10,508 results match your criteria Hypercholesterolemia Familial


Comparative study on the performance of different classification algorithms, combined with pre- and post-processing techniques to handle imbalanced data, in the diagnosis of adult patients with familial hypercholesterolemia.

PLoS One 2022 24;17(6):e0269713. Epub 2022 Jun 24.

Centro de Estatística e Aplicações, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal.

Familial Hypercholesterolemia (FH) is an inherited disorder of cholesterol metabolism. Current criteria for FH diagnosis, like Simon Broome (SB) criteria, lead to high false positive rates. The aim of this work was to explore alternative classification procedures for FH diagnosis, based on different biological and biochemical indicators. Read More

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Endothelial Microparticles as Potential Biomarkers in the Assessment of Endothelial Dysfunction in Hypercholesterolemia.

Medicina (Kaunas) 2022 Jun 19;58(6). Epub 2022 Jun 19.

Department of Pharmacology, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, Kota Bharu 16150, Kelantan, Malaysia.

: Endothelial microparticles (EMP) particularly CD31/42/AV, CD144/AV and CD62e/AV have been reported as having increased in cardiovascular-related diseases, making them potential biomarkers for endothelial dysfunction. This study aimed to compare these EMPs in patients with hypercholesterolemia and healthy controls and to correlate their levels with endothelium-dependent vasodilation (EDV) assessed via pulse wave analysis (PWA); an established method of assessing endothelial function. : EMPs from 88 subjects (44 hypercholesterolemia patients and 44 controls) were quantified from whole blood using flow cytometry analysis. Read More

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Retinal Microvascular Changes in Familial Hypercholesterolemia: Analysis with Swept-Source Optical Coherence Tomography Angiography.

J Pers Med 2022 May 26;12(6). Epub 2022 May 26.

Cardiology Department, University Hospital, 21000 Dijon, France.

Familial hypercholesterolemia (FH) is a common but underdiagnosed genetic disorder affecting cholesterol metabolism, leading to atherosclerotic disease. The relationship between retinal microvascular changes and the presence of atheroma in patients with FH (FH group), and in comparison to volunteers without FH (CT group), needs further investigation. This cross-sectional study was conducted in a university hospital between October 1, 2020 and May 31, 2021. Read More

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Factors Associated with Colorectal Polyps in Middle-Aged and Elderly Populations.

Int J Environ Res Public Health 2022 Jun 20;19(12). Epub 2022 Jun 20.

Division of Hepatogastroenterology, Department of Internal Medicine, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, 123, Dapi Road, Niaosong District, Kaohsiung 833, Taiwan.

Colorectal polyps are the precursor lesions of most colorectal cancers. This study aimed to evaluate associations between bone mineral density (BMD), metabolic syndrome (MetS), and gastrointestinal diseases with colorectal polyps in middle-aged and elderly populations. A retrospective cross-sectional study was performed using data from the health examination database of a tertiary medical center in southern Taiwan in 2015. Read More

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Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Genes (Basel) 2022 Jun 1;13(6). Epub 2022 Jun 1.

Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.

The most common form of inherited lipid disorders is familial hypercholesterolemia (FH). It is characterized primarily by high concentrations of the clinical triad of low-density lipoprotein cholesterol, tendon xanthomas and premature CVD. The well-known genetic background are mutations in , and gene. Read More

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A variant in the fibronectin (FN1) gene, rs1250229-T, is associated with decreased risk of coronary artery disease in familial hypercholesterolaemia.

J Clin Lipidol 2022 May 20. Epub 2022 May 20.

School of Medicine, Faculty of Medicine and Health Sciences, The University of Western Australia, Perth, Australia (Drs Page, Ellis, Chan, Pang, Hooper, Bell, Burnett, and Watts); Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital, Perth, Australia (Drs Bell, Burnett, and Watts). Electronic address:

Background: Increased risk of coronary artery disease (CAD) in familial hypercholesterolaemia (FH) is modified by factors beyond defects in the low-density lipoprotein receptor pathway. The rs1250229-T single nucleotide polymorphism (SNP) in the FN1 gene is associated with CAD in genome-wide association studies and is in linkage disequilibrium with another SNP (rs1250259-T) in FN1 that is associated with decrease fibronectin secretion.

