Search results for "Hyperlipoproteinemia Type II"

showing 10 items of 85 documents

Postprandial Changes in Chemokines Related to Early Atherosclerotic Processes in Familial Hypercholesterolemic Subjects: A Preliminary Study.

2015

Familial hypercholesterolemia (FH) is associated with higher levels of inflammatory mediators such as chemokines, which contribute to an increased risk of premature atherosclerosis in these patients. We studied the response of chemokines related to early atherosclerotic processes during an oral unsaturated fat load test (OFLT) in patients with heterozygous FH and compared this response to normolipidemic and normoglycemic subjects.Blood samples were taken from 12 FH patients and 20 healthy controls with a similar age, gender distribution, and body mass index. Plasma chemokine levels were determined in both groups in a fasting state and at 2, 4, 6, and 8 h after an OFLT using human cytokine m…

0301 basic medicineAdultMaleChemokinemedicine.medical_specialtyAdolescentmedicine.medical_treatmentFamilial hypercholesterolemia030204 cardiovascular system & hematologyBody Mass IndexHyperlipoproteinemia Type II03 medical and health scienceschemistry.chemical_compoundYoung Adult0302 clinical medicineDietary Fats UnsaturatedInternal medicineMedicineHumansHyperlipoproteinemia Type IIAgedbiologybusiness.industryUnsaturated fatCase-control studyGeneral MedicineFastingMiddle Agedmedicine.diseaseAtherosclerosisPostprandial PeriodHealthy Volunteers030104 developmental biologyEndocrinologyCytokinePostprandialchemistryCase-Control Studiesbiology.proteinFemaleChemokinesbusinessBody mass indexArchives of medical research
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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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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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Why continued lipoprotein apheresis is vital for homozygous familial hypercholesterolemia patients with COVID-19

2021

2019-20 coronavirus outbreakCoronavirus disease 2019 (COVID-19)LipoproteinsEndocrinology Diabetes and MetabolismSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2)Familial hypercholesterolemia030204 cardiovascular system & hematologyHyperlipoproteinemia Type II03 medical and health sciences0302 clinical medicinePandemicInternal MedicinemedicineHumansHyperlipoproteinemia Type IILife StylePandemicsLetter to the Editor030304 developmental biology0303 health sciencesNutrition and DieteticsSARS-CoV-2Life stylebusiness.industryHomozygoteCOVID-19medicine.diseaseImmunologyBlood Component RemovalCardiology and Cardiovascular MedicinebusinessLipoprotein apheresisJournal of Clinical Lipidology
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Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features

2020

Abstract Background and aims Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely elevated plasma levels of low density lipoprotein cholesterol (LDL-C) and high risk of premature atherosclerotic cardiovascular disease (ASCVD). HoFH is caused by pathogenic variants in several genes, such as LDLR, APOB and PCSK9, responsible for autosomal dominant hypercholesterolemia (ADH), and LDLRAP1 responsible for autosomal recessive hypercholesterolemia (ARH). Aim of this study was the review of the clinical and molecular features of patients with HoFH identified in Italy from 1989 to 2019. Methods Data were collected from lipid clinics and laboratories, …

Adult0301 basic medicinemedicine.medical_specialtyCandidate geneCandidate geneGenotype-phenotype correlationApolipoprotein BCandidate genes; Genotype-phenotype correlations; Homozygous familial hypercholesterolemia; Pathogenic variantsHomozygous familial hypercholesterolemiaGenotype-phenotype correlationsFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosityCandidate genesHyperlipoproteinemia Type II03 medical and health sciences0302 clinical medicineInternal medicinemedicineHumansbiologybusiness.industryPCSK9HomozygoteGenetic disorderPathogenic variantsCandidate genes; Genotype-phenotype correlations; Homozygous familial hypercholesterolemia; Pathogenic variants;medicine.diseasePhenotype030104 developmental biologyEndocrinologyItalyReceptors LDLAutosomal Recessive HypercholesterolemiaMutationLDL receptorbiology.proteinlipids (amino acids peptides and proteins)Proprotein Convertase 9Cardiology and Cardiovascular Medicinebusiness
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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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Lomitapide affects HDL composition and function

2016

Abstract Background Lomitapide reduces low-density lipoprotein-cholesterol (LDL-C) but also high-density lipoprotein-cholesterol (HDL-C) levels. The latter may reduce the clinical efficacy of lomitapide. We investigated the effect of lomitapide on HDL-C levels and on cholesterol efflux capacity (CEC) of HDL in patients with homozygous familial hypercholesterolemia (HoFH). Methods and results Four HoFH patients were treated with increasing dosages of lomitapide. Lomitapide decreased LDL-C (range −34 to −89%). Total HDL-C levels decreased (range −16 to −34%) with a shift to buoyant HDL. ABCA1-mediated CEC decreased in all patients (range −39 to −99%). The changes of total, ABCG1- and SR-BI-me…

