolemia (HeFH) is a common genetic disorder predisposing affected individuals to lifelong low-density lipoprotein cholesterol (LDL-C) elevation and coronary heart disease. However, whether HeFH increases the risk of peripheral arterial disease (PAD) and ischemic stroke is undetermined. We examined associations between HeFH and these outcomes in a comprehensive systematic review and meta-analysis. Read More

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http://dx.doi.org/10.1177/0003319719835433DOI Listing
March 2019
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Identification of novel serum markers for the progression of coronary atherosclerosis in WHHLMI rabbits, an animal model of familial hypercholesterolemia.

Atherosclerosis 2019 Feb 28;284:18-23. Epub 2019 Feb 28.

Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan.

Background And Aims: The development of serum markers specific for coronary lesions is important to prevent coronary events. However, analyses of serum markers in humans are affected by environmental factors and non-target diseases. Using an appropriate model animal can reduce these effects. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2019.02.020DOI Listing
February 2019
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Response to Letter to the Editor: "Familial hypercholesterolemia and increased risk of peripheral arterial disease. Is there a role for lipoprotein(a)? ".

J Clin Endocrinol Metab 2019 Mar 14. Epub 2019 Mar 14.

Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

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http://dx.doi.org/10.1210/jc.2019-00532DOI Listing
March 2019
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Letter to the Editor: "Familial hypercholesterolemia and increased risk of peripheral artery disease. Is there a role for lipoprotein (a)?"

J Clin Endocrinol Metab 2019 Mar 14. Epub 2019 Mar 14.

Unit of Reproductive Endocrinology, 1st Department of Obstetrics and Gynecology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.

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http://dx.doi.org/10.1210/jc.2019-00413DOI Listing
March 2019
1 Read