Objective: We investigated whether rs1250229-T was also associated with prevalent CAD in patients with genetically confirmed FH. Read More

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Real-World Insights Into Evolocumab Use in Patients With Hyperlipidemia: Canadian Analysis From the ZERBINI Study.

CJC Open 2022 Jun 12;4(6):558-567. Epub 2022 Mar 12.

Amgen Canada Inc., Mississauga, Ontario, Canada.

Background: The 2021 Canadian Cardiovascular Society guidelines recommend proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitor therapy in patients with atherosclerotic cardiovascular disease whose low-density lipoprotein cholesterol (LDL-C) concentration remains ≥ 1.8 mmol/L despite maximally tolerated statin therapy. This retrospective and prospective observational study characterizes Canadian patients treated with evolocumab and describes its effectiveness and safety. Read More

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Probiotic Use in Children and Adolescents with Overweight or Obesity: A Scoping Review.

Child Obes 2022 Jun 20. Epub 2022 Jun 20.

Heilbrunn Department of Population and Family Health, Columbia University Mailman School of Public Health, New York, New York, USA.

Probiotics have been proposed as a prevention or treatment for pediatric overweight and obesity. Conduct a scoping review on probiotic use in children and adolescents with overweight or obesity and those with weight-related conditions and to identify knowledge gaps and research priorities. Seven databases using keywords and medical subject heading terms for articles reporting probiotic use in children or adolescents with overweight or obesity published from database conception until initiation of the study. Read More

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A scoping review of interventions increasing screening and diagnosis of familial hypercholesterolemia.

Genet Med 2022 Jun 16. Epub 2022 Jun 16.

Department of Genetics, Cell Biology, and Development, College of Biological Sciences, University of Minnesota, Minneapolis, MN. Electronic address:

Purpose: Familial hypercholesterolemia (FH) is one of the most common genetic conditions, with a prevalence of approximately 1 in 250 individuals. If left untreated, FH greatly increases risk for cardiovascular disease and premature death. Currently, FH is largely underdiagnosed and interventions are needed to increase identification. Read More

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The promising novel therapies for familial hypercholesterolemia.

J Clin Lab Anal 2022 Jun 17:e24552. Epub 2022 Jun 17.

The Affiliated Ningbo First Hospital, School of Medicine of Ningbo University, Ningbo, China.

Background: The incidence of premature atherosclerotic cardiovascular disease in familial hypercholesterolemia (FH) is high. In recent years, novel therapeutic modalities have shown significant lipid-lowering ability. In this paper, we summarize the recent developments in novel therapies for FH via the treatment of different targets and discuss the characteristics of each targeted therapy. Read More

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[Lipoprotein apheresis in patients with familial hypercholesterolemia: a single center research].

Zhonghua Xin Xue Guan Bing Za Zhi 2022 Jun;50(6):585-590

Cardiometabolic Medicine Center, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.

We evaluated the safety and efficacy of lipoprotein apheresis (LA) in patients with familial hypercholesterolemia (FH) who can't reach low-density lipoprotein cholesterol(LDL-C) target goals with the maximal tolerated dose of lipid-lowering agents. This was a retrospective cross-sectional study. Between February 2015 and November 2019, patients with FH who were admitted in Fuwai hospital and treated with LA were consecutively enrolled. Read More

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Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.

Intern Med 2022 Jun 14. Epub 2022 Jun 14.

Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan.

We herein present a case series of hypercholesterolemia caused by a pathogenic mutation in the ATP-binding cassette sub-family G member 5 (ABCG5). Three unrelated infantile patients who were breastfed and had extremely elevated low-density lipoprotein (LDL) cholesterol levels were referred to our hospital. Their LDL cholesterol levels decreased significantly after weaning. Read More

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Evinacumab: a new option in the treatment of homozygous familial hypercholesterolemia.

