0000000000715392

AUTHOR

Alberico Luigi Catapano

0000-0002-7593-2094

showing 9 related works from this author

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

2017

Abstract Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major…

0301 basic medicineApolipoprotein ECandidate geneSettore MED/09 - Medicina InternaDatabases FactualApolipoprotein BDNA Mutational AnalysisFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosityPCSK90302 clinical medicineRisk FactorsReceptorsGeneticsHomozygoteAutosomal dominant traitPathogenic variantsGeneral MedicinePrognosisAPOB; Familial hypercholesterolemia; LDLR; PCSK9; Pathogenic variantsCholesterolPhenotypeItalyAutosomal Recessive HypercholesterolemiaApolipoprotein B-100lipids (amino acids peptides and proteins)Proprotein Convertase 9APOBCardiology and Cardiovascular MedicinePreliminary DataGenetic MarkersFamilial hypercholesterolemiaLDLRPCSK9APOBPathogenic variantsHeterozygoteFamilial hypercholesterolemiaBiologyPathogenic variantLDLHyperlipoproteinemia Type II03 medical and health sciencesDatabasesmedicineInternal MedicineHumansAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Internal Medicine; Cardiology and Cardiovascular MedicineGenetic Predisposition to DiseaseFactualPCSK9Settore MED/13 - ENDOCRINOLOGIAAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Cardiology and Cardiovascular Medicine; Internal Medicinemedicine.diseaseAtherosclerosis030104 developmental biologyLDLRReceptors LDLMutationbiology.proteinAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Apolipoprotein B-100; Atherosclerosis; Cholesterol; DNA Mutational Analysis; Databases Factual; Genetic Markers; Genetic Predisposition to Disease; Heterozygote; Homozygote; Humans; Hyperlipoproteinemia Type II; Italy; Phenotype; Preliminary Data; Prognosis; Proprotein Convertase 9; Receptors LDL; Risk Factors; Mutation; Internal Medicine; Cardiology and Cardiovascular Medicine
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ANMCO/ISS/AMD/ANCE/ARCA/FADOI/GICR-IACPR/SICI-GISE/SIBioC/SIC/SICOA/SID/SIF/SIMEU/SIMG/SIMI/SISA Joint Consensus Document on cholesterol and cardiova…

2017

Atherosclerotic cardiovascular disease still represents the leading cause of death in western countries. A wealth of scientific evidence demonstrates that increased blood cholesterol levels have a major impact on the outbreak and progression of atherosclerotic plaques. Moreover, several cholesterol-lowering pharmacological agents, including statins and ezetimibe, have proven effective in improving clinical outcomes. This document is focused on the clinical management of hypercholesterolemia and has been conceived by 16 Italian medical associations with the support of the Italian National Institute of Health. The authors have considered with particular attention the role of hypercholesterole…

medicine.medical_specialtySettore MED/09 - Medicina InternaPCSK9 inhibitorMEDLINE030204 cardiovascular system & hematologyNOatherosclerosis; diagnostic and therapeutic pathways; hypercholesterolaemia; PCSK9 inhibitors; statins; sustainable health careDiagnostic and therapeutic pathways03 medical and health scienceschemistry.chemical_compound0302 clinical medicineEzetimibeInternal medicineDiabetes mellitusmedicine030212 general & internal medicineIntensive care medicineRisk managementCause of deathHypercholesterolaemiabusiness.industryAtherosclerotic cardiovascular diseaseCholesterolSustainable health careStatinsDiagnostic and therapeutic pathwayStatinHigh Cholesterol LevelsArticlesmedicine.diseaseAtherosclerosischemistryPCSK9 inhibitorsAtherosclerosiCardiologylipids (amino acids peptides and proteins)Atherosclerosis; Diagnostic and therapeutic pathways; Hypercholesterolaemia; PCSK9 inhibitors; Statins; Sustainable health care; Cardiology and Cardiovascular MedicineCardiology and Cardiovascular Medicinebusinessmedicine.drugEuropean Heart Journal Supplements : Journal of the European Society of Cardiology
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Secondary Stroke Prevention in Polish Adults: Results from the LIPIDOGRAM2015 Study

