0000000000715408

AUTHOR

Giuliana Mombelli

showing 6 related works from this author

Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

2023

: Background Evidence suggests that LPA risk genotypes are a possible contributor to the clinical diagnosis of familial hypercholesterolemia (FH). This study aimed at determining the prevalence of LPA risk variants in adult individuals with FH enrolled in the Italian LIPIGEN (Lipid Transport Disorders Italian Genetic Network) study, with (FH/M+) or without (FH/M-) a causative genetic variant. Methods and Results An lp(a) [lipoprotein(a)] genetic score was calculated by summing the number risk-increasing alleles inherited at rs3798220 and rs10455872 variants. Overall, in the 4.6% of 1695 patients with clinically diagnosed FH, the phenotype was not explained by a monogenic or polygenic cause …

cardiovascular risklipoprotein(a).familial hypercholesterolemia
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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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A subgroup analysis of the ODYSSEY APPRISE study: Safety and efficacy of alirocumab in the Italian cohort.

2022

ODYSSEY APPRISE trial evaluated efficacy and safety of alirocumab in 994 patients with hypercholesterolemia and high CV risk in a real-life setting. The aim of the present report is to detail on the Italian cohort enrolled and treated in the trial.The methodology of the of the multinational, single-arm, Phase 3b open-label ODYSSEY APPRISE (Clinicaltrials.gov: NCT02476006) has been previously reported. 255 Italian patients were enrolled and treated according to the trial protocol. Overall mean exposure to alirocumab was 83.3 ± 27.7 weeks. At week 12, LDL-C decreased by 51.3 ± 23.1% and this reduction was overall maintained for the duration of the study. A similar reduction was observed in pa…

Settore MED/09 - Medicina InternaNutrition and DieteticsLDL-C.Endocrinology Diabetes and MetabolismAnticholesteremic AgentsMedicine (miscellaneous)alirocumabCholesterol LDLAntibodies Monoclonal HumanizedHyperlipoproteinemia Type IIheterozygous familial hypercholesterolemiaTreatment OutcomeItalyHumansheterozygous familial hypercholesterolemia; high cardiovascular risk; alirocumab; LDL-C; Italyhigh cardiovascular riskCardiology and Cardiovascular MedicineLDL-CNutrition, metabolism, and cardiovascular diseases : NMCD
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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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Effects of PCSK9 inhibitors on HDL cholesterol efflux and serum cholesterol loading capacity in familial hypercholesterolemia subjects: a multi-lipid…

2022

Proprotein convertase subtilisin/kexin type 9 (PCSK9), beyond regulating LDL cholesterol (LDL-c) plasma levels, exerts several pleiotropic effects by modulating lipid metabolism in extrahepatic cells such as macrophages. Macrophage cholesterol homeostasis depends on serum lipoprotein functions, including the HDL capacity to promote cell cholesterol efflux (CEC) and the serum capacity to promote cell cholesterol loading (CLC). The aim of this observational study was to investigate the effect of PCSK9 inhibitors (PCSK9-i) treatment on HDL-CEC and serum CLC in patients with familial hypercholesterolemia (FH). 31 genetically confirmed FH patients were recruited. Blood was collected and serum is…

cardiovascular riskSettore MED/09 - Medicina Internafamilial hypercholesterolemiaPCSK9 inhibitors cardiovascular risk cholesterol efflux capacity cholesterol loading capacity familial hypercholesterolemiaPCSK9 inhibitorsSettore BIO/14 - Farmacologiacholesterol loading capacityBiochemistry Genetics and Molecular Biology (miscellaneous)Molecular BiologyBiochemistrycholesterol efflux capacityPCSK9 inhibitors; cardiovascular risk; cholesterol efflux capacity; cholesterol loading capacity; familial hypercholesterolemiaFrontiers in molecular biosciences
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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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