Expert Opin Biol Ther 2022 Jun 22:1-8. Epub 2022 Jun 22.

Center for the Study of Dyslipidaemias, IRCCS MultiMedica, Sesto S. Giovanni, Milan, Italy.

Introduction: Familial hypercholesterolemia is a genetic disorder characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C) since birth and an exceedingly high risk of premature cardiovascular disease, especially in the homozygous form (HoFH). Despite the availability of effective cholesterol-lowering drugs, substantial LDL-C and cardiovascular risk reductions in these patients are still problematic, especially in those carrying mutations in the low-density lipoprotein receptor ( gene.

Areas Covered: Loss-of-function mutations in angiopoietin-like 3 ( encoding gene are associated with lower levels of LDL-C and reduced cardiovascular risk; the pharmacological inhibition of ANGPTL3 reduces LDL-C levels independently of LDLR. Read More

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Introducing genetic testing with case finding for familial hypercholesterolaemia in primary care: qualitative study of patient and health professional experience.

Br J Gen Pract 2022 Mar 24. Epub 2022 Mar 24.

Centre for Academic Primary Care, University of Nottingham, Nottingham.

Background: Familial hypercholesterolaemia (FH) is a common inherited condition causing elevated cholesterol, premature heart disease, and early death. Although FH can be effectively treated, over 80% of people with FH remain undetected.

Aim: To explore patient and health professional experiences of introducing genetic testing with case finding for FH in primary care. Read More

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Comparison of Equations for the Calculation of LDL-Cholesterol in Familial Hypercholesterolemia: Data from Iranian Registry.

Turk Kardiyol Dern Ars 2022 06;50(4):270-275

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

Objective: Low-density lipoprotein cholesterol is the mainstay of diagnosis, treatment, and follow-up of patients with familial hypercholesterolemia, the most prevalent autosomal domi- nant disorder among humans. Since the reference measurement method (ultracentrifugation) is time-consuming and expensive, many formulas emerged to calculate low-density lipopro- tein cholesterol levels and are commonly used in laboratories.

Methods: To compare the performance of 3 low-density lipoprotein cholesterol calcula- tion equations with a direct method (enzymatic photometric assay), the lipid profiles of 1148 patients of the registry of familial hypercholesterolemia in Iran were analyzed retrospec- tively, 270 of which had a possible or definite familial hypercholesterolemia diagnosis according to Dutch criteria. Read More

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Retinal Vascular Study Using OCTA in Subjects at High Genetic Risk of Developing Alzheimer's Disease and Cardiovascular Risk Factors.

J Clin Med 2022 Jun 6;11(11). Epub 2022 Jun 6.

Ramon Castroviejo Institute of Ophthalmologic Research, Group UCM 920105, Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Complutense University of Madrid, 28040 Madrid, Spain.

In 103 subjects with a high genetic risk of developing Alzheimer's disease (AD), family history (FH) of AD and ApoE ɛ4 characterization (ApoE ɛ4) were analyzed for changes in the retinal vascular network by OCTA (optical coherence tomography angiography), and AngioTool and Erlangen-Angio-Tool (EA-Tool) as imaging analysis software. Retinal vascularization was analyzed by measuring hypercholesterolemia (HCL) and high blood pressure (HBP). Angio-Tool showed a statistically significant higher percentage of area occupied by vessels in the FH+ ApoE ɛ4- group vs. Read More

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Healthcare worker-based opportunistic screening for familial hypercholesterolemia in a low-resource setting.

PLoS One 2022 9;17(6):e0269605. Epub 2022 Jun 9.

Department of Preventive Cardiology, Eternal Heart Care Centre & Research Institute, Jaipur, India.

Background & Objective: Heterozygous familial hypercholesterolemia (FHeH) is important risk factor for premature coronary artery disease (CAD). Strategies for its diagnosis and prevalence have not been well studied in India. We performed healthcare worker-based opportunistic screening to assess feasibility for determining its prevalence. Read More

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Effect of Omega-3 Fatty Acid Supplementation on the Postprandial Metabolism of Apolipoprotein(a) in Familial Hypercholesterolemia.

