DIAgnosis and Management Of familial hypercholesterolemia in a Nationwide Design (DIAMOND-FH): Prevalence in Switzerland, clinical characteristics and the diagnostic value of clinical scores.

Abstract:

BACKGROUND AND AIMS:In Switzerland, the prevalence of familial hypercholesterolemia (FH) due to pathogenic apolipoprotein B-100 gene (APOB) variants was known, but not the prevalence of FH due to pathogenic low-density lipoprotein-receptor gene (LDLR) variants. Phenotypic differences (LDLR versus APOB) might affect the diagnostic value of the Dutch Lipid Clinic Network (DLCN) score and Simon Broome Diagnostic Criteria (SBDC). METHODS:A total of 2734 Swiss subjects were investigated, 2221 unselected subjects from three representative population surveys for estimation of the prevalence (LDLR variants), and 513 subjects from the DIAgnosis and Management Of familial hypercholesterolemia in a Nationwide Design (DIAMOND-FH) study for comparisons of phenotypic characteristics (LDLRversusAPOB variants), diagnostic values of clinical scores, and cardiovascular outcome. RESULTS:In 7 of 2221 individuals, FH (LDLR) was diagnosed (prevalence of FH due to LDLR variants: 1/317, prevalence of FH due to both LDLR and APOB variants: 1/125 to 1/135). In FH (APOB) patients under 35 years of age, mean total cholesterol (TC) was <8.5 mmoL/L but increased above 35. In FH (LDLR), TC was >8.5 mmoL/L in all age groups. This difference was crucial for the diagnosis of FH and resulted in a significantly lower sensitivity of clinical scores in FH (APOB) (DLCN: 13.8%, p < 0.0001; SBDC: 22.5%, p = 0.005). Thus, both scores were not useful for the definite diagnosis of FH due to APOB variants. Regarding the cardiovascular outcome, no differences (LDLR versus APOB) were found above 60 years. In countries with high percentages of FH due to APOB variants, cascade screening and molecular testing appear to be much more cost-effective.

journal_name

Atherosclerosis

journal_title

Atherosclerosis

authors

Miserez AR,Martin FJ,Spirk D

doi

10.1016/j.atherosclerosis.2018.08.009

subject

Has Abstract

pub_date

2018-10-01 00:00:00

pages

282-288

eissn

0021-9150

issn

1879-1484

pii

S0021-9150(18)31258-9

journal_volume

277

pub_type

杂志文章
  • Markers of endothelial dysfunction and low-grade inflammation are associated in the offspring of type 2 diabetic subjects.

    abstract::The offspring of type 2 diabetic patients are at elevated risk for type 2 diabetes and cardiovascular disease. The aim of our study was to characterize the role of various biomarkers of endothelial activation in a cohort of offspring of type 2 diabetic subjects and to assess the association of adhesion molecules with ...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2007.04.021

    authors: Ruotsalainen E,Vauhkonen I,Salmenniemi U,Pihlajamäki J,Punnonen K,Kainulainen S,Jalkanen S,Salmi M,Laakso M

    更新日期:2008-03-01 00:00:00

  • Ghrelin inhibits angiotensin II-induced migration of human aortic endothelial cells.

    abstract::Ghrelin, the endogenous ligand for the GH secretagogue receptor, is produced by the oxyntic cells of the stomach and is involved in the regulation of energy balance. However, an increasing number of direct ghrelin cardiovascular effects, and, among them, high ghrelin binding in atherosclerotic coronary arteries, are b...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2006.07.021

    authors: Rossi F,Bertone C,Petricca S,Santiemma V

    更新日期:2007-06-01 00:00:00

  • The HMG-CoA reductase inhibitor rosuvastatin inhibits plasminogen activator inhibitor-1 expression and secretion in human adipocytes.

    abstract::Human preadipocytes and adipocytes are known to produce the proatherogenic factor PAI-1 and proinflammatory cytokines, and obesity was found to be state of increased adipose production of these factors. In the present study, we investigated the effect of rosuvastatin on the regulation of PAI-1 gene expression in human...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2007.06.005

    authors: Laumen H,Skurk T,Hauner H

    更新日期:2008-02-01 00:00:00

  • Impact of retrograde shear rate on brachial and superficial femoral artery flow-mediated dilation in older subjects.