2021

Background: The purpose of the study was to evaluate secondary stroke prevention in Poland and its association with sociodemographic factors, place of residence, and concomitant cardiovascular risk factors. Material and methods: From all patients in LIPIDOGRAM2015 Study (n = 13,724), 268 subjects had a history of ischaemic stroke and were included. Results: 165 subjects (61.6%) used at least one preventive medication. Oral antiplatelet and anticoagulation agents were used by 116 (43.3%) and 70 (26.1%) patients, respectively. Only 157 (58.6%) participants used lipid-lowering drugs, and 205 (76.5%) were treated with antihypertensive drugs. Coronary heart disease (CHD) and dyslipidaemia were a…

Oral anticoagulant drugsmedicine.medical_specialtyRMArticleLifestyle modificationOral antiplatelet drugsInternal medicineIschaemic strokemedicineMyocardial infarctioncardiovascular diseasesSecondary stroke preventionStrokePrimary health careoral anticoagulant drugssecondary stroke preventionbusiness.industryRAtrial fibrillationoral antiplatelet drugsGeneral Medicinemedicine.diseaseR1Coronary heart diseaseprimary health careStroke preventionConcomitantMedicinebusiness
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The Differences in the Prevalence of Cardiovascular Disease, Its Risk Factors, and Achievement of Therapeutic Goals among Urban and Rural Primary Car…

2021

A nationwide cross-sectional study, LIPIDOGRAM2015, was carried out in Poland in the years 2015 and 2016. A total of 438 primary care physicians enrolled 13,724 adult patients that sought medical care in primary health care practices. The prevalence of hypertension, diabetes mellitus, dyslipidaemia, and CVD were similar in urban and rural areas (49.5 vs. 49.4%; 13.7 vs. 13.1%; 84.2 vs. 85.2%; 14.4 vs. 14.2%, respectively). The prevalence of obesity (32.3 vs. 37.5%, p p p p = 0.04) and non-HDL-C (147 vs. 148 mg/dL, p = 0.03) were slightly higher in rural populations. Altogether, 14.3% of patients with CVD from urban areas and 11.3% from rural areas reached LDL p = 0.04). There were no import…

RMWaistDiseasePrimary careArticleDiabetes mellitusmedicinerisk factorsUrbanRuralAbdominal obesityPrimary health carebusiness.industryRprimary health care; cardiovascular diseases; risk factors; urban; rural; Poland1103 Clinical SciencesGeneral Medicinemedicine.diseaseObesitycardiovascular diseasesprimary health careCardiovascular diseasesBlood pressureRisk factorsMedicineruralPolandRural areamedicine.symptombusinessurbanDemography
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Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart diseas…

2013

AIMS: The first aim was to critically evaluate the extent to which familial hypercholesterolaemia (FH) is underdiagnosed and undertreated. The second aim was to provide guidance for screening and treatment of FH, in order to prevent coronary heart disease (CHD).METHODS AND RESULTS: Of the theoretical estimated prevalence of 1/500 for heterozygous FH, <1% are diagnosed in most countries. Recently, direct screening in a Northern European general population diagnosed approximately 1/200 with heterozygous FH. All reported studies document failure to achieve recommended LDL cholesterol targets in a large proportion of individuals with FH, and up to 13-fold increased risk of CHD. Based on prev…

medicine.medical_specialtyStatinAtherosclerosis; Cardiovascular disease; Cholesterol; Coronary heart disease; Low-density lipoproteinSettore MED/09 - Medicina Internamedicine.drug_classPopulationCHILDRENFamilial hypercholesterolemiaBile acid bindingCOST-EFFECTIVENESS ANALYSIS030204 cardiovascular system & hematologyLDL-CHOLESTEROLDIAGNOSIS03 medical and health scienceschemistry.chemical_compound0302 clinical medicineEzetimibeInternal medicineDiabetes mellitusmedicineMANAGEMENT030212 general & internal medicineeducationHealth aging / healthy living Cardiovascular diseases [IGMD 5]Alirocumabeducation.field_of_studyCYTOKINE PATTERN CHANGEbusiness.industryLow-density lipoproteinmedicine.diseaseAtherosclerosisCardiovascular diseaseLomitapideDENSITY-LIPOPROTEIN APHERESIS3. Good healthASSOCIATION EXPERT PANELCoronary heart diseaseEndocrinologyCholesterolchemistryCARDIOVASCULAR-DISEASEAtherosclerosiCardiology and Cardiovascular MedicinebusinessSTATIN TREATMENTmedicine.drugEuropean Heart Journal
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Predictive value for cardiovascular events of common carotid intima media thickness and its rate of change in individuals at high cardiovascular risk…

