0000000000373404

AUTHOR

Genovefa Kolovou

showing 9 related works from this author

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collabora…

2018

PubMed: 30270054

International CooperationMÉTODOS EPIDEMIOLÓGICOS030204 cardiovascular system & hematologyNationwide surveyGlobal HealthHealth Services AccessibilityDoenças Cardio e Cérebro-vascularesMOLECULAR-GENETICS0302 clinical medicineRisk FactorsPrevalenceCARDIOVASCULAR RISK-FACTORS030212 general & internal medicineCooperative BehaviorDEFECTIVE APOLIPOPROTEIN B-100GENERAL-POPULATIONeducation.field_of_studymedicine.diagnostic_testAnticholesteremic AgentsFamilial hypercholesterolaemia; FHSC; Primary dyslipidaemia; Anticholesteremic Agents; Biomarkers; Cholesterol LDL; Cooperative Behavior; Genetic Predisposition to Disease; Health Care Surveys; Health Services Accessibility; Healthcare Disparities; Humans; Hyperlipoproteinemia Type II; Phenotype; Predictive Value of Tests; Prevalence; Risk Factors; Treatment Outcome; Blood Component Removal; Global Health; International CooperationEAS Familial Hypercholesterolaemia Studies Collaboration3. Good healthPREVALENCECholesterolPhenotypeTreatment OutcomeBlood Component RemovalCORONARY-ARTERY-DISEASENATIONWIDE SURVEYCardiology and Cardiovascular MedicineFamilial hypercholesterolaemiamedicine.medical_specialtyCardiovascular risk factorsPopulationLDL-RECEPTOR1102 Cardiovascular Medicine And HaematologyLDLHyperlipoproteinemia Type II03 medical and health sciencesPredictive Value of TestsmedicineHumans:Medicine [Science]Genetic Predisposition to DiseasePrimary dyslipidaemiaHealthcare Disparitiesfhsc; familial hypercholesterolaemia; primary dyslipidaemiaeducationGenetic testingGovernmentPublic healthEAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) InvestigatorsSAFEHEART REGISTRY1103 Clinical SciencesFHSCCholesterol LDLCardiovascular System & HematologyFamily medicineHealth Care Surveys3121 General medicine internal medicine and other clinical medicineCardiovascular System & CardiologyBusinessFOLLOW-UPBiomarkers
researchProduct

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

2021

Background The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. In this study, we aimed to characterise the adult population with heterozygous familial hypercholesterolaemia and described how it is detected and managed globally. Methods Using FHSC global registry data, we did a cross-sectional assessment of adults (aged 18 years or older) with a clinical or genetic diagnosis of probable or definite heterozygous familial hypercholesterolaemia at the time they were entered into the registries. Dat…

MaleSettore MED/09 - Medicina InternaArterial diseaseCross-sectional studyAdult populationCoronary DiseaseDiseaseGlobal HealthMedical and Health SciencesDoenças Cardio e Cérebro-vascularesAnticholesteremic AgentMonoclonalPrevalenceRegistriesFamilial HypercholesterolemiaHumanizedStroke11 Medical and Health SciencesLS2_9Studies CollaborationAnticholesteremic AgentsGeneral MedicineHeart Disease Risk FactorMiddle AgedFHSC global registry dataEuropeTreatment OutcomeLower prevalenceGuidancelipids (amino acids peptides and proteins)FemaleProprotein Convertase 9Familial hypercholesterolaemiaLife Sciences & BiomedicineHumanAdultmedicine.medical_specialtyCombination therapyFHSC global registry heterozygous familial hypercholesterolaemiaCardiovascular risk factorsAntibodies Monoclonal HumanizedInsightsAntibodiesNOHyperlipoproteinemia Type IIClinicianMedicine General & InternalInternal medicineGeneral & Internal MedicineHealth SciencesmedicineHumansEAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)Cross-Sectional StudieScience & TechnologyGlobal Perspectivebusiness.industryCholesterol LDLmedicine.diseaseCross-Sectional StudiesHeart Disease Risk FactorsHydroxymethylglutaryl-CoA Reductase InhibitorHydroxymethylglutaryl-CoA Reductase Inhibitorsbusiness
researchProduct

Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study

2022

Backgroundand aim: Autosomal recessive hypercholesterolemia (ARH) is a rare autosomal recessive disorder of low-density lipoprotein (LDL) metabolism caused by pathogenic variants in the LDLRAP1 gene. Like homozygous familial hypercholesterolemia, ARH is resistant to conventional LDL-lowering medications and causes a high risk of atherosclerotic cardiovascular diseases (ASCVDs) and aortic valve stenosis. Lomitapide is emerging as an efficacious therapy in classical HoFH, but few data are available for ARH.Results: This is a subanalysis carried out on nine ARH patients included in the Pan-European Lomitapide Study. The age at starting lomitapide was 46 (interquartile range (IQR), 39.0–65.5) y…

safetylomitapidelong-termsafety.Settore MED/09 - Medicina Internaefficacyrare diseaseReal-world studySDG 3 - Good Health and Well-beingSettore BIO/14 - FarmacologiaGeneticsMolecular MedicineLDL-C; Real-world study; autosomal recessive hypercholesterolaemia; efficacy; lomitapide; long-term; rare disease; safetyautosomal recessive hypercholesterolaemiaLDL-CGenetics (clinical)
researchProduct

Large-scale association analysis identifies new risk loci for coronary artery disease

2016

Coronary artery disease (CAD) is the commonest cause of death. Here, we report an association analysis in 63,746 CAD cases and 130,681 controls identifying 15 loci reaching genome-wide significance, taking the number of susceptibility loci for CAD to 46, and a further 104 independent variants (r 2 < 0.2) strongly associated with CAD at a 5% false discovery rate (FDR). Together, these variants explain approximately 10.6% of CAD heritability. Of the 46 genome-wide significant lead SNPs, 12 show a significant association with a lipid trait, and 5 show a significant association with blood pressure, but none is significantly associated with diabetes. Network analysis with 233 candidate genes …

AdultAsian Continental Ancestry GroupMaleCandidate geneBIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICAPopulationEuropean Continental Ancestry GroupQuantitative Trait LociCADGenome-wide association studySingle-nucleotide polymorphismCoronary Artery Disease030204 cardiovascular system & hematologyBiologyQuantitative trait locusBioinformaticsPolymorphism Single NucleotideArticleWhite Peoplecoronary artery disease risk lociCell LineCoronary artery disease03 medical and health sciences0302 clinical medicineAsian PeopleRisk FactorsmedicineHumansgeneticsGene Regulatory NetworksGenetic Predisposition to Diseasecardiovascular diseasesPolymorphismeducation030304 developmental biologyGenetic associationAgedGenetics0303 health scienceseducation.field_of_studyAdult Aged Asian Continental Ancestry Group Cell Line Coronary Artery Disease; genetics European Continental Ancestry Group; genetics Female Gene Regulatory Networks Genetic Predisposition to Disease Genome-Wide Association Study Humans Male Middle Aged Polymorphism; Single Nucleotide Quantitative Trait Loci Risk FactorsSingle NucleotideMiddle Agedmedicine.disease3. Good healthFemaleGenome-Wide Association StudyNature Genetics
researchProduct

Lifestyle recommendations for the prevention and management of metabolic syndrome: an international panel recommendation.

2017

The importance of metabolic syndrome (MetS) lies in its associated risk of cardiovascular disease and type 2 diabetes, as well as other harmful conditions such as nonalcoholic fatty liver disease. In this report, the available scientific evidence on the associations between lifestyle changes and MetS and its components is reviewed to derive recommendations for MetS prevention and management. Weight loss through an energy-restricted diet together with increased energy expenditure through physical activity contribute to the prevention and treatment of MetS. A Mediterranean-type diet, with or without energy restriction, is an effective treatment component. This dietary pattern should be built …

Estils de vidamedicine.medical_specialtylifestyleSíndrome metabòlica -- PrevencióMedicine (miscellaneous)Dietary pattern030209 endocrinology & metabolismDiseaseType 2 diabetes030204 cardiovascular system & hematologypanel recommendationWhole grains03 medical and health scienceschemistry.chemical_compound0302 clinical medicineWeight lossEnvironmental healthCardiovascular DiseaseNonalcoholic fatty liver diseasemedicineHumansLife StyleMetabolic SyndromeNutrition and Dieteticsbusiness.industryFeature ArticleUnsaturated fatPanel recommendationDietary patternmedicine.diseaseLifestyleDietchemistryDiabetes Mellitus Type 2Cardiovascular DiseasesPhysical therapydietary patternMetabolic syndromemedicine.symptombusinessHuman
researchProduct

Ageing, longevity, exceptional longevity and related genetic and non genetics markers: panel statement

2018

In May 2012, a group of scientists and clinicians met in Athens (Greece) to consider the relevance of ageing, longevity, exceptional longevity and related genetic and non genetic markers. During this meeting, we firstly reviewed recent epidemiological and clinical studies on ageing, longevity and exceptional longevity, briefly analysed the ageing theories and discussed successful and unsuccessful ageing also taking into account the evolutionary perspective. Secondly, we considered the three phenotypes based on the definition of ageing, longevity and exceptional longevity and the associated biomarkers. Third, we discussed proposed treatments suitable to counteract or slow down ageing. Finall…