    abstract:UNLABELLED:An inverse, dose-dependent relationship between retrograde shear rate and brachial artery endothelial function exists in young subjects. This relationship has not been investigated in older adults, who have been related to lower endothelial function, higher resting retrograde shear rate and higher risk of ca...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2015.04.017

    authors: Schreuder TH,Green DJ,Hopman MT,Thijssen DH

    更新日期:2015-07-01 00:00:00

  • Lipoprotein lipase gene polymorphism rs1059611 functionally influences serum lipid concentrations.

    abstract:OBJECTIVE:Dozens of single nucleotide polymorphisms (SNPs) in the lipoprotein lipase (LPL) gene have been reported to be associated with lipid concentrations. The aim of this study was to validate the association between rs1059611 in the LPL gene and serum lipid concentrations in the Chinese Han population and explore ...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2013.05.005

    authors: Mo X,Liu X,Wang L,Li H,Lu X,Huang J,Chen J,Cao J,Li J,Chen S,Tang Y,Peng X,Gu D

    更新日期:2013-08-01 00:00:00

  • Impact of oxidized low density lipoprotein on vascular cells.

    abstract::Oxidized LDL (OxLDL) is a proatherogenic lipoprotein, accumulating in the vascular wall and contributing to the pathogenesis of vascular dysfunction early in the development of atherosclerosis. Enhanced serum levels of OxLDL, as well as antibodies against its epitopes, are predictive for endothelial dysfunction and co...

    journal_title:Atherosclerosis

    pub_type: 杂志文章,评审

    doi:10.1016/j.atherosclerosis.2005.10.005

    authors: Galle J,Hansen-Hagge T,Wanner C,Seibold S

    更新日期:2006-04-01 00:00:00

  • The effects of low density lipoprotein and high density lipoprotein on phosphoinositide hydrolysis in bovine aortic endothelial cells.

    abstract::Low density lipoprotein (LDL) and high density lipoprotein (HDL3) were tested for their ability to induce inositol phospholipid turnover and inositol phosphate production in bovine aortic endothelial cells (BAEC). The production of inositol phosphates following hydrolysis of the phosphoinositides was demonstrated by t...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/0021-9150(92)90004-z

    authors: Myers DE,Fidge NH,Stanton H,Larkins RG

    更新日期:1992-01-01 00:00:00

  • Associations between serum lipoprotein(a) levels and the severity of coronary and aortic atherosclerosis.

    abstract::To elucidate the associations between Lp(a) levels and coronary and aortic atherosclerosis, we performed aortic MRI in 143 patients undergoing coronary angiography. Severity of aortic atherosclerosis was represented as plaque scores. Of the 143 patients, 104 had coronary artery disease (CAD). Thoracic and abdominal ao...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2012.02.008

    authors: Momiyama Y,Ohmori R,Fayad ZA,Tanaka N,Kato R,Taniguchi H,Nagata M,Ohsuzu F

    更新日期:2012-05-01 00:00:00

  • Fenofibrate induces plaque regression in hypercholesterolemic atherosclerotic rabbits: in vivo demonstration by high-resolution MRI.

    abstract:INTRODUCTION:Fenofibrate has shown to reduce major cardiovascular events and slow angiographic progression of coronary atherosclerosis. The postulated mechanism of action is via the activation of peroxisomal proliferator-activated receptor-alpha (PPAR-alpha), a nuclear transcription factor that controls a variety of ce...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2006.02.036

    authors: Corti R,Osende J,Hutter R,Viles-Gonzalez JF,Zafar U,Valdivieso C,Mizsei G,Fallon JT,Fuster V,Badimon JJ

    更新日期:2007-01-01 00:00:00

  • Serum profile of non-esterified fatty acids (NEFA) in patients with hyperlipoproteinemia under xantinol--nicotinate (XN) medication.

    abstract::The effect of 50 mg/kg body weight Xantinol-nicotinate (XN) on serum lipids and on non-esterified fatty acids (NEFA) was tested in 94 out-patients with hyperlipoproteinemia Types IIa, IIb, IV and V. The lipids were measured before treatment, during a 3-week period of drug administration and 10 days after rejection. In...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/0021-9150(80)90095-7

    authors: Haacke H,Parwaresch MR,Mäder C

    更新日期:1980-09-01 00:00:00

  • The effect of chlorthalidone on serum lipids and lipoproteins.

