9,944 results match your criteria Hypercholesterolemia Familial


Is therapeutic inertia present in hyperglycaemia, hypertension and hypercholesterolaemia management among adults with type 2 diabetes in three health clinics in Malaysia? a retrospective cohort study.

BMC Fam Pract 2021 Jun 11;22(1):111. Epub 2021 Jun 11.

Seri Kembangan Health Clinic, Taman Muhibbah, Jalan Besar43300 Seri Kembangan, Selangor, Malaysia.

Background: Good-quality evidence has shown that early glycaemic, blood pressure and LDL-cholesterol control in people with type 2 diabetes (T2D) leads to better outcomes. In spite of that, diseases control have been inadequate globally, and therapeutic inertia could be one of the main cause. Evidence on therapeutic inertia has been lacking at primary care setting. Read More

View Article and Full-Text PDF

[Real-life efficacy and safety of PCSK9 inhibitors treatment: Experience in three hospitals in Asturias].

Semergen 2021 Jun 7. Epub 2021 Jun 7.

Hospital Universitario Central de Asturias, Oviedo, Asturias, España; Grupo de investigación en Endocrinología, Nutrición, Diabetes y Obesidad. Instituto de Investigación del Principado de Asturias (ISPA).

Background: Inhibitors of proprotein convertase subtilisin/kexin type9 (PCSK9 inhibitors) are a treatment option for those patients with familial hypercholesterolemia or in secondary prevention who do not reach the LDL-C target with other therapeutic measures. The aim of this study is to assess the effectiveness and safety of these drugs.

Methods: Retrospective, multicentric, descriptive study. Read More

View Article and Full-Text PDF

Factors Associated with Carotid Atherosclerosis and Achilles Tendon Thickness in Japanese Patients with Familial Hypercholesterolemia: A Subanalysis of the Familial Hypercholesterolemia Expert Forum (FAME) Study.

J Atheroscler Thromb 2021 Jun 10. Epub 2021 Jun 10.

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

Aims: Familial hypercholesterolemia (FH) is characterized by high low-density lipoprotein (LDL) cholesterol levels, xanthomas including Achilles tendon thickening, and premature coronary artery disease (CAD). Carotid intima-media thickness (IMT) is a well-established surrogate marker for CAD in FH and Achilles tendon thickening is a specific physical finding in patients with FH. The objective of the present study was to identify factors associated with carotid IMT and Achilles tendon thickness in FH heterozygotes on lipid-lowering therapy. Read More

View Article and Full-Text PDF

Implementation of a Machine-Learning Algorithm in the Electronic Health Record for Targeted Screening for Familial Hypercholesterolemia: A Quality Improvement Study.

Circ Cardiovasc Qual Outcomes 2021 Jun 10:CIRCOUTCOMES120007641. Epub 2021 Jun 10.

Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia. (S.S., P.L., A.B., M.C., J.H., D.S., G.W., M.R., D.R., D.J.).

View Article and Full-Text PDF

Exposure to alirocumab during the first trimester of pregnancy: A case report.

Birth Defects Res 2021 Jun 8. Epub 2021 Jun 8.

Service of Endocrinology, Diabetes and Metabolism, Department of Medicine, Lausanne University Hospital & University of Lausanne, Lausanne, Switzerland.

Background: Familial hypercholesterolemia can be efficiently treated with combined lipid-lowering drugs. Lipid-lowering drugs are usually withdrawn for pregnancy and breastfeeding, ideally preconception, followed by lipid apheresis, however, careful plans can be precipitated due to unexpected pregnancy.

Case: A 28-year old woman with familial hypercholesterolemia due to heterozygous LDLR mutations had an LDL-cholesterol level at 14. Read More

View Article and Full-Text PDF

Switching from lipoprotein apheresis to evolocumab in FH siblings on hemodialysis: case reports and discussion.

CEN Case Rep 2021 Jun 7. Epub 2021 Jun 7.

Zenjinkai Yokohama Daiichi Hospital, 2-5-15 Takashima Nishi-ku, Yokohama, Kanagawa, 220-0011, Japan.

Familial hypercholesterolemia (FH) and chronic kidney disease, especially end-stage renal disease (ESRD), are common and put patients at a high risk of developing atherosclerotic cardiovascular disease (ASCVD). ESRD concomitant with FH may further increase the risk of ASCVD. Achieving target levels of low-density lipoprotein cholesterol (LDL-C) is difficult owing to the limitations of statin administration due to its side effects in ESRD. Read More

View Article and Full-Text PDF

Myocardial strain impairment, heterozygous familial hypercholesterolemia and systemic arterial hypertension: Is there a link?

Int J Cardiol Hypertens 2021 Jun 11;9:100086. Epub 2021 May 11.