2018

AIMS: Carotid intima media thickness (CIMT) predicts cardiovascular (CVD) events, but the predictive value of CIMT change is debated. We assessed the relation between CIMT change and events in individuals at high cardiovascular risk. METHODS AND RESULTS: From 31 cohorts with two CIMT scans (total n = 89070) on average 3.6 years apart and clinical follow-up, subcohorts were drawn: (A) individuals with at least 3 cardiovascular risk factors without previous CVD events, (B) individuals with carotid plaques without previous CVD events, and (C) individuals with previous CVD events. Cox regression models were fit to estimate the hazard ratio (HR) of the combined endpoint (myocardial infarction, s…

MaleMyocardial Infarctionlcsh:MedicinePROGRESSIONCardiovascular Medicine030204 cardiovascular system & hematologyVascular MedicineBiochemistryCarotid Intima-Media ThicknessGeographical locationsDISEASE0302 clinical medicineRisk FactorsGermanyMedicine and Health SciencesMedicineCardiac and Cardiovascular SystemsMyocardial infarctionskin and connective tissue diseaseslcsh:ScienceARTERY INTIMAStrokeIntersectoral CollaborationPOPULATIONCardiovascular Diseases/diagnosisMETABOLIC SYNDROMEeducation.field_of_studyKardiologiMultidisciplinaryAgricultural and Biological Sciences(all)VDP::Medical disciplines: 700::Clinical medical disciplines: 750QHazard ratioVDP::Medisinske Fag: 700::Klinisk medisinske fag: 750RMiddle AgedPrognosisPredictive value3. Good healthStrokeEuropeNeurologyItalyCardiovascular DiseasesHYPERTENSIVE MENCardiologycardiovascular systemMedicineFemaleResearch Articlemedicine.medical_specialtyHigh cardiovascular risk.Cerebrovascular DiseasesSciencePopulationCardiology030209 endocrinology & metabolismATHEROSCLEROSIS RISKArbetsmedicin och miljömedicin03 medical and health sciencesCarotid intima media thickness (CIMT)Internal medicineHumansEuropean Unionddc:610cardiovascular diseaseseducationAgedSwedenBiochemistry Genetics and Molecular Biology(all)Proportional hazards modelbusiness.industrylcsh:RHealth Risk AnalysisCorrectionOccupational Health and Environmental HealthAtherosclerosismedicine.diseaseConfidence intervalHealth CareIntima-media thicknessMYOCARDIAL-INFARCTIONMedical Biophysicslcsh:QVASCULAR RISKsense organsCarotid intima media thickness Cardiovascular riskPeople and placesMetabolic syndromebusinessFOLLOW-UP030217 neurology & neurosurgeryGenetics and Molecular Biology(all)
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Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

2017

Background and aims: Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). Methods: Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationw…

