0000000000715453

AUTHOR

Alberto Zambon

showing 12 related works from this author

Familial hypobetalipoproteinemia: Analysis by next generation sequencing and identification of a novel frameshift mutation in the apoB gene

2017

GeneticsNutrition and DieteticsApob geneEndocrinology Diabetes and MetabolismFamilial HypobetalipoproteinemiaMedicine (miscellaneous)Identification (biology)BiologyCardiology and Cardiovascular MedicineDNA sequencingFrameshift mutationNutrition, Metabolism and Cardiovascular Diseases
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“European Panel on Low Density Lipoprotein (LDL) Subclasses”: A Statement on the Pathophysiology, Atherogenicity and Clinical S…

2011

Aim of the present Consensus Statement is to provide a comprehensive and up to-date document on the pathophysiology, atherogenicity and clinical significance of low density lipoproteins (LDL) subclasses. We sub-divided our Statement in 2 sections: section I discusses the pathophysiology, atherogenicity and measurement issues, while section II is focused on the effects of drugs and lifestlyle modifications. Suggestions for future research in the field are highlighted at the end of section II. Each section includes Conclusions.

Pharmacologybusiness.industryStatement (logic)Bioinformaticschemistry.chemical_compoundFamilial combined hyperlipidemiachemistryLow-density lipoproteinImmunologyLow densityMedicineClinical significanceCardiology and Cardiovascular MedicinebusinessCurrent Vascular Pharmacology
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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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Practical guidance for combination lipid-modifying therapy in high- and very-high-risk patients: A statement from a European Atherosclerosis Society …

2021

International audience; Background and aimsThis European Atherosclerosis Society (EAS) Task Force provides practical guidance for combination therapy for elevated low-density lipoprotein cholesterol (LDL-C) and/or triglycerides (TG) in high-risk and very-high-risk patients.MethodsEvidence-based review.ResultsStatin-ezetimibe combination treatment is the first choice for managing elevated LDL-C and should be given upfront in very-high-risk patients with high LDL-C unlikely to reach goal with a statin, and in primary prevention familial hypercholesterolaemia patients. A proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor may be added if LDL-C levels remain high. In high and very-h…

0301 basic medicinemedicine.medical_specialtyStatinSettore MED/09 - Medicina InternaCombination therapymedicine.drug_classHigh-risk2019 ESC/EAS Dyslipidaemia GuidelineLipid goal030204 cardiovascular system & hematologyTriglyceride03 medical and health sciences0302 clinical medicineCombined treatmentcardiovascular diseaseInternal medicinemedicineHumanstriglycerides2019 ESC/EAS Dyslipidaemia Guidelines; combination treatment; LDL cholesterol; triglycerides; lipid goals; high-risk; cardiovascular diseaselipid goalsbusiness.industryTask forceAnticholesteremic AgentsPCSK9Cholesterol LDL[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismAtherosclerosis2019 ESC/EAS Dyslipidaemia Guidelines3. Good health030104 developmental biologyDiabetes Mellitus Type 2Combination treatmentAtherosclerosiLDL cholesterolEuropean atherosclerosis societyKexinlipids (amino acids peptides and proteins)Proprotein Convertase 9Hydroxymethylglutaryl-CoA Reductase InhibitorsCardiology and Cardiovascular MedicinebusinessVery high risk
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Autosomal Recessive Hypercholesterolemia

2018

Abstract Background Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data for clinical management and cardiovascular outcomes in ARH. Objectives Evaluation of changes in lipid management, achievement of low-density lipoprotein cholesterol (LDL-C) goals and cardiovascular outcomes in ARH. Methods Published ARH cases were identified by electronic search. All corresponding authors and physicians known to treat these patients were asked to provide follow-up information, using a standardized protocol. Results We collected data for 52 patients (28 females, 24 males; 31.1 ± 17.1 years…

0301 basic medicinemedicine.medical_specialtyStatinAtherosclerotic cardiovascular diseasebusiness.industrymedicine.drug_class030204 cardiovascular system & hematologyLomitapide03 medical and health scienceschemistry.chemical_compound030104 developmental biology0302 clinical medicineEzetimibechemistryAutosomal Recessive HypercholesterolemiaInternal medicinemedicineEffective treatmentlipids (amino acids peptides and proteins)In patientCardiology and Cardiovascular MedicinebusinessCardiovascular outcomesmedicine.drugJournal of the American College of Cardiology
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“European Panel On Low Density Lipoprotein (LDL) Subclasses”: A Statement on the Pathophysiology, Atherogenicity and Clinical S…