J Atheroscler Thromb 2022 Jun 8. Epub 2022 Jun 8.

Medical School, University of Western Australia.

Aim: Lipoprotein(a) (Lp(a)) is a low-density lipoprotein-like particle containing apolipoprotein(a) (apo(a)) that increases the risk of atherosclerotic cardiovascular disease (ASCVD) in familial hypercholesterolemia (FH). Postprandial redistribution of apo(a) protein from Lp(a) to triglyceride-rich lipoproteins (TRLs) may also increase the atherogenicity of TRL particles. Omega-3 fatty acid (ω3FA) supplementation improves postprandial TRL metabolism in FH subjects. Read More

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Familial hypercholesterolemia in an Iranian family due to a mutation in the APOE gene (first case report).

J Diabetes Metab Disord 2022 Jun 10;21(1):1201-1205. Epub 2022 Mar 10.

Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran.

Familial Hypercholesterolemia is an autosomal, dominant genetic disorder associated with premature cardiovascular disease (CVD). Mutations in the LDLR, APOB, and PCSK9 genes cause the FH phenotype, but in 20% of FH patients, mutations in other genes cause FH. In this regard, we investigated the genetic basis of an Autosomal Dominant Hypercholesterolemia (ADH) phenotype in an Iranian family via next-generation exome sequencing with a panel of hyperlipidemia. Read More

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Cardiovascular risk factors and markers of myocardial injury and inflammation in people living with HIV in Nairobi, Kenya: a pilot cross-sectional study.

BMJ Open 2022 Jun 6;12(6):e062352. Epub 2022 Jun 6.

Department of Non-communicable Disease Epidemiology, London School of Hygiene & Tropical Medicine, London, UK

Objectives: To determine the prevalence of cardiovascular disease (CVD) risk factors and explore associations with high-sensitivity cardiac troponin I (hscTnI) and high-sensitivity C-reactive protein (hsCRP) in people living with HIV (PLHIV) in Kenya.

Design: Pilot cross-sectional study.

Setting: Data were collected from community HIV clinics across two sites in Nairobi, Kenya, from July 2019 to May 2020. Read More

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Inclisiran: Small Interfering Ribonucleic Acid Injectable for the Treatment of Hyperlipidemia.

Cardiol Rev 2022 Jul-Aug 01;30(4):214-219. Epub 2022 Jun 2.

Department of Pharmacy Practice and Administrative Sciences, University of New Mexico College of Pharmacy, Albuquerque, NM.

Elevated plasma lipid levels, especially low-density lipoprotein, are correlated with atherosclerotic cardiovascular disease (ASCVD) and increased risk of ischemic heart disease and stroke. Statins are first-line agents for reducing low-density lipoprotein cholesterol (LDL-C) and the risk of major cardiovascular events, but patients with a genetic susceptibility or established ASCVD oftentimes remain subtherapeutic on statin therapy alone. Biotechnological advancements in medication therapy have led to the development of inclisiran, a recently approved twice-yearly injectable agent to help patients with heterozygous familial hypercholesterolemia and clinical ASCVD on a maximally tolerated statin to reach LDL-C targets. Read More

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A mathematical model of in vitro hepatocellular cholesterol and lipoprotein metabolism for hyperlipidemia therapy.

PLoS One 2022 3;17(6):e0264903. Epub 2022 Jun 3.

Institute for Regenerative Medicine, Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.

Cardiovascular diseases associated with high cholesterol (hypercholesterolemia) and low-density lipoproteins (LDL) levels are significant contributors to total mortality in developing and developed countries. Mathematical modeling of LDL metabolism is an important step in the development of drugs for hypercholesterolemia. The aim of this work was to develop and to analyze an integrated mathematical model of cholesterol metabolism in liver cells and its interaction with two types of drugs, statins and PCSK9 inhibitors. Read More

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Idol Depletion Protects against Spontaneous Atherosclerosis in a Hamster Model of Familial Hypercholesterolemia.