0301 basic medicineCandidate geneGenetic testingSettore MED/09 - Medicina InternaDatabases FactualDNA Mutational AnalysisDiseaseFamilial hypercholesterolemia030204 cardiovascular system & hematology0302 clinical medicineDyslipidemias; Genetic testing; National network; Internal Medicine; Cardiology and Cardiovascular MedicineRisk FactorsProspective StudiesProgram DevelopmentProspective cohort studymedicine.diagnostic_testGeneral MedicinePrognosisCholesterolPhenotypeItalyCardiology and Cardiovascular MedicineGenetic Markersmedicine.medical_specialtyNational networkDyslipidemias; Genetic testing; National networkMEDLINEHyperlipoproteinemia Type II03 medical and health sciencesDatabasesInternal medicinemedicineInternal MedicineHumansGenetic Predisposition to DiseaseFactualGenetic testingRetrospective StudiesDyslipidemiasbusiness.industrySettore MED/13 - ENDOCRINOLOGIARetrospective cohort studymedicine.diseaseAtherosclerosisDyslipidemias; Genetic testing; National network; Atherosclerosis; Cholesterol; DNA Mutational Analysis; Databases Factual; Genetic Markers; Genetic Predisposition to Disease; Humans; Hyperlipoproteinemia Type II; Italy; Phenotype; Prognosis; Program Development; Prospective Studies; Retrospective Studies; Risk Factors; Mutation; Internal Medicine; Cardiology and Cardiovascular Medicine030104 developmental biologyEndocrinologyDyslipidemiaGenetic markerMutationbusiness
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Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper fr…

2014

Item does not contain fulltext AIMS: Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). Given recent insights into the heterogeneity of genetic defects and clinical phenotype of HoFH, and the availability of new therapeutic options, this Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) critically reviewed available data with the aim of providing clinical guidance for the recognition and management of HoFH. METHODS AND RESULTS: Early diagn…

Homozygous Familial HypercholesterolemiaSettore MED/09 - Medicina InternaVascular damage Radboud Institute for Health Sciences [Radboudumc 16]MipomersenLipoprotein apheresisGene FrequencyDiagnosisconsensuMedicineChildPhenotypic heterogeneityCiències de la salutAnticholesteremic AgentsHomozygoteCiencias de la saludPedigree3. Good healthEuropePhenotypeCardiovascular DiseasesPractice Guidelines as TopicBlood Component Removallipids (amino acids peptides and proteins)HipercolesterolèmiaHIPERCOLESTEROLEMIA (DIAGNÓSTICO)Cardiology and Cardiovascular MedicineLipoprotein apheresismedicine.medical_specialtyConsensusClinical UpdateEvinacumabReviewsguide line1102 Cardiovascular Medicine And Haematology1016-5169Diagnosis DifferentialHyperlipoproteinemia Type IIGenetic HeterogeneityArcus SenilisHomozygous familial hypercholesterolaemiaGeneticsXanthomatosisHumansGynecologybusiness.industryStatinsHealth sciencesCholesterol LDLAtherosclerosisEzetimibeLomitapideLiver TransplantationEarly DiagnosisCardiovascular System & HematologyHomozygous familial hypercholesterolaemia; consensus; guide lineMutationEuropean atherosclerosis societybusinessAterosclerosiEuropean Heart Journal
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One year after the ESC/EAS guidelines on cholesterol control. What's the new evidence? What's missing?

2021

The recent ESC/EAS 2019 Guidelines for the management of dyslipidaemias are centred on the causal role of low density lipoprotein (LDL), or more generally apolipoprotein B (apoB)-containing lipoproteins, in atherosclerosis as an essential principle. Despite updated goals and recommendations, that have further highlighted the importance of a powerful reduction in LDL-C levels to reduce the individual CV risk, some challenges remain to be addressed in view of future guideline elaboration. In this review, we will summarize the new evidence from clinical trials since 2019 guideline release and discuss the possible challenges for the future.

medicine.medical_specialtySettore MED/09 - Medicina InternaApolipoprotein BControl (management)Guidelinechemistry.chemical_compoundRisk FactorsCardiovascular DiseasePrimary preventionCardiovascular disease DyslipidemiaInternal MedicineHumansMedicineIntensive care medicineDyslipidemiasSecondary preventionPrimary preventionbiologybusiness.industryCholesterolSecondary preventionLDL-C treatmentCholesterol LDLGuidelineAtherosclerosisClinical trialCholesterolchemistryCardiovascular Diseasesbiology.proteinlipids (amino acids peptides and proteins)Risk Factors: AtherosclerosiHydroxymethylglutaryl-CoA Reductase InhibitorsbusinessEuropean Journal of Internal Medicine
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