Search results for "Hyperlipoproteinemia Type I."

showing 10 items of 94 documents

Effects of medication, treatment, and behavioral beliefs on intentions to take medication in patients with familial hypercholesterolemia

2018

Although familial hypercholesterolemia (FH) can be effectively managed using cholesterol-lowering medication, patients often fall short of complete treatment adherence. Identifying the psychological factors associated with self-regulation of FH medication is important to inform interventions to maximize adherence. The aim of the present study was to test an integrated psychological model in predicting FH patients' intentions to take medication.FH patients attending clinics in seven countries were invited to participate in a cross-sectional survey study. Consenting patients (N = 551) completed self-report measures of generalized beliefs about medication overuse and harms, beliefs in treatmen…

MaleDisease statusHealth Knowledge Attitudes PracticeTreatment adherencePsychological interventionFamilial hypercholesterolemiaIntention030204 cardiovascular system & hematology0302 clinical medicineuskomuksetMedicinehyperlipidemia030212 general & internal medicineta515common sense modelAnticholesteremic AgentsTheory of planned behaviorSurvey researchta3141Middle AgedTreatment OutcomeSENSO COMUMFemaletheory of planned behaviorCardiology and Cardiovascular MedicinemedicinesAdultmedicine.medical_specialtyDown-RegulationModels PsychologicalRisk AssessmentMedication AdherenceHyperlipoproteinemia Type II03 medical and health sciencesHumansIn patientterve järkiPsychiatryAgedillness perceptionsbusiness.industrysairauskäsityksetCholesterol LDLmedicine.diseaseTaking medicationSelf CarelääkkeetCross-Sectional StudiesbeliefsbusinessBiomarkers
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Different impacts of cardiovascular risk factors on oxidative stress.

2011

The objective of the study was to evaluate oxidative stress (OS) status in subjects with different cardiovascular risk factors. With this in mind, we have studied three models of high cardiovascular risk: hypertension (HT) with and without metabolic syndrome, familial hypercholesterolemia (FH) and familial combined hyperlipidemia (FCH) with and without insulin resistance. Oxidative stress markers (oxidized/reduced glutathione ratio, 8-oxo-deoxyguanosine and malondialdehide) together with the activity of antioxidant enzyme triad (superoxide dismutase, catalase, glutathione peroxidase) and activation of both pro-oxidant enzyme (NAPDH oxidase components) and AGTR1 genes, as well as antioxidant…

MaleGPX1Antioxidantmedicine.medical_treatmentGlutathione reductaseHyperlipidemia Familial Combinedmedicine.disease_causelcsh:Chemistrychemistry.chemical_compoundRisk FactorsMalondialdehydeoxidative stressglutathione peroxidaselcsh:QH301-705.5Spectroscopychemistry.chemical_classificationbiologyfamilial hypercholesterolemiaChemistryGlutathione peroxidaseGeneral MedicineMiddle AgedCatalaseGlutathioneComputer Science ApplicationsGlutathione Reductase8-Hydroxy-2'-DeoxyguanosineCardiovascular DiseasesFemaleThioredoxinAdultmedicine.medical_specialtyhypertensionmRNACatalysisGlutathione SynthaseArticleInorganic ChemistrySuperoxide dismutaseHyperlipoproteinemia Type IIInternal medicinemedicineHumansPhysical and Theoretical ChemistryMolecular BiologySuperoxide DismutaseGene Expression ProfilingOrganic ChemistryDeoxyguanosineNADPH OxidasesGlutathionesuperoxide dismutasesPhosphoproteinscombined familial dyslipidemiaEndocrinologylcsh:Biology (General)lcsh:QD1-999biology.proteinOxidative stressBiomarkersInternational journal of molecular sciences
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Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvi…

2015

Background Familial hypercholesterolemia (FH) is one of the commonest monogenic disorders, predominantly inherited as an autosomal dominant trait. When untreated, it results in early coronary heart disease. The vast majority of FH remains undiagnosed in Latvia. The identification and early treatment of affected individuals remain a challenge worldwide. Most cases of FH are caused by mutations in one of four genes, APOB, LDLR, PCSK9, or LDLRAP1. The spectrum of disease-causing variants is very diverse and the variation detection panels usually used in its diagnosis cover only a minority of the disease-causing gene variants. However, DNA-based tests may provide an FH diagnosis for FH patients…

MaleNonsynonymous substitutionApolipoprotein BCoronary Artery DiseaseFamilial hypercholesterolemiaDiseaseCohort StudiesPCSK9Genetics(clinical)Family historyGenetics (clinical)Aged 80 and overGeneticseducation.field_of_studybiologySerine EndopeptidasesHigh-Throughput Nucleotide SequencingAutosomal dominant traitMiddle AgedLDLRAP1Apolipoprotein B-100Femalelipids (amino acids peptides and proteins)Proprotein ConvertasesProprotein Convertase 9APOBResearch ArticleAdultPopulationPolymorphism Single NucleotideLDLHyperlipoproteinemia Type IIYoung AdultGeneticsmedicineHumanseducationAdaptor Proteins Signal TransducingAgedDiagnostic toolsPCSK9Cholesterol LDLmedicine.diseaseLatviaGenetics PopulationLDLRReceptors LDLMutationNext-generation sequencingbiology.proteinBMC Medical Genetics
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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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Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.

2015

Background: Monogenic hypertriglyceridemia (HTG) may result from mutations in some genes which impair the intravascular lipolysis of triglyceride (TG)-rich lipoproteins mediated by the enzyme Lipoprotein lipase (LPL). Mutations in the LPL gene are the most frequent cause of monogenic HTG (familial chylomicronemia) with recessive transmission. Methods: The LPL gene was resequenced in 149 patients with severe HTG (TG>10mmol/L) and 106 patients with moderate HTG (TG>4.5 and <10mmol/L) referred to tertiary Lipid Clinics in Italy. Results: In the group of severe HTG, 26 patients (17.4%) were homozygotes, 9 patients (6%) were compound heterozygotes and 15 patients (10%) were simple heter…

MaleSettore MED/09 - Medicina InternaDNA Mutational AnalysisFamilial chylomicronemia; Gene variants; Lipoprotein lipase; Pancreatitis; Primary hypertriglyceridemiaCompound heterozygositymedicine.disease_causeSeverity of Illness IndexPrimary hypertriglyceridemiaTertiary Care Centerschemistry.chemical_compoundGene FrequencyFamilial chylomicronemia; Gene variants; Lipoprotein lipase; Pancreatitis; Primary hypertriglyceridemia; Cardiology and Cardiovascular MedicineChildLipoprotein lipaseMutationHomozygoteMiddle AgedPhenotypeItalyChild PreschoolFemaleHyperlipoproteinemia Type ICardiology and Cardiovascular MedicineFamilial chylomicronemiaAdultmedicine.medical_specialtyGene variantHeterozygoteAdolescentBiologyGene variantsYoung AdultInternal medicinemedicineLipolysisHumansGenetic Predisposition to DiseaseTriglyceridesAgedPancreatitiTriglycerideHypertriglyceridemiaInfantHeterozygote advantageLipoprotein lipasemedicine.diseaseLipoprotein LipaseEndocrinologychemistryPancreatitisMutationPancreatitisBiomarkersAtherosclerosis
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Factor VII Activity Is an Independent Predictor of Cardiovascular Mortality in Elderly Women of a Sicilian Population: Results of an 11-year Follow-up

2002

SummaryThe aim of the Epidemiological project “Ventimiglia di Sicilia” is to identify the cardiovascular risk factors in a Sicilian population with a low risk profile and healthy nutritional habits. The risk of cardiovascular mortality in older subjects (over 60 years of age) is presented for an 11 year follow-up. Females showed higher prevalence of diabetes mellitus, hypertension, obesity and higher levels of total, LDL and HDL cholesterol, factor VII activity and fibrinogen compared to males. Cardiovascular mortality was related to hypertension and obesity in males, to high factor VII activity, obesity and diabetes mellitus in females. In a Logistic Regression model the same variables wer…

MaleSettore MED/09 - Medicina InternaEpidemiologyComorbidityLogistic regressionFibrinogenCohort Studieschemistry.chemical_compoundRisk FactorsEpidemiologyPrevalenceFactor VII activityLipoproteinSicilyeducation.field_of_studyFactor VIISmokingAge FactorsHematologyFactor VIIMiddle AgedCardiovascular diseaseCardiovascular DiseasesHypertensionFemalemedicine.drugAdultRiskmedicine.medical_specialtyHypercholesterolemiaPopulationHyperlipoproteinemia Type IISex FactorsDiabetes mellitusDiabetes MellitusmedicineHumansObesityeducationAgedCoagulationbusiness.industryCholesterolmedicine.diseaseObesitySurgerychemistrybusinessFollow-Up StudiesDemographyThrombosis and Haemostasis
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Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

2018

Abstract Background and aims Familial hypercholesterolemia (FH) is an inherited disorder characterized by high levels of blood cholesterol from birth and premature coronary heart disease. Thus, the identification of FH patients is crucial to prevent or delay the onset of cardiovascular events, and the availability of a tool helping with the diagnosis in the setting of general medicine is essential to improve FH patient identification. Methods This study evaluated the performance of the Dutch Lipid Clinic Network (DLCN) score in FH patients enrolled in the LIPIGEN study, an Italian integrated network aimed at improving the identification of patients with genetic dyslipidaemias, including FH.…

MaleSettore MED/09 - Medicina InternaGenetic testingPredictive Value of TestFamilial hypercholesterolemia030204 cardiovascular system & hematologyDecision Support Technique0302 clinical medicineRetrospective StudieRisk FactorsCardiovascular DiseaseGenetic MarkerProspective Studies030212 general & internal medicineAge of OnsetProspective cohort studyeducation.field_of_studymedicine.diagnostic_testMiddle AgedDutch Lipid Clinic Network score; Familial hypercholesterolemia; Genetic testing; Adult; Age of Onset; Biomarkers; Cardiovascular Diseases; Cholesterol LDL; Female; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing; Humans; Hyperlipoproteinemia Type II; Italy; Male; Middle Aged; Phenotype; Predictive Value of Tests; Prospective Studies; Reproducibility of Results; Retrospective Studies; Risk Assessment; Risk Factors; Decision Support Techniques; Mutation3. Good healthCholesterolPhenotypeItalyCardiovascular DiseasesFemaleCardiology and Cardiovascular MedicineHumanAdultGenetic Markersmedicine.medical_specialtyDutch Lipid Clinic Network scorePopulationFamilial hypercholesterolemiaReproducibility of ResultPhysical examinationDutch Lipid Clinic Network score; Familial hypercholesterolemia; Genetic testing; Cardiology and Cardiovascular MedicineRisk AssessmentLDLDecision Support TechniquesHyperlipoproteinemia Type II03 medical and health sciencesPredictive Value of TestsInternal medicinemedicineHumansGenetic Predisposition to DiseaseFirst-degree relativeseducationRetrospective StudiesGenetic testingDutch Lipid Clinic Network score; Familial hypercholesterolemia; Genetic testingbusiness.industryRisk FactorReproducibility of ResultsSettore MED/13 - ENDOCRINOLOGIABiomarkerCholesterol LDLmedicine.diseaseMissing dataDutch Lipid Clinic Network score Familial hypercholesterolemia Genetic testingProspective StudieMutationAge of onsetbusinessBiomarkers
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Efficacy of Lomitapide in the Treatment of Familial Homozygous Hypercholesterolemia: Results of a Real-World Clinical Experience in Italy

2017

Homozygous familial hypercholesterolaemia (HoFH) is a rare form of inherited dyslipidemia resistant to conventional cholesterol-lowering medications so that lipoprotein apheresis (LA) is usually required. Lomitapide has been approved for the treatment of HoFH. The aim of this study was to evaluate the benefits of lomitapide in HoFH patients followed with the usual clinical care. Homozygous familial hypercholesterolaemia (HoFH) is a rare form of inherited dyslipidemia resistant to conventional cholesterol-lowering medications so that lipoprotein apheresis (LA) is usually required. Lomitapide has been approved for the treatment of HoFH. The aim of this study was to evaluate the benefits of lo…

MaleSettore MED/09 - Medicina InternaHyperlipidemia Familial Combined030204 cardiovascular system & hematologyPharmacologyBenzimidazolecholesterol-lowering effect; clinical practice; genetics; lomitapide; severe hypercholesterolemia; medicine (all); pharmacology (medical)cholesterol-lowering effectchemistry.chemical_compound0302 clinical medicineRetrospective StudieAnticholesteremic Agentgenetics030212 general & internal medicineAged 80 and overAnticholesteremic AgentsHomozygoteGeneral MedicineMiddle Agedclinical practiceSafety profileItalylipids (amino acids peptides and proteins)FemaleHumanAdultmedicine.medical_specialtySocio-culturaleLiver ultrasoundLDLRAP1 geneHyperlipoproteinemia Type II03 medical and health sciencesGeneticInternal medicinemedicineHumansLiver damagemedicine (all)Familial homozygous hypercholesterolemiaAgedRetrospective Studieslomitapidebusiness.industrysevere hypercholesterolemiamedicine.diseaseRheumatologyLomitapidepharmacology (medical)chemistryBenzimidazolesbusinessDyslipidemia
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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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