Search results for "Hyperlipoproteinemia Type II"

showing 10 items of 85 documents

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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Management of homozygous familial hypercholesterolaemia in two brothers

2018

Homozygous familial hypercholesterolaemia (HoFH) is a rare, genetic disorder of abnormally high levels of low-density lipoprotein cholesterol (LDL-C) requiring aggressive interventions to retard the evolution of atherosclerotic cardiovascular disease. We treated two brothers (ages 46 years and 47 years) with HoFH with statins, lipoproteinapheresis (LA) and the microsomal triglyceride transfer protein inhibitor lomitapide. Both brothers carried the p.Thr434Arg homozygous LDLR mutation and had childhood total cholesterol levels >700 mg/dL. Inter-LA LDL-C levels remained high; therefore, they were given escalating doses of oral lomitapide (5–10 mg/day). One brother was able to maintain LDL-C l…

Malemedicine.medical_specialty1523030204 cardiovascular system & hematologyMicrosomal triglyceride transfer proteinHyperlipoproteinemia Type II03 medical and health scienceschemistry.chemical_compound0302 clinical medicineRare DiseaseTotal cholesterolInternal medicinelipid disordersmedicineHumans1506030212 general & internal medicineLipoprotein cholesterolcongenital disordersbiologyAtherosclerotic cardiovascular diseasebusiness.industryAnticholesteremic AgentsSiblingsHomozygoteGenetic disorderGeneral MedicineMiddle Agedmedicine.diseaseLomitapideendocrine systemEndocrinologyReceptors LDLchemistryMutationLDL receptorbiology.proteinBenzimidazoleslipids (amino acids peptides and proteins)businessRare diseaseBMJ Case Reports
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Importance of HDL cholesterol levels and the total/ HDL cholesterol ratio as a risk factor for coronary heart disease in molecularly defined heterozy…

2001

Aims To assess the relationship of the lipid profile to coronary heart disease in a group of heterozygous familial hypercholesterolaemic subjects with similar age, sex, body mass index, prevalence of angiotensin converting enzyme DD genotype and type of low density lipoprotein receptor mutation. Methods and Results A total of 66 molecularly defined heterozygous familial hypercholesterolaemic subjects, 33 of whom had coronary heart disease, were studied. Clinical features, cardiovascular risk factors and lipid parameters were compared in both groups. Familial hypercholesterolaemic patients with coronary heart disease showed significantly lower values of mean plasma HDL cholesterol and a high…

Malemedicine.medical_specialtyGenotypeCoronary DiseasePeptidyl-Dipeptidase AHyperlipoproteinemia Type IIchemistry.chemical_compoundRisk FactorsStatistical significanceInternal medicinemedicineHumansRisk factorReceptors Lipoproteinbiologymedicine.diagnostic_testCholesterolbusiness.industryCholesterol HDLCase-control studyAngiotensin-converting enzymeMiddle AgedEndocrinologyBlood pressurechemistrySpainCase-Control StudiesMutationCardiologybiology.proteinRegression AnalysisFemalelipids (amino acids peptides and proteins)Cardiology and Cardiovascular MedicinebusinessLipid profileBody mass indexEuropean Heart Journal
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Association between phenotypic familial hypercholesterolaemia and telomere length in US adults: results from a multi-ethnic survey

2018

Aims: Familial hypercholesterolaemia (FH) accelerates atherosclerotic cardiovascular disease (ASCVD) and accordingly is the most potent hereditary cause of premature coronary heart disease. The association between telomere length (TL), a biological index of ageing, and FH has not been hitherto investigated. We addressed this question using data from the US National Health and Education National Surveys (NHANES, 1999-2002).Methods and results: We included individuals, who had TL measurements (with quantitative polymerase chain reaction method) and a phenotypic diagnosis of FH based on the Dutch Lipid Clinic Network (DLCN) criteria. Sample weights were applied for unequal probabilities of sel…

Malemedicine.medical_specialtyNational Health and Nutrition Examination SurveyCross-sectional studyPopulationFamilial hypercholesterolemia030204 cardiovascular system & hematologyHyperlipoproteinemia Type II03 medical and health sciences0302 clinical medicineInternal medicineMedicineHumans030212 general & internal medicineeducationNational Health and Education National Surveyseducation.field_of_studyTelomere lengthbusiness.industryMiddle AgedTelomeremedicine.diseaseNutrition SurveysObesityConfidence intervalUnited StatesCross-Sectional StudiesQuartileFemaleCardiology and Cardiovascular MedicinebusinessFamilial hypercholesterolaemiaBody mass indexEuropean Heart Journal
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Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm,…

