Search results for "Hypercholesterolaemia"

showing 10 items of 20 documents

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
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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
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The prevalence of cardiovascular risk factors and cardiovascular disease among primary care patients in Poland : results from the LIPIDOGRAM2015 study

2020

BACKGROUND AND AIM: To estimate the prevalence of cardiovascular (CV) disease and CV risk factors among Polish patients.METHODS: A nationwide cross-sectional study, LIPIDOGRAM2015, was carried out in Poland in the 4th quarter of 2015 and 1st and 2nd quarters of 2016; 438 primary care physicians enrolled 13,724 adult patients that sought medical care in primary health care practices.RESULTS: Nearly 19% of men and approximately 12% of women had cardiovascular disease (CVD). Over 60% of the recruited patients had hypertension (HTN), >80% had dyslipidaemia and <15% of patients were diagnosed with diabetes (DM). All of these disorders were more frequent in men. In 80% of patients the waist…

Blood GlucoseMalemedicine.medical_specialtyWaistCardiovascular risk factorsPopulationPrimary health carePrimary careDisease030204 cardiovascular system & hematology03 medical and health sciences0302 clinical medicineDiabetes mellitusInternal medicineDiabetes mellitusSurveys and QuestionnairesInternal MedicinemedicinePrevalenceHumanscardiovascular diseases030212 general & internal medicineObesityeducationCardiovascular risk factorsAgedDyslipidemiasHypercholesterolaemiaPrimary health careeducation.field_of_studybusiness.industrySmokingGeneral MedicineCholesterol LDLMiddle Agedmedicine.diseaseCardiovascular diseaseObesityCross-Sectional StudiesCardiovascular DiseasesHeart Disease Risk FactorsHypertensionFemalePolandWaist CircumferenceCardiology and Cardiovascular Medicinebusiness
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Familial hypercholesterolæmia in children and adolescents: Gaining decades of life by optimizing detection and treatment

2015

Contains fulltext : 155263.pdf (Publisher’s version ) (Open Access) Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness of the need for early detection and management of FH children. Familial hypercholesterolaemia is diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis, or positive genetic testin…

CounselingEuropean Atherosclerosis Society Consensus PanelPediatricsCardiac & Cardiovascular SystemsSTATIN THERAPYSettore MED/09 - Medicina InternaVascular damage Radboud Institute for Health Sciences [Radboudumc 16]Familial hypercholesterolemiaAdolescentsCarotid Intima-Media ThicknessINTIMA-MEDIA THICKNESSCost of IllnessPregnancyRisk FactorsDiagnosisYOUNG-ADULTSHIPERCOLESTEROLEMIA (DIAGNÓSTICO;TERAPIA;TENDÊNCIAS)Family historyYoung adultChildChildrenEvidence-Based Medicinemedicine.diagnostic_testHomozygoteMiddle AgedFamilial hypercholesterolæmia3. Good healthEconomics MedicalAdolescents; Children; Consensus statement; Diagnosis; Ezetimibe; Familial hypercholesterolæmia; LDL cholesterol; PCSK9 inhibitor; Statin; Treatment; Cardiology and Cardiovascular MedicineCARDIOVASCULAR-DISEASEConsensus statementLDL cholesterolFemalelipids (amino acids peptides and proteins)Cardiology and Cardiovascular MedicineFamilial hypercholesterolaemiaLife Sciences & BiomedicineDiagnosimedicine.drugAdultHeterozygotemedicine.medical_specialtyStatinAdolescentmedicine.drug_classPCSK9 inhibitorENDOTHELIAL FUNCTIONLOW-DENSITY-LIPOPROTEINReviewsCOST-EFFECTIVENESS ANALYSIS1102 Cardiovascular Medicine And HaematologyMedication AdherenceHyperlipoproteinemia Type IIYoung AdultLife ExpectancyEzetimibemedicineHumansCORONARY-HEART-DISEASEGenetic TestingGenetic testingPregnancyScience & TechnologyClinical Laboratory Techniquesbusiness.industryPreventionStatinAtherosclerosismedicine.diseaseEzetimibeDietASSOCIATION EXPERT PANELBLOOD-PRESSURE RESEARCHPregnancy ComplicationsTreatmentEarly DiagnosisIntima-media thicknessCardiovascular System & HematologyDietary SupplementsPhysical therapyCardiovascular System & Cardiologybusiness
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Dietary indicaxanthin from cactus pear (Opuntia ficus-indica L. Mill) fruit prevents eryptosis induced by oxysterols in a hypercholesterolaemia-relev…

2015

Toxic oxysterols in a hypercholesterolaemia-relevant proportion cause suicidal death of human erythrocytes or eryptosis. This process proceeds through early production of reactive oxygen species (ROS), release of prostaglandin (PGE2) and opening of PGE2-dependent Ca channels, membrane phosphatidylserine (PS) externalisation, and cell shrinkage. The present study was the first to reveal that a bioavailable phytochemical, indicaxanthin (Ind) from cactus pear fruit, in a concentration range (1·0–5·0 μM) consistent with its plasma level after a fruit meal, prevents PS externalisation and cell shrinkage in a dose-dependent manner when incubated with isolated healthy human erythrocytes exposed to…