Oxid Med Cell Longev 2022 24;2022:1889632. Epub 2022 May 24.

Laboratory of Lipid Metabolism, Institute of Basic Medicine; Department of Biochemistry and Molecular Biology, College of Basic Medicine, Key Laboratory of Medical Biotechnology of Hebei Province, Cardiovascular Medical Science Center, Hebei Medical University, Shijiazhuang, Hebei 050017, China.

Inducible degrader of low-density lipoprotein (LDL) receptor (Idol) is an E3 ubiquitin ligase coded by , the target gene of liver X receptor (LXR), which primarily mediates the ubiquitination and lysosomal degradation of low-density lipoprotein receptor (LDLR). Previous studies from independent groups have shown that plasma cholesterol regulation by the LXR-Idol-LDLR axis is tissue- and species-specific, indicating that the precise molecular mechanism by which Idol modulates lipid metabolism has not been completely understood and needs to be further validated in other species. Hamster, a small rodent animal model expressing endogenous cholesterol ester transfer protein (CETP), possesses many metabolic characteristics that are different from mouse but similar to human. Read More

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Dyslipidemia treatment strategies in primary and secondary prevention. Dyslipemia Registry of the Spanish Arteriosclerosis Society.

Clin Investig Arterioscler 2022 May 30. Epub 2022 May 30.

Hospital Universitario Miguel Servet, IIS Aragón, CIBERCV, Zaragoza, España; Universidad de Zaragoza, Zaragoza, España. Electronic address:

Introduction: Clinical studies show that patients with high cardiovascular risk are still far from reaching the therapeutic objectives, especially of the levels of LDL cholesterol. If the management of these patients in specialized units differs from other scenarios is known.

Patients And Methods: 61 certified Lipid Units were selected in the Registry of Dyslipemias of the Spanish Arteriosclerosis Society for the collection of study data. Read More

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Hypercholesterolemia reduces the expression and function of hepatic drug metabolizing enzymes and transporters in rats.

Toxicol Lett 2022 Jul 30;364:1-11. Epub 2022 May 30.

Changning Maternity and Infant Health Hospital and School of Life Sciences, Shanghai Key Laboratory of Regulatory Biology, East China Normal University, Shanghai, China. Electronic address:

Hypercholesterolemia, one of the most common lipid metabolic diseases, may cause severe complications and even death. However, the effect of hypercholesterolemia on drug-metabolizing enzymes and transporters remains unclear. In this report, we established a rat model of diet-induced hypercholesterolemia. Read More

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Comparing self-reported and measured hypertension and hypercholesterolaemia at standard and more stringent diagnostic thresholds: the cross-sectional 2010-2015 Busselton Healthy Ageing study.

Clin Hypertens 2022 Jun 1;28(1):16. Epub 2022 Jun 1.

Medical School, University of Western Australia, Crawley, WA, Australia.

Background: Population health behaviour and risk factor surveys most often rely on self-report but there is a lack of studies assessing the validity of self-report using Australian data. This study investigates the sensitivity, specificity and agreement of self-reported hypertension and hypercholesterolaemia with objective measures at standard and more stringent diagnostic thresholds; and factors associated with sensitivity and specificity of self-report at different thresholds.

Methods: This study was a secondary analysis of a representative community-based cross-sectional sample of 5,092 adults, aged 45-69 years, residing in Busselton, Western Australia, surveyed in 2010-2015. Read More

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Genetic Variant rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Pharmaceutics 2022 Apr 27;14(5). Epub 2022 Apr 27.

Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000, Brazil.

Statins are the first-line treatment for familial hypercholesterolemia (FH), but response is highly variable due to genetic and nongenetic factors. Here, we explored the association between response and genetic variability in 114 Brazilian adult FH patients. Specifically, a panel of 84 genes was analyzed by exon-targeted gene sequencing (ETGS), and the functional impact of variants in pharmacokinetic (PK) genes was assessed using an array of functionality prediction methods. Read More

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