AdultMale0301 basic medicinemedicine.medical_specialtySettore MED/09 - Medicina InternaHDLHomozygous familial hypercholesterolemiaFamilial hypercholesterolemia030204 cardiovascular system & hematologyHyperlipoproteinemia Type IIYoung Adult03 medical and health scienceschemistry.chemical_compound0302 clinical medicineInternal medicineHumansMedicineIn patientClinical efficacyHyperlipoproteinemia Type IICholesterolbusiness.industryCholesterol HDLHomozygotenutritional and metabolic diseasesCholesterol LDLCholesterol efflux capacityAtherosclerosismedicine.diseaseCholesterol lowering drugsLomitapideLomitapideCholesterolPhenotypeTreatment Outcome030104 developmental biologyEndocrinologychemistryBenzimidazolesFemalelipids (amino acids peptides and proteins)Composition (visual arts)Cholesterol lowering drugHydroxymethylglutaryl-CoA Reductase InhibitorsLipoproteins HDLCardiology and Cardiovascular MedicinebusinessATP Binding Cassette Transporter 1Atherosclerosis
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Homozygous familial hypercholesterolemia with severe involvement of the aortic valve—A sibling‐controlled case study on the efficacy of lipoprotein a…

2020

Background Homozygous familial hypercholesterolemia (hoFH) can cause severe atherosclerotic cardiovascular disease (ASCVD) in early infancy. Diagnosis and initiation of effective lipid-lowering therapy (LLT) are recommended as early as possible to prevent ASCVD-related morbidity and mortality. Methods The clinical courses of a pair of siblings with an identical hoFH genotype, who exhibited major similarities of their clinical phenotype were analyzed in a case-control fashion including the family. Results The older sibling was diagnosed with hoFH at the age of 4. Untreated LDL-cholesterol (LDL-C) was 17 mmol/L (660 mg/dL). LLT including lipoprotein apheresis (LA) was initiated and has been s…

AdultMaleAortic valvemedicine.medical_specialtyGenotypeBiopsyLipoproteinsFamilial hypercholesterolemia030204 cardiovascular system & hematologyHyperlipoproteinemia Type II03 medical and health scienceschemistry.chemical_compound0302 clinical medicineEzetimibeInternal medicineXanthomatosisHumansMedicineSiblingChildAortaRetrospective StudiesFamily Healthbusiness.industryCholesterolSiblingsPCSK9HomozygoteMechanical Aortic ValveCholesterol LDLHematologyGeneral Medicinemedicine.diseaseLipidsPhenotypemedicine.anatomical_structurechemistryEchocardiographyAortic ValveCase-Control StudiesChild PreschoolAortic valve stenosisBlood Component RemovalFemalelipids (amino acids peptides and proteins)Proprotein Convertase 9business030215 immunologymedicine.drugJournal of Clinical Apheresis
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Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.

2011

Abstract Background Autosomal dominant hypercholesterolemias (ADHs) are characterised by increased plasma levels of total and LDL cholesterol, predisposing to premature atherosclerosis. ADHs comprise several diseases with undistinguishable phenotype, caused by mutations in different genes: LDLR, APOB and PCSK9. Genetic studies are usually performed in patients with altered cholesterol levels. However, some persons carrying pathogenic mutations are normocholesterolemic and there are no further studies about this subject. We have studied the frequency of families and individuals carrying ADH mutations who do not present the disease in Spanish population. Methods We have analysed genes known t…

AdultMaleApolipoprotein BAdolescentFamilial hypercholesterolemiaBiologymedicine.disease_causeHyperlipoproteinemia Type IIChlorocebus aethiopsmedicineAnimalsHumansGenetic TestingChildGeneGenetic testingAgedApolipoproteins BGeneticsFamily HealthMutationmedicine.diagnostic_testurogenital systemPCSK9Serine EndopeptidasesCholesterol LDLSequence Analysis DNAMiddle Agedmedicine.diseasePenetrancePhenotypePedigreePhenotypeMutagenesisSpainApolipoprotein B-100COS CellsMutationbiology.proteinFemaleProprotein ConvertasesProprotein Convertase 9Cardiology and Cardiovascular Medicinehormones hormone substitutes and hormone antagonistsAtherosclerosis
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Health literacy in familial hypercholesterolemia: A cross-national study.

2018

Background High rates of inadequate health literacy are associated with maladaptive health outcomes in chronic disease including increased mortality and morbidity rates, poor treatment adherence and poor health. Adequate health literacy may be an important factor in the effective treatment and management of familial hypercholesterolemia, and may also be implicated in genetic screening for familial hypercholesterolemia among index cases. The present study examined the prevalence and predictors of health literacy in familial hypercholesterolemia patients attending clinics in seven countries. Design Cross-sectional survey. Methods Consecutive FH patients attending clinics in Australia, Brazil,…

AdultMaleHealth Knowledge Attitudes PracticeAsiaEpidemiologyHealth literacyFamilial hypercholesterolemia030204 cardiovascular system & hematologyHyperlipoproteinemia Type II03 medical and health sciences0302 clinical medicineAsian PeopleEnvironmental healthSurveys and QuestionnairesInternal MedicineMedicineEffective treatmentHumans030212 general & internal medicineta315health disparitiesAgedfamilial hypercholesterolemiabusiness.industrydyslipidemiaAge FactorsAustraliata3141General Medicinegenetic screeningMiddle Agedmedicine.diseaseHealth equityUnited KingdomHealth LiteracyChronic diseaseCross-Sectional StudiesIncomeHousehold incomeFemaleMETABOLISMObusinessCardiology and Cardiovascular Medicinehealth literacyDyslipidemiaCross nationalEuropean journal of preventive cardiology
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