Search results for "familial hypercholesterolemia"

showing 10 items of 117 documents

Long-Term Efficacy and Safety of the Microsomal Triglyceride Transfer Protein Inhibitor Lomitapide in Patients With Homozygous Familial Hypercholeste…

2017

Homozygous familial hypercholesterolemia is a genetic disorder characterized by low-density lipoprotein (LDL)-receptor dysfunction, markedly elevated levels of LDL-cholesterol (LDL-C) and premature atherosclerosis. Patients are often poorly responsive to conventional lipid-lowering therapies that upregulate LDL-receptor expression.1 Lomitapide inhibits microsomal triglyceride transfer protein, which lipidates nascent apolipoprotein (apo)B-containing lipoproteins. In a pivotal 78-week open-label trial, lomitapide, titrated to the maximal tolerable dose, decreased LDL-C by 50% at the end of the efficacy phase (week 26) in patients with homozygous familial hypercholesterolemia.2 The principal …

AdultMalemedicine.medical_specialtySettore MED/09 - Medicina InternaApolipoprotein BSocio-culturaleFamilial hypercholesterolemia030204 cardiovascular system & hematologyGastroenterologyMicrosomal triglyceride transfer proteinLDLTimeSudden cardiac deathHyperlipoproteinemia Type II03 medical and health scienceschemistry.chemical_compound0302 clinical medicinePhysiology (medical)Internal medicinemedicineHumans030212 general & internal medicineAdverse effectlomitapidebiologybusiness.industryCholesterolAnticholesteremic AgentsCholesterol LDLlomitapide; Adult; Anticholesteremic Agents; Benzimidazoles; Carrier Proteins; Cholesterol LDL; Female; Humans; Hyperlipoproteinemia Type II; Male; Timemedicine.diseaseLomitapideCholesterolEndocrinologychemistrybiology.proteinBenzimidazolesFemalelipids (amino acids peptides and proteins)lomitapide; Cardiology and Cardiovascular Medicine; Physiology (medical)Carrier ProteinsCardiology and Cardiovascular MedicinebusinessLipoproteinCirculation
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Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent

2006

Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by mutations in the gene coding for the low density lipoprotein receptor (LDL-R). It is characterized by a high concentration of low density lipoprotein (LDL), which frequently gives rise to premature coronary artery disease. We studied the probands of five FH Sicilian families with 'definite' FH and one proband of Paraguayan descent with homozygous FH who has been treated with an effective living-donor liver transplantation. In order to seek the molecular defect in these six families, we used direct sequencing to define the molecular defects of the LDL-R gene responsible for the disease. We described three…

AdultProbandhypercholesterolemia LDL receptor gene mutation analysis direct sequencing splicing living-donor transplantationSettore MED/09 - Medicina InternaDNA Mutational AnalysisDirect sequencingHypercholesterolemiaFamilial hypercholesterolemiaBiologyGene mutationSplicingmedicine.disease_causeFrameshift mutationHyperlipoproteinemia Type IIExonGeneticsmedicineHumansMissense mutationRNA MessengerChildSicilyCells CulturedLiving-donor transplantationLDL receptor geneGeneticsMutationIntronExonsGeneral MedicineMiddle Agedmedicine.diseaseLipidsMolecular biologyPedigreeDirect sequencing; Hypercholesterolemia; LDL receptor gene; Living-donor transplantation; Mutation analysis; SplicingMutation analysisReceptors LDLParaguayChild PreschoolMutationBiological Assay
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Genetic polymorphisms affecting the phenotypic expression in familial hypercholesterolemia

2004

The clinical expression of heterozygous familial hypercholesterolemia (FH) is highly variable even in patients carrying the same LDL receptor (LDL-R) gene mutation. This variability might be due to environmental factors as well as to modifying genes affecting lipoprotein metabolism. We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations. We found a significant and independent effect of the following polymorphisms on: (i) plasma LDL-C (Apo E, MTP and Apo B); (ii) plasma HDL-C (HL, …

Apolipoprotein EMaleSettore MED/09 - Medicina InternaApolipoprotein BFamilial hypercholesterolemiaGene mutationPolymerase Chain ReactionCoronary artery diseasecoronary artery disease; familial hypercholesterolemia; genetic polymorphisms; plasma lipidsCohort Studieschemistry.chemical_compoundGenotypePlasma lipidsOdds RatiobiologyFamilial hypercholesterolemia Plasma lipids Genetic polymorphisms Coronary artery diseaseIncidenceMiddle AgedPhenotypelipids (amino acids peptides and proteins)FemaleCardiology and Cardiovascular MedicineAdultmedicine.medical_specialtyMolecular Sequence DataFamilial hypercholesterolemiaPlasma lipidGenetic polymorphismsRisk AssessmentHyperlipoproteinemia Type IIFamilial hypercholesterolemia; Plasma lipids; Genetic polymorphisms; Coronary artery diseasePredictive Value of TestsInternal medicinemedicineConfidence IntervalsHumansGenetic Predisposition to DiseaseGenetic polymorphismPolymorphism GeneticBase SequenceCholesterolCholesterol HDLCase-control studyCholesterol LDLmedicine.diseaseEndocrinologyApolipoproteinschemistrySettore MED/03 - Genetica MedicaGene Expression RegulationReceptors LDLCase-Control StudiesLDL receptorbiology.protein
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One-year atorvastatin treatment in hypercholesterolemic patients with or without carotid artery disease.