ErythrocytesOxysterolEndotheliumPyridinesHypercholesterolemiaBetalainsEryptosisMedicine (miscellaneous)PhosphatidylserinesBiologyPharmacologyDinoprostonechemistry.chemical_compoundDietary indicaxanthin:Settore BIO/10 - BiochimicamedicineCell AdhesionHuman Umbilical Vein Endothelial CellsHumansHypercholesterolaemiachemistry.chemical_classificationReactive oxygen speciesNutrition and DieteticsCell DeathHuman erythrocytesEndothelial CellsOpuntiaGlutathionePhosphatidylserineOxysterolsGlutathioneBetaxanthinsDietEndothelial stem cellSterolsmedicine.anatomical_structurechemistryBiochemistryFruit [Dietary indicaxanthin]lipids (amino acids peptides and proteins)CalciumReactive Oxygen SpeciesIndicaxanthinEx vivoThe British journal of nutrition
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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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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
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Individual analysis of patients with HoFH participating in a phase 3 trial with lomitapide: The Italian cohort

2015

Abstract Background and aims The efficacy and safety of lomitapide as adjunct treatment for adults with homozygous familial hypercholesterolaemia (HoFH) have been confirmed in a phase 3 trial. Given the small number of patients (N = 29), and variations in patient characteristics, examining individual cases provides additional details regarding patient management with lomitapide. Here, we examine the details of the Italian patient cohort in the phase 3 trial. Methods and results The methodology of the multinational, single-arm, open-label, 78-week, dose-escalation, phase 3 trial has been previously reported. The current report details the Italian cohort of six patients (three males, three fe…

MalePediatricsTime FactorsSettore MED/09 - Medicina InternaEndocrinology Diabetes and MetabolismHoFHMedicine (miscellaneous)030204 cardiovascular system & hematologychemistry.chemical_compound0302 clinical medicineEndocrinologyReceptorsNutrition and DieteticMedicine030212 general & internal medicineFamilial hypercholesterolaemia; FH; HoFH; Homozygous familial hypercholesterolaemia; Lomitapide; Therapy; Medicine (miscellaneous); Nutrition and Dietetics; Endocrinology Diabetes and Metabolism; Cardiology and Cardiovascular MedicineFH; Familial hypercholesterolaemia; HoFH; Homozygous familial hypercholesterolaemia; Lomitapide; Therapy; Adolescent; Adult; Anticholesteremic Agents; Benzimidazoles; Biomarkers; Cholesterol LDL; Female; Genetic Predisposition to Disease; Humans; Hyperlipoproteinemia Type II; Italy; Male; Middle Aged; Phenotype; Receptors LDL; Time Factors; Treatment Outcome; Young Adult; Heterozygote; MutationNutrition and DieteticsAnticholesteremic AgentsMiddle AgedPatient managementDiabetes and MetabolismCholesterolPhenotypeTreatment OutcomeTolerabilityItalyCohortPopulation studyFemaleFamilial hypercholesterolaemiaCardiology and Cardiovascular MedicineAdultmedicine.medical_specialtyHeterozygoteAdolescentSocio-culturaleFHLDLHyperlipoproteinemia Type II03 medical and health sciencesIndividual analysisYoung AdultHomozygous familial hypercholesterolaemiaHumansGenetic Predisposition to DiseaseAdverse effectbusiness.industryCholesterol LDLLomitapideLomitapideClinical trialchemistryReceptors LDLMutationBenzimidazolesTherapybusinessBiomarkers
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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
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The lipid-lowering effects of lomitapide are unaffected by adjunctive apheresis in patients with homozygous familial hypercholesterolaemia – A post-h…

2015

AbstractObjectiveLomitapide (a microsomal triglyceride transfer protein inhibitor) is an adjunctive treatment for homozygous familial hypercholesterolaemia (HoFH), a rare genetic condition characterised by elevated low-density lipoprotein-cholesterol (LDL-C), and premature, severe, accelerated atherosclerosis. Standard of care for HoFH includes lipid-lowering drugs and lipoprotein apheresis. We conducted a post-hoc analysis using data from a Phase 3 study to assess whether concomitant apheresis affected the lipid-lowering efficacy of lomitapide.MethodsExisting lipid-lowering therapy, including apheresis, was to remain stable from Week −6 to Week 26. Lomitapide dose was escalated on the basi…

MaleTime FactorsSettore MED/09 - Medicina InternaGastroenterologyMicrosomal triglyceride transfer proteinchemistry.chemical_compoundLipoprotein apheresisMedicineHyperlipoproteinemia Type IIHomozygous familial hypercholesterolaemia; Lipoprotein apheresis; Lomitapide; Adult; Anticholesteremic Agents; Benzimidazoles; Biomarkers; Blood Component Removal; Cholesterol LDL; Combined Modality Therapy; Female; Genetic Predisposition to Disease; Humans; Hyperlipoproteinemia Type II; Lipoprotein(a); Male; Phenotype; Time Factors; Treatment Outcome; Young Adult; Homozygote; Cardiology and Cardiovascular MedicinebiologyAnticholesteremic AgentsHomozygoteLipoprotein(a)Combined Modality TherapyCholesterolPhenotypeTreatment OutcomeBlood Component Removallipids (amino acids peptides and proteins)FemaleCardiology and Cardiovascular MedicineAdultmedicine.medical_specialtySocio-culturaleLipoprotein apheresiArticleLDLHyperlipoproteinemia Type IIYoung AdultHomozygous familial hypercholesterolaemiaInternal medicinePost-hoc analysisHumansGenetic Predisposition to DiseaseHomozygous familial hypercholesterolaemia; Lipoprotein apheresis; Lomitapide; Cardiology and Cardiovascular Medicinebusiness.industryCholesterol LDLLomitapideLomitapideEndocrinologyApheresischemistryConcomitantAdjunctive treatmentbiology.proteinBenzimidazolesbusinessBiomarkersLipoprotein(a)Atherosclerosis
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