2011

PharmacologyExecutive summaryLife styleStatement (logic)business.industryMEDLINEBioinformaticsPathophysiologychemistry.chemical_compoundchemistryLow-density lipoproteinMedicineClinical significanceCardiology and Cardiovascular MedicinebusinessCurrent Vascular Pharmacology
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Lomitapide does not alter PCSK9 and Lp(a) levels in homozygous familial hypercholesterolemia patients: analysis on cytokines and lipid profile

2021

Abstract Lomitapide, a drug for the treatment of homozygous familial hypercholesterolemia patients, reduced total and LDL cholesterol but no significant changes were observed on PCSK9 and Lp(a) plasma levels. Some changes of inflammatory mediators were also observed, including hsCRP, which may suggest an anti-inflammatory effect.

Drugmedicine.medical_specialtymedia_common.quotation_subjectFamilial hypercholesterolemiaPCSK9chemistry.chemical_compoundInternal medicineLomitapide Lipoprotein (a) PCSK9 Familial HypercholesterolemiaLipoprotein (a)Internal MedicinemedicineDiseases of the circulatory (Cardiovascular) systemFamilial Hypercholesterolemiaskin and connective tissue diseasesmedia_commonLdl cholesterolmedicine.diagnostic_testbusiness.industryPCSK9nutritional and metabolic diseasesPlasma levelsmedicine.diseaseLomitapideLomitapidelp(a)EndocrinologychemistryRC666-701pcsk9.lipids (amino acids peptides and proteins)sense organsCardiology and Cardiovascular MedicineLipid profilebusiness
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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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Efficacy and safety of lomitapide in familial chylomicronaemia syndrome

2022

Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disorder, resulting in elevated triglycerides (TGs), abdominal pain and pancreatitis. Treatment options are limited. Lomitapide, a microsomal triglyceride transfer protein inhibitor, is approved for the treatment of homozygous familial hypercholesterolaemia. Whether its therapeutic use may be extended to FCS remains unknown. The aim of this study was to evaluate the efficacy and safety of lomitapide in adult patients with FCS.The open-label, single-arm 'LOCHNES' study of lomitapide in FCS enrolled patients18 years with genetically confirmed FCS, elevated fasting TG ≥ 750 mg/dL and history of pancreatitis. Patients were a…

AdultPancreatitiSettore MED/09 - Medicina InternaTriglycerideBenzimidazoleLomitapideAbdominal PainPancreatitisHyperlipoproteinemia Type I.HumansBenzimidazolesHyperlipoproteinemia Type ICardiology and Cardiovascular MedicineTriglyceridesFamilial chylomicronaemia syndromeHuman
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Autosomal Recessive Hypercholesterolemia Long-Term Cardiovascular Outcomes

2017

BACKGROUND Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data for clinical management and cardiovascular outcomes in ARH. OBJECTIVES Evaluation of changes in lipid management, achievement of low-density lipoprotein cholesterol (LDL-C) goals and cardiovascular outcomes in ARH. METHODS Published ARH cases were identified by electronic search. All corresponding authors and physicians known to treat these patients were asked to provide follow-up information, using a standardized protocol. RESULTS We collected data for 52 patients (28 females, 24 males; 31.1 +/- 17.1 years of age…

AdultMaleTime FactorsSettore MED/09 - Medicina InternaAdolescentatherosclerotic cardiovascular disease; autosomal recessive hypercholesterolemia; follow-up; lipid-lowering therapies; retrospective analysisHypercholesterolemiaretrospective analysiatherosclerotic cardiovascular disease; autosomal recessive hypercholesterolemia; follow-up; lipid-lowering therapies; retrospective analysis; Cardiology and Cardiovascular MedicineCohort StudiesYoung Adultautosomal recessive hypercholesterolemialipid-lowering therapiesfollow-upHumansLongitudinal StudiesChildlipid-lowering therapiesAgedRetrospective Studieslipid-lowering therapieatherosclerotic cardiovascular diseaseCholesterol LDLMiddle Agedretrospective analysisTreatment OutcomeCardiovascular DiseasesChild PreschoolFemaleCardiology and Cardiovascular MedicineFollow-Up Studies
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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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