2006

Aim. Statins are the drugs of choice in heterozygous familial hypercholesterolemia (FH), which has a high risk of premature cardiovascular events including myocardial infarction, stroke, and surgical revascularization. Methods. A 1-year open-label study was conducted to test the efficacy and tolerability of Atorvastatin titrated to the target, in proven FH patients and to evaluate certain inflammatory parameters. One hundred and two FH patients (44 men and 58 women; mean age 58.7±3.6 years) were included in the study. After evaluation using the B-mode duplex scanning system of extracranial carotid arteries, the patients were divided into groups: Group 1 (15 men, 25 women) with carotid plaqu…

Blood PlateletsCarotid Artery DiseasesMaleTime FactorsCarotid Artery CommonHyperlipoproteinemia Type IIAtorvastatinHumansPyrrolesTriglyceridesApolipoproteins BApolipoprotein A-IAnticholesteremic AgentsCholesterol HDLFibrinogenCholesterol LDLMiddle Agedhs-CRPC-Reactive ProteinTreatment OutcomeHeptanoic AcidsPatient ComplianceFemaleHeterozygous familial hypercholesterolemiaHydroxymethylglutaryl-CoA Reductase InhibitorsCarotid arteryInternational angiology : a journal of the International Union of Angiology
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Triglyceride-rich lipoproteins and their remnants: metabolic insights, role in atherosclerotic cardiovascular disease, and emerging therapeutic strat…

2021

Abstract Recent advances in human genetics, together with a large body of epidemiologic, preclinical, and clinical trial results, provide strong support for a causal association between triglycerides (TG), TG-rich lipoproteins (TRL), and TRL remnants, and increased risk of myocardial infarction, ischaemic stroke, and aortic valve stenosis. These data also indicate that TRL and their remnants may contribute significantly to residual cardiovascular risk in patients on optimized low-density lipoprotein (LDL)-lowering therapy. This statement critically appraises current understanding of the structure, function, and metabolism of TRL, and their pathophysiological role in atherosclerotic cardiova…

CHOLESTERYL ESTER TRANSFERTO-MODERATE HYPERTRIGLYCERIDEMIALipoprotein remnants030204 cardiovascular system & hematologyBioinformaticsResidual riskBrain Ischemiachemistry.chemical_compoundVoeding Metabolisme en Genomica0302 clinical medicineIschaemic strokeAcademicSubjects/MED00200Myocardial infarctionLOW-GRADE INFLAMMATIONALL-CAUSE MORTALITY[SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism0303 health sciencesAtherosclerotic cardiovascular diseasedigestive oral and skin physiology[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismCardiovascular diseaseMetabolism and Genomics3. Good healthStrokeLOW-DENSITY LIPOPROTEINSCardiovascular DiseasesMetabolisme en GenomicaCORONARY-ARTERY-DISEASENutrition Metabolism and GenomicsCardiology and Cardiovascular MedicineB-CONTAINING LIPOPROTEINSLipoproteinsTriglyceride-rich lipoproteinsHEART-DISEASE03 medical and health sciencesSpecial ArticleVoedingmedicineHumansHOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIATriglycerides030304 developmental biologyNutritionVLAGTriglyceridebusiness.industryAPO-Bmedicine.diseaseAtherosclerosisResidual riskIncreased riskchemistry3121 General medicine internal medicine and other clinical medicineEuropean atherosclerosis societybusinessLipoprotein
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Ģimenes anamnēzes raksturojums pacientiem ar primāru hiperlipidēmiju

2018

Tēmas aktualitāte: Ģimenes hiperholesterinēmija (ĢH) ir autosomāli ominant slimība, kas savlaicīgi neatpazīstot un neuzsākot atbilstošu terapiju, var rezultēties agrīnos kardiovaskulāros notikumos. Latvija ir pirmā no Baltijas valstīm, kur funkcionē ĢH reģistrs. Mērķis: Raksturot ģimenes anamnēzes datu pieejamību pacientiem, kas iekļauti LĢRH. Materiāli un metodes: Tika analizēta ģimenes slimības vēstures datu pieejamība, izmantojot LĢHR pacientu anketas. Rezultāti: Līdz 2017. gada oktobrim LĢHR tika iekļauti 356 pacienti, no kuriem 294 (82.6%) bija probandi un 62 ( 17.4%) pirmās pakāpes radinieki. Klīniska ĢH tika diagnosticēta 164 pacientiem (131 probandam un 33 pirmās pakāpes radiniekiem…