Sapienza University, Dept. of Medicine and Cardiology, Via Lima 35, Rome, 00198, Italy.

Dyslipidemia is known as a strong risk factor for premature atherosclerotic cardiovascular disease and increased morbidity and mortality and can have an adverse effect on left ventricular function due to direct or indirect macrovascular and/or microvascular damage. Speckle-tracking echocardiography allows the assessment of subclinical cardiac dysfunction in different diseases on the basis of myocardial deformation indices, and decrease in longitudinal and circumferential strain was shown in patients with heterozygous familial hypercholesterolemia (heFH) without comorbidities. In this issue of the journal a new study presents the results in a well-defined population which included asymptomatic treatment-naive heFH individuals without known coronary/peripheral arterial disease, with normal left ventricular ejection fraction and no other risk factors as formal arterial hypertension or diabetes mellitus. Read More

View Article and Full-Text PDF

Reduced global longitudinal strain at rest and inadequate blood pressure response during exercise treadmill testing in male heterozygous familial hypercholesterolemia patients.

Int J Cardiol Hypertens 2021 Jun 20;9:100083. Epub 2021 Apr 20.

National and Kapodistrian University of Athens, Division of Experimental Surgery, Greece.

Background: Heterozygous familial hypercholesterolemia (heFH) is a genetic disorder leading to premature coronary artery disease (CAD). We hypothesized that the subclinical pathophysiologic consequences of hypercholesterolemia may be detected before the occurrence of clinically overt CAD by stress testing and myocardial strain imaging.

Patients-methods: We evaluated the treadmill tests (ETTs) of 46 heFH men without known arterial hypertension/diabetes mellitus/vasculopathy like CAD and of 39 healthy men matched for age, baseline systolic/diastolic blood pressure (BP) and heart rate (HR), using Bruce protocol. Read More

View Article and Full-Text PDF

, , Genes as Feasible Markers for Premature Coronary Heart Disease Risk.

Front Genet 2021 20;12:598296. Epub 2021 May 20.

Department of Tropical Pathology, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand.

Beyond non-genetic risk factors, familial hypercholesterolemia (FH) plays a major role in the development of CHD. FH is a genetic disorder characterized by heritable and severely elevated levels of low-density lipoprotein (LDL) cholesterol, which can lead to premature cardiovascular disease, particularly familial coronary heart disease (FH-CHD). To explore genes indicating a risk of familial (premature) coronary heart disease (FH-CHD) development in FH, 30 Thai male volunteers were enrolled: 7 healthy controls (N), 6 patients with hypercholesterolemia (H), 4 with FH, 10 with CHD, and 3 with FH-CHD. Read More

View Article and Full-Text PDF

Implantation of a biochemical and genetic screening programme for family hypercholesterolaemia. Collaboration between the clinical laboratory and lipid units: Design of the ARIAN Project.

Clin Investig Arterioscler 2021 Jun 2. Epub 2021 Jun 2.

Servicio de Medicina Interna y Unidad de Lípidos, Hospital Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga, Universidad de Málaga, Málaga, España.

Introduction And Objective: Familial hypercholesterolaemia (FH) is the most common genetic disorder associated with premature coronary artery disease due to the presence of LDL-C cholesterol increased from birth. It is underdiagnosed and undertreated. The primary objective of the ARIAN project was to determine the number of patients diagnosed with FH after implementing a new screening procedure from the laboratory. Read More

View Article and Full-Text PDF

Aberrant expression of HDL-bound microRNA induced by a high-fat diet in a pig model: implications in the pathogenesis of dyslipidaemia.

BMC Cardiovasc Disord 2021 Jun 6;21(1):280. Epub 2021 Jun 6.

Key Laboratory of Ministry of Education for Traditional Chinese Medicine Viscera-State Theory and Applications, Liaoning University of Traditional Chinese Medicine, Shenyang, Liaoning, People's Republic of China.

Background: A high-fat diet can affect lipid metabolism and trigger cardiovascular diseases. A growing body of studies has revealed the HDL-bound miRNA profiles in familial hypercholesterolaemia; in sharp contrast, relevant studies on high-fat diet-induced dyslipidaemia are lacking. In the current study, HDL-bound miRNAs altered by a high-fat diet were explored to offer some clues for elucidating their effects on the pathogenesis of dyslipidaemia. Read More

View Article and Full-Text PDF

Familial Hypercholesterolemia in the Arabian Gulf Region: Clinical results of the Gulf FH Registry.

PLoS One 2021 4;16(6):e0251560. Epub 2021 Jun 4.