    abstract::The effect of chlorthalidone treatment on serum lipids and lipoproteins was investigated in 21 hypertensive patients. Chlorthalidone caused an increase in total serum and low density lipoprotein (LDL) cholesterol, but not in high density lipoprotein (HDL) cholesterol. Serum and lipoprotein triglycerides also increased...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/0021-9150(80)90204-x

    authors: Rosenthal T,Holtzman E,Segal P

    更新日期:1980-05-01 00:00:00

  • Impact of fibrate therapy on plasma plasminogen activator inhibitor-1: a systematic review and meta-analysis of randomized controlled trials.

    abstract:OBJECTIVE:The aim of this systematic review was to perform a meta-analysis of randomized controlled trials (RCTs) examining the efficacy of fibrate therapy in reducing plasma concentration or activity of plasminogen activator inhibitor 1 (PAI-1). METHODS:Scopus and MEDLINE databases were searched (up to October 15, 20...

    journal_title:Atherosclerosis

    pub_type: 杂志文章,meta分析,评审

    doi:10.1016/j.atherosclerosis.2015.03.016

    authors: Sahebkar A,Simental-Mendía LE,Watts GF,Golledge J

    更新日期:2015-05-01 00:00:00

  • Identification of a blood-based 12-gene signature that predicts the severity of coronary artery stenosis: An integrative approach based on gene network construction, Support Vector Machine algorithm, and multi-cohort validation.

    abstract:BACKGROUND AND AIMS:We aimed to identify a blood-based gene expression score (GES) to predict the severity of coronary artery stenosis in patients with known or suspected coronary artery disease (CAD) by integrative use of gene network construction, Support Vector Machine (SVM) algorithm, and multi-cohort validation. ...

    journal_title:Atherosclerosis

    pub_type: 杂志文章,多中心研究

    doi:10.1016/j.atherosclerosis.2019.10.001

    authors: Wang XB,Cui NH,Liu X,Ming L

    更新日期:2019-12-01 00:00:00

  • Molecular role of Cx37 in advanced atherosclerosis: a micro-array study.

    abstract::Recently, we showed that connexin37 (Cx37) protects against early atherosclerotic lesion development by regulating monocyte adhesion. The expression of this gap junction protein is altered in mouse and human atherosclerotic lesions; it is increased in macrophages newly recruited to the lesions and disappears from the ...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2009.02.020

    authors: Derouette JP,Wong C,Burnier L,Morel S,Sutter E,Galan K,Brisset AC,Roth I,Chadjichristos CE,Kwak BR

    更新日期:2009-09-01 00:00:00

  • Effect of pravastatin, a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor, on hepatic cholesterol 7 alpha-hydroxylase, acyl-coenzyme A: cholesterol acyltransferase, and bile lipid secretion in the hamster with intact enterohepatic circulation.

    abstract::The effects of administration of pravastatin, a 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitor, on hepatic cholesterol 7 alpha-hydroxylase and acyl-coenzyme A: cholesterol acyltransferase (ACAT) activities and bile lipid secretion were investigated in Syrian golden hamsters. Continuous administrat...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/0021-9150(94)90092-2

    authors: Hayashi K,Noshiro M,Kurushima H,Kuga Y,Nomura S,Ohkura Y,Ohtani H,Kurokawa J,Tanaka K,Yasunobu Y

    更新日期:1994-12-01 00:00:00

  • Evaluation of sCD163 and sTWEAK in patients with stable peripheral arterial disease and association with disease severity as well as long-term mortality.

    abstract:BACKGROUND AND AIMS:The TNF-superfamily member sTWEAK and its scavenger receptor sCD163 are potentially involved in pathophysiological processes of atherosclerosis. In patients with peripheral arterial disease, previous research has shown that sTWEAK and the sCD163/sTWEAK ratio were independently associated with long t...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2020.11.026

    authors: Mrak D,Zierfuss B,Höbaus C,Herz CT,Pesau G,Schernthaner GH

    更新日期:2021-01-01 00:00:00

  • Scoring of coronary artery calcium scans: history, assumptions, current limitations, and future directions.

    abstract::Coronary artery calcium (CAC) scanning is a reliable, noninvasive technique for estimating overall coronary plaque burden and for identifying risk for future cardiac events. Arthur Agatston and Warren Janowitz published the first technique for scoring CAC scans in 1990. Given the lack of available data correlating CAC...

    journal_title:Atherosclerosis

    pub_type: 杂志文章,评审

    doi:10.1016/j.atherosclerosis.2014.12.040

    authors: Alluri K,Joshi PH,Henry TS,Blumenthal RS,Nasir K,Blaha MJ

    更新日期:2015-03-01 00:00:00

  • Association of TNF-alpha serum levels and TNFA promoter polymorphisms with risk of myocardial infarction.