Cardiovascular diseasesDutch Lipid Network CriteriaFamilial HypercholesterolemiaMedicīnaacute coronary syndrome
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Polyvascular subclinical atherosclerosis in familial hypercholesterolemia: The role of cholesterol burden and gender

2019

International audience; BACKGROUND AND AIM:Heterozygous familial hypercholesterolemia (HeFH) is a genetic disease characterized by a heterogeneous phenotype. The assessment of cardiovascular (CV) risk is challenging for HeFH. Cholesterol burden (CB) allows to estimate the lifelong exposure to high levels of cholesterol. The aim of this study was to analyze the distribution of subclinical atherosclerosis and the relationship between atherosclerosis and the CB in a sample of HeFH patients, focusing on sex-related differences.METHODS AND RESULTS:154 asymptomatic HeFH subjects underwent coronary-artery-calcium score (CACs) and Doppler ultrasound of carotid and femoral arteries. Yearly lipid pro…

Carotid Artery DiseasesMaleCarotid atherosclerosisPeripheral arterial atherosclerosisTime Factors[SDV]Life Sciences [q-bio]Endocrinology Diabetes and MetabolismMedicine (miscellaneous)Coronary Artery DiseaseDiseaseFamilial hypercholesterolemia030204 cardiovascular system & hematologySeverity of Illness Indexchemistry.chemical_compound0302 clinical medicineRisk FactorsAtherosclerosis; Calcium score; Cardiovascular disease; Cardiovascular risk; Cholesterol burden; Coronary artery calcium; Familial hypercholesterolemia; Peripheral arterial atherosclerosis; Adult; Aged; Asymptomatic Diseases; Biomarkers; Carotid Artery Diseases; Cholesterol; Coronary Artery Disease; Cross-Sectional Studies; Female; Femoral Artery; Genetic Predisposition to Disease; Humans; Hyperlipoproteinemia Type II; Male; Middle Aged; Paris; Peripheral Arterial Disease; Phenotype; Prevalence; Prognosis; Risk Assessment; Risk Factors; Severity of Illness Index; Sex Factors; Time Factors; Young AdultPrevalenceMedicineNutrition and Dietetics[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismMiddle AgedPrognosisCardiovascular diseaseCalcium score3. Good healthFemoral ArteryCholesterol burdenCholesterolPhenotypeAtherosclerosiCardiologyPopulation studyFemalemedicine.symptomCardiology and Cardiovascular MedicineAdultParismedicine.medical_specialtyFamilial hypercholesterolemia030209 endocrinology & metabolismRisk AssessmentAsymptomaticCoronary artery calciumHigh cholesterolHyperlipoproteinemia Type IIPeripheral Arterial DiseaseYoung Adult03 medical and health sciencesSex Factors[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemInternal medicineHumansGenetic Predisposition to DiseaseAgedbusiness.industryCholesterolAtherosclerosismedicine.diseaseCardiovascular riskCross-Sectional StudieschemistrySubclinical atherosclerosisAsymptomatic DiseasesbusinessBiomarkers
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Lp(a): a genetic cause of clinical FH in children

2022

No abstract available

Children.Settore MED/09 - Medicina InternaLp(a)Familial HypercholesterolemiaCardiology and Cardiovascular MedicineEuropean Heart Journal
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Il calcio coronarico è indipendentemente associato alla rigidità arteriosa e al cholesterol burden nei pazienti con ipercolesterolemia familiare

2021

Cholesterol burdenDyslipidemiaCoronary CalciumFamilial HypercholesterolemiaAtherosclerosis
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Characteristics of computed tomography angiography findings of coronary arteries in patients with suspected or established familial hypercholesterole…

2021

KOPSAVILKUMS Nosaukums: Koronāro artēriju datortomogrāfiskās angiogrāfijas atrades raksturojums pacientiem ar iespējamu vai konstatētu Ģimenes Hiperholesterinēmiju. Ievads: Ģimenes hiperholesterīnēmija ir biežākais iemesls pārmantotai dislipidēmijai visā pasaulē. Slimība attīstās nemanāmi, bet pēkšņi var kļūt fatāla. Tāpēc ir svarīgi to diagnosticēt vai izvērtēt bojājumu izteiktību cik agri iespējams, pirmsaterosklerotiskiem kardiovaskulāriem notikumiem.Sķiet, ka šobrīd CT angiogrāfija ir laba metode lai raksturotu izmaiņas koronārajās artērijās ĢH pacientiem. Mērkis: Raksturot aterosklerotiskās izmaiņas ĢH pacientu koronārajās artērijās izmantojot CT angiogrāfija rezultātus