Department of Cardiac Sciences, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Background And Aims: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder that can result in premature atherosclerotic cardiovascular disease (ASCVD). Limited data are available worldwide about the prevalence and management of FH. Here, we aimed to estimate the prevalence and management of patients with FH in five Arabian Gulf countries (Saudi Arabia, Oman, United Arab Emirates, Kuwait, and Bahrain). Read More

View Article and Full-Text PDF

Beyond Statins and PCSK9 Inhibitors: Updates in Management of Familial and Refractory Hypercholesterolemias.

Curr Cardiol Rep 2021 Jun 3;23(7):83. Epub 2021 Jun 3.

Heart Institute-InCor, University of Sao Paulo Medical School Hospital, Av. Dr Enéas C. Aguiar 44, São Paulo, SP, 05403-900, Brazil.

Purpose Of Review: Elevation in apolipoprotein B-containing lipoproteins in the blood is a cause of atherosclerosis. Statins have changed the preventive cardiology scenario, and more recently monoclonal proprotein convertase subtilisin kexin type 9 (PCSK9) inhibitors were added as robust agents to further reduce pro-atherogenic lipoproteins and therefore prevent cardiovascular events. However, despite this many dyslipidemic individuals persist with inadequate LDL-C levels and still at risk. Read More

View Article and Full-Text PDF

The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.

J Pers Med 2021 May 24;11(6). Epub 2021 May 24.

National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia.

Heterozygous familial hypercholesterolemia (HeFH) is one of the most common genetic conditions but remains substantially underdiagnosed. The aim of our study was to investigate the prevalence of HeFH in the population of 11 different regions of Russia. Individuals were selected from the Epidemiology of Cardiovascular Risk Factors and Diseases in Regions of the Russian Federation Study. Read More

View Article and Full-Text PDF

PCSK9 Biology and Its Role in Atherothrombosis.

Int J Mol Sci 2021 May 30;22(11). Epub 2021 May 30.

Department of Clinical and Biological Sciences, Turin University, I-10043 Orbassano TO, Italy.

It is now about 20 years since the first case of a gain-of-function mutation involving the as-yet-unknown actor in cholesterol homeostasis, proprotein convertase subtilisin/kexin type 9 (PCSK9), was described. It was soon clear that this protein would have been of huge scientific and clinical value as a therapeutic strategy for dyslipidemia and atherosclerosis-associated cardiovascular disease (CVD) management. Indeed, PCSK9 is a serine protease belonging to the proprotein convertase family, mainly produced by the liver, and essential for metabolism of LDL particles by inhibiting LDL receptor (LDLR) recirculation to the cell surface with the consequent upregulation of LDLR-dependent LDL-C levels. Read More

View Article and Full-Text PDF

Alternative C3 Complement System: Lipids and Atherosclerosis.

Int J Mol Sci 2021 May 12;22(10). Epub 2021 May 12.

Cardiovascular Program-ICCC, Research Institute-Hospital Santa Creu i Sant Pau, IIB-Sant Pau, 08025 Barcelona, Spain.

Familial hypercholesterolemia (FH) is increasingly associated with inflammation, a phenotype that persists despite treatment with lipid lowering therapies. The alternative C3 complement system (C3), as a key inflammatory mediator, seems to be involved in the atherosclerotic process; however, the relationship between C3 and lipids during plaque progression remains unknown. The aim of the study was to investigate by a systems biology approach the role of C3 in relation to lipoprotein levels during atherosclerosis (AT) progression and to gain a better understanding on the effects of C3 products on the phenotype and function of human lipid-loaded vascular smooth muscle cells (VSMCs). Read More

View Article and Full-Text PDF

The homeoviscous adaptation to dietary lipids (HADL) hypothesis is probably incorrect.

Am J Clin Nutr 2021 Jun;113(6):1711-1712

From the Norwegian National Advisory Unit on Familial Hypercholesterolemia, Department of Endocrinology, Morbid Obesity and Preventive Medicine, Oslo University Hospital, Oslo, Norway.

View Article and Full-Text PDF

APOE gene variants in primary dyslipidemia.

Atherosclerosis 2021 May 23;328:11-22. Epub 2021 May 23.

Laboratory for Vascular Translational Science (LVTS), INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, Paris, France; Université de Paris, Paris, France. Electronic address:

Apolipoprotein E (apoE) is a major apolipoprotein involved in lipoprotein metabolism. It is a polymorphic protein and different isoforms are associated with variations in lipid and lipoprotein levels and thus cardiovascular risk. The isoform apoE4 is associated with an increase in LDL-cholesterol levels and thus a higher cardiovascular risk compared to apoE3. Read More

View Article and Full-Text PDF

PCSK9 and cancer: Rethinking the link.

Biomed Pharmacother 2021 May 28;140:111758. Epub 2021 May 28.

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

Background: Cancer is emerging as a major problem globally, as it accounts for the second cause of death despite medical advances. According to epidemiological and basic studies, cholesterol is involved in cancer progression and there are abnormalities in cholesterol metabolism of cancer cells including prostate, breast, and colorectal carcinomas. However, the importance of cholesterol in carcinogenesis and thereby the role of cholesterol homeostasis as a therapeutic target is still a debated area in cancer therapy. Read More

View Article and Full-Text PDF

A Narrative Review on Therapeutic Potentials of in Human Disorders.

Evid Based Complement Alternat Med 2021 7;2021:5516450. Epub 2021 May 7.

Medicinal Plants Research Center, Yasuj University of Medical Sciences, Yasuj, Iran.

() is an aquatic vegetable that belongs to the Brassicaceae family, and it often grows near water. In traditional medicine, is a known remedy for hypercholesterolemia, hyperglycemia, hypertension, arthritis, bronchitis, diuresis, odontalgia, and scurvy. It also acts as an antiestrogenic and can be used as a nutritional supplement. Read More

View Article and Full-Text PDF

Familial hypercholesterolemia related admission for acute coronary syndrome in the United States: Incidence, predictors, and outcomes.

J Clin Lipidol 2021 Apr 29. Epub 2021 Apr 29.

Section on Cardiovascular Medicine, Wake Forest University School of Medicine, Winston-Salem, NC, USA. Electronic address:

Background: Individuals with Familial Hypercholesterolemia (FH) are at high risk for atherosclerotic cardiovascular disease (ASCVD) events.

Objectives: The purpose of this study was to evaluate the incidence, predictors, and outcomes of admissions for acute coronary syndromes (ACS) in this high-risk group.

Methods: Utilizing the National Readmission Databases, we identified individuals with or without FH admitted to participating hospitals for ACS. Read More

View Article and Full-Text PDF

Integrated analysis of microRNA and mRNA expression profiles in homozygous familial hypercholesterolemia patients and validation of atherosclerosis associated critical regulatory network.

Genomics 2021 May 28;113(4):2572-2582. Epub 2021 May 28.

Department of Biochemistry and Molecular Biology, School of Basic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China. Electronic address:

Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening genetic disorder characterized by an extremely elevated serum level of low-density lipoprotein cholesterol (LDL-C) and accelerated premature atherosclerotic cardiovascular diseases (ASCVD). However, the detailed mechanism of how the pathogenic mutations of HoFH trigger the acceleration of ASCVD is not well understood. Therefore, we performed high-throughput RNA and small RNA sequencing on the peripheral blood RNA samples of six HoFH patients and three healthy controls. Read More

View Article and Full-Text PDF

Efficacy of PCSK9 inhibitors in the treatment of heterozygous familial hypercholesterolemia: A clinical practice experience.

J Clin Lipidol 2021 May 7. Epub 2021 May 7.

Fundación Hipercolesterolemia Familiar, General Alvarez de Castro 14, E 2800 Madrid, Spain. Electronic address:

Background: PCSK9 inhibitors are a treatment option for patients with familial hypercholesterolemia not on low-density lipoprotein cholesterol goals despite the use of maximally tolerated high intensity-statins dose.

Objective: To evaluate the efficacy of alirocumab and evolocumab in LDL-C reduction and targets attainment in patients with heterozygous familial hypercholesterolemia in clinical practice setting.

Methods: SAFEHEART is an open, long-term prospective study of a cohort of subjects with molecular diagnosis of familial hypercholesterolemia. Read More

View Article and Full-Text PDF

A "rule of thumb" aids evaluation of severe hypercholesterolemia to recognize familial hypercholesterolemia.

Am J Med 2021 May 25. Epub 2021 May 25.

Department of Medicine, Division of Cardiology, Feinberg School of Medicine/Northwestern University. Electronic address:

View Article and Full-Text PDF

Targeting angiopoietin-like 3 (ANGPTL3) in atherosclerosis: from bench to bedside.

Diabetes Obes Metab 2021 May 28. Epub 2021 May 28.

Department of Endocrinology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.

Atherosclerotic cardiovascular disease (ASCVD) is the largest cause of morbidity and mortality worldwide. Lipid-lowering therapies are the current major cornerstone of ASCVD management. Statins, ezetimibe, fibrates, and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors effectively reduce plasma low-density lipoprotein cholesterol (LDL-C) level in most individuals at risk of atherosclerosis. Read More

View Article and Full-Text PDF

Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians.

Intern Med J 2021 May;51(5):769-779

School of Medicine, University of Western Australia, Perth, Western Australia, Australia.

Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease. New clinical practice recommendations are presented to assist practitioners in enhancing the care of all patients with FH. Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. Read More

View Article and Full-Text PDF