    abstract::Elevated levels of tumor necrosis factor-alpha (TNF-alpha), and presence of polymorphisms of the TNFA gene have been implicated in cardiovascular disease pathogenesis. We explored the relationship between polymorphisms in the TNFA gene (-1031C/T, -863C/A -857T/C, -308G/A, -238G/A), protein levels of TNF-alpha and thei...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2005.09.022

    authors: Bennet AM,van Maarle MC,Hallqvist J,Morgenstern R,Frostegård J,Wiman B,Prince JA,de Faire U

    更新日期:2006-08-01 00:00:00

  • Contribution of apolipoprotein(a) size, pentanucleotide TTTTA repeat and C/T(+93) polymorphisms of the apo(a) gene to regulation of lipoprotein(a) plasma levels in a population of young European Caucasians.

    abstract::Several studies indicate that the inter-individual variation in plasma concentrations of lipoprotein(a) (Lp(a)) is mainly under genetic control. To define the effect of three DNA polymorphisms on apolipoprotein(a) (apo(a)) expression, we have determined plasma Lp(a) concentrations, apo(a) isoform size, KpnI allele siz...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/s0021-9150(99)00137-9

    authors: Valenti K,Aveynier E,Leauté S,Laporte F,Hadjian AJ

    更新日期:1999-11-01 00:00:00

  • Race differences in the response of postheparin plasma lipoprotein lipase and hepatic lipase activities to endurance exercise training in men: results from the HERITAGE Family Study.

    abstract::Endurance exercise training is known to produce favorable changes in the metabolic profile including reduced plasma triglyceride (TG) and increased high-density lipoprotein (HDL) cholesterol concentrations. These metabolic improvements are likely to contribute to the reduced coronary heart disease (CHD) risk often obs...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/s0021-9150(01)00515-9

    authors: Bergeron J,Couillard C,Després JP,Gagnon J,Leon AS,Rao DC,Skinner JS,Wilmore JH,Bouchard C

    更新日期:2001-12-01 00:00:00

  • Human triglyceride-rich lipoprotein apo E kinetics and its relationship to LDL apo B-100 metabolism.

    abstract::Apolipoprotein (apo) E is a multifunctional protein that can act as a ligand for lipoprotein receptors. The receptor-mediated clearance of the triglyceride-rich lipoproteins (TRL) chylomicrons and VLDL from plasma is, in part, dependent on apo E. Enrichment of VLDL with apo E is thought to enhance receptor-mediated cl...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/s0021-9150(00)00589-x

    authors: Millar JS,Lichtenstein AH,Ordovas JM,Dolnikowski GG,Schaefer EJ

    更新日期:2001-04-01 00:00:00

  • Association of descending thoracic aortic plaque with brain atrophy and white matter hyperintensities: The Framingham Heart Study.

    abstract:BACKGROUND AND AIMS:Aortic atherosclerosis is an aggregate marker of vascular risk factor exposure and has been associated with intracranial atherosclerosis and stroke. We hypothesized that atherosclerosis of the descending aorta (DAo) could be a risk marker for brain aging and injury. METHODS:We evaluated 1527 partic...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2017.06.919

    authors: Aparicio HJ,Petrea RE,Massaro JM,Manning WJ,Oyama-Manabe N,Beiser AS,Kase CS,D'Agostino RB,Wolf PA,Vasan RS,DeCarli C,O'Donnell CJ,Seshadri S

    更新日期:2017-10-01 00:00:00

  • Evidence for an inverse relation between plasma triglyceride and aortic cholesterol in the coconut oil/cholesterol-fed rabbit.

    abstract::Rabbits fed a commercial chow diet containing 0.5% cholesterol and 14% coconut oil developed more severe hyperlipidemia and atherosclerosis than rabbits fed the same diet containing olive oil in place of coconut oil. Average plasma cholesterol was twice as high in the coconut oil/cholesterol-fed rabbits than in olive ...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/0021-9150(88)90142-6

    authors: Van Heek M,Zilversmit DB

    更新日期:1988-06-01 00:00:00

  • Inhibition of pericellular plasminogen activation by apolipoprotein(a): Roles of urokinase plasminogen activator receptor and integrins αMβ2 and αVβ3.

    abstract:BACKGROUND AND AIMS:Lipoprotein(a) (Lp(a)) is a causal risk factor for cardiovascular disorders including coronary heart disease and calcific aortic valve stenosis. Apolipoprotein(a) (apo(a)), the unique glycoprotein component of Lp(a), contains sequences homologous to plasminogen. Plasminogen activation is markedly ac...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2018.05.029

    authors: Romagnuolo R,Scipione CA,Bazzi ZA,Boffa MB,Koschinsky ML

    更新日期:2018-08-01 00:00:00

  • Periodontal bacteria in human carotid atherothrombosis as a potential trigger for neutrophil activation.

    abstract:OBJECTIVE:Epidemiological, biological and clinical links between periodontal and cardiovascular diseases are now well established. Several human studies have detected bacterial DNA corresponding to periodontal pathogens in cardiovascular samples. Intraplaque hemorrhage has been associated with a higher risk of atherosc...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2014.07.034

    authors: Rangé H,Labreuche J,Louedec L,Rondeau P,Planesse C,Sebbag U,Bourdon E,Michel JB,Bouchard P,Meilhac O

    更新日期:2014-10-01 00:00:00

  • Differential effect of soluble intercellular adhesion molecule-1 on the progression of atherosclerosis as compared to arterial thrombosis: a prospective analysis of the Women's Health Study.

    abstract:BACKGROUND:Soluble intercellular adhesion molecule-1 (sICAM-1) is a transmembrane protein involved in the migration and adhesion of leukocytes to the vascular endothelium. While some studies indicate that elevated baseline sICAM-1 levels predict cardiovascular events, most of these studies were done in men; moreover, u...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2007.04.051

    authors: Albert MA,Glynn RJ,Buring JE,Ridker PM

    更新日期:2008-03-01 00:00:00

  • Apolipoprotein A1 genotype affects the change in high density lipoprotein cholesterol subfractions with exercise training.

    abstract::High density lipoprotein cholesterol (HDL-C) is a primary risk factor for cardiovascular disease. Apolipoprotein A-1 (apoA1) is the major HDL-associated apolipoprotein. The -75G/A single nucleotide polymorphism (SNP) in the apolipoprotein A1 gene (APOA1) promoter has been reported to be associated with HDL-C concentra...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2005.05.029

    authors: Ruaño G,Seip RL,Windemuth A,Zöllner S,Tsongalis GJ,Ordovas J,Otvos J,Bilbie C,Miles M,Zoeller R,Visich P,Gordon P,Angelopoulos TJ,Pescatello L,Moyna N,Thompson PD

    更新日期:2006-03-01 00:00:00

  • Involvement of potassium channels in the protective effect of 17beta-estradiol on hypercholesterolemic rabbit carotid artery.

    abstract::The involvement of endothelium-derived hyperpolarizing factor (EDHF) in the protective effect of 17beta-estradiol was investigated on the phenylephrine-precontracted carotid artery from cholesterol fed rabbits. Animals were fed for 8 weeks as follows: control group, standard chow; (control+estradiol) group, standard c...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/s0021-9150(99)00450-5

    authors: Ghanam K,Ea-Kim L,Javellaud J,Oudart N

    更新日期:2000-09-01 00:00:00

  • LXR agonism improves TNF-α-induced endothelial dysfunction in the absence of its cholesterol-modulating effects.

    abstract::Stimulation of the liver X receptor (LXR) is associated with anti-inflammatory and vascular-protective effects under hyperlipemic conditions. We examined whether LXR stimulation influences TNF-α-induced endothelial dysfunction under normolipemic conditions. Endothelium-dependent vasorelaxation of aortic rings was dete...

    journal_title:Atherosclerosis

    pub_type: 杂志文章

    doi:10.1016/j.atherosclerosis.2013.10.001

    authors: Spillmann F,Van Linthout S,Miteva K,Lorenz M,Stangl V,Schultheiss HP,Tschöpe C

    更新日期:2014-01-01 00:00:00

  • Soluble endoglin, hypercholesterolemia and endothelial dysfunction.

    abstract::A soluble form of endoglin (sEng) is known to be an extracellular domain of the full-length membrane endoglin, which is elevated during various pathological conditions related to vascular endothelium. In the current review, we tried to summarize a possible role of soluble endoglin in cardiovascular pathologies, focusi...

    journal_title:Atherosclerosis

    pub_type: 杂志文章,评审

    doi:10.1016/j.atherosclerosis.2015.10.003

    authors: Rathouska J,Jezkova K,Nemeckova I,Nachtigal P

    更新日期:2015-12-01 00:00:00