Genetic MarkersGerontologyAgingStatement (logic)media_common.quotation_subjectLongevityMESH: Genetic MarkersBiologyMESH: Phenotype[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemGenetic MarkerAnimalsHumansMESH: AgingMESH: AnimalsComputingMilieux_MISCELLANEOUSmedia_commonPharmacologyMESH: HumansAnimalLongevityCongresses as TopicPhenotypeAgeing Longevity Age-related diseasesMESH: LongevityAgeingBiological MarkerMESH: BiomarkersCardiology and Cardiovascular MedicineMESH: Congresses as TopicBiomarkersHuman
researchProduct

The Challenges in Moving from Ageing to Successful Longevity

2014

During the last decades survival has significantly improved and centenarians are becoming a fast-growing group of the population. Human life span is mainly dependent on environmental and genetic factors. Favourable modifications of lifestyle factors (e.g. physical activity, diet and not smoking) and healthcare (e.g. effective vascular disease prevention) have also increased human life span. Genetic factors contribute to the variation of human life span by around 25%, which is believed to be more profound after 85 years of age. It is likely that multiple factors influence life span and we need answers to questions such as: 1) What does it take to reach 100?, 2) Do centenarians have better he…

ageing longevity age-related diseasesGerontologyAgingYounger ageHormone Replacement Therapymedia_common.quotation_subjectLongevityPopulationHealth careAnimalsHumansMedicineeducationLife Stylemedia_commonSettore MED/04 - Patologia GeneraleAged 80 and overPharmacologyeducation.field_of_studyAnimalbusiness.industryLongevityCognitionDietNutrigenomicsAgeingLife expectancyCardiology and Cardiovascular MedicinebusinessHumanCurrent Vascular Pharmacology
researchProduct

Worldwide experience of homozygous familial hypercholesterolaemia:retrospective cohort study

2022

[Background]: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance about its management and prognosis stems from small studies, mostly from high-income countries. The objective of this study was to assess the clinical and genetic characteristics, as well as the impact, of current practice on health outcomes of HoFH patients globally.

AdultMaleHomozygous Familial HypercholesterolemiaAdolescentretrospective studyCHILDRENDoenças Cardio e Cérebro-vascularesCohort StudiesYoung AdultMedicine General & InternalGeneral & Internal MedicineCardiovascular DiseaseHumansRegistriesLIPOPROTEIN-APHERESISChild11 Medical and Health SciencesRetrospective StudiesHomozygous Familial Hypercholesterolaemia International Clinical CollaboratorsScience & TechnologyGUIDANCEclinical characteristicEVOLOCUMABHomozygous familial hypercholesterolemia; Worldwide; Therapies; Cardiovascular diseaseGeneral MedicineCARECardiovascular diseaseOPEN-LABELEFFICACYINSIGHTSTherapiesChild PreschooloutcomeFemalegeneticFamilial HypercholesterolaemiaLife Sciences & BiomedicineWorldwide
researchProduct

Efficacy and safety of lomitapide in homozygous familial hypercholesterolaemia: the pan-European retrospective observational study

2021

Abstract Aims Lomitapide is a lipid-lowering agent indicated as an adjunct therapy for adult homozygous familial hypercholesterolaemia (HoFH). This study evaluated the medium-term effectiveness and safety of lomitapide in a large cohort of HoFH patients in Europe. Methods and results In a multicentre retrospective, observational study including 75 HoFH patients treated with lomitapide in a real-world clinical setting from 9 European countries, low-density lipoprotein cholesterol (LDL-C) changes, adverse events (AEs), and major adverse cardiovascular events (MACE) were assessed. After a median 19 months (interquartile range 11–41 months) of treatment with a mean dosage of 20 mg of lomitapide…

AdultHomozygous Familial HypercholesterolemiaSettore MED/09 - Medicina InternaEpidemiologyAnticholesteremic AgentsHomozygoteMedium-term efficacyCholesterol LDLMedium-term safetyBenzimidazoleLomitapideHomozygous Familial Hypercholesterolemia; atherosclerosis; lomitapide; medium-term efficacy; medium-term safetyHyperlipoproteinemia Type IIHomozygous familial hypercholesterolaemiaRetrospective StudieAtherosclerosiAnticholesteremic AgentHumansBenzimidazolesatherosclerosisCardiology and Cardiovascular MedicineRetrospective StudiesHuman
researchProduct