2013

Summary Background Patients with homozygous familial hypercholesterolaemia respond inadequately to existing drugs. We aimed to assess the efficacy and safety of the microsomal triglyceride transfer protein inhibitor lomitapide in adults with this disease. Methods We did a single-arm, open-label, phase 3 study of lomitapide for treatment of patients with homozygous familial hypercholesterolemia. Current lipid lowering therapy was maintained from 6 weeks before baseline through to at least week 26. Lomitapide dose was escalated on the basis of safety and tolerability from 5 mg to a maximum of 60 mg a day. The primary endpoint was mean percent change in levels of LDL cholesterol from baseline …

Malemedicine.medical_specialtySettore MED/09 - Medicina InternaMipomersenPhases of clinical researchSocio-culturaleFamilial hypercholesterolemialdl-apheresismtp inhibitorBenzimidazoleMicrosomal triglyceride transfer proteinHyperlipoproteinemia Type IIchemistry.chemical_compoundlipid lowering therapyInternal medicineClinical endpointMedicinelomitapidebiologybusiness.industryCholesterolMedicine (all)Homozygotelomitapide; ldl-apheresis; lipid lowering therapy; homozygous familial hypercholesterolemia; mtp inhibitorGeneral MedicineCholesterol LDLhomozygous familial hypercholesterolemiamedicine.diseaseLomitapideEndocrinologyTolerabilitychemistrybiology.proteinFemalebusinessCarrier ProteinHuman
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Long-term outcomes after acute myocardial infarction in patients with familial hypercholesterolemia: The French registry of Acute ST-elevation and no…

2020

Patients with familial hypercholesterolemia (FH) are prone to develop acute myocardial infarction (AMI) at a younger age.The aim of the present study was to assess 5-year outcomes after AMI according to the presence of FH in a large multicenter cohort of patients.The French registry of Acute ST-elevation and non-ST-elevation Myocardial Infarction consists of nationwide surveys recruiting patients over a 1- to 2-month period every 5 years. Patients recruited in 2005 and 2010 were followed up to 5 years.Of 5147 patients discharged alive and in whom FH status could be assessed, 2.8% had probable/definite FH, using an adapted Dutch Lipid Clinic score. They were 12 years younger, on average, tha…

Malemedicine.medical_specialty[SDV]Life Sciences [q-bio]Endocrinology Diabetes and MetabolismFamilial hypercholesterolemia030204 cardiovascular system & hematologyCohort StudiesHyperlipoproteinemia Type II03 medical and health sciences0302 clinical medicineRisk FactorsInternal medicineSurveys and QuestionnairesInternal MedicinemedicineHumansIn patient030212 general & internal medicineMyocardial infarctionRegistriesNon-ST Elevated Myocardial InfarctionStrokeComputingMilieux_MISCELLANEOUSAgedNutrition and Dieteticsbusiness.industryST elevationHazard ratioMiddle Agedmedicine.diseasePrognosisConfidence interval3. Good healthCohortST Elevation Myocardial Infarction[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologieFemaleFranceHydroxymethylglutaryl-CoA Reductase InhibitorsCardiology and Cardiovascular MedicinebusinessJournal of clinical lipidology
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Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and …

2016

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PREDICTIONInternational CooperationPoolingInformation Storage and RetrievalDisease030204 cardiovascular system & hematologyGUIDELINESDoenças Cardio e Cérebro-vascularesLDL-Cholesterol0302 clinical medicineCardiovascular DiseaseMedicineData MiningCardiac and Cardiovascular Systems030212 general & internal medicineRegistriesDisease management (health)Cooperative BehaviorGENERAL-POPULATIONRISKFamilial hypercholesterolaemia ; LDL-Cholesterol ; Cardiovascular disease ; RegistryKardiologiCONSENSUS PANELDelivery of Health Care IntegratedGeneral MedicineOrvostudományokCardiovascular diseasePREVALENCE3. Good healthTreatment OutcomeCARDIOVASCULAR-DISEASEResearch DesignFamilial hypercholesterolaemiaCardiology and Cardiovascular MedicineRegistrymedicine.medical_specialtyBest practiceKlinikai orvostudományokAccess to InformationHyperlipoproteinemia Type II03 medical and health sciencesEUROPEAN ATHEROSCLEROSIS SOCIETYInternal MedicineHumansOrganizational ObjectivesBespokeStudy DesignGUIDANCEbusiness.industryPublic healthStudy designProfessional Practice GapsData sharingClinical trialCardiovascular System & Hematology3121 General medicine internal medicine and other clinical medicineFamily medicineFamilial hypercholesterolaemia; LDL-Cholesterol; Cardiovascular disease; Registry; Study design; Familial Hypercholesterolaemia Studies CollaborationFamilial Hypercholesterolaemia Studies CollaborationFamilial HypercholesterolaemiaINDIVIDUAL PARTICIPANT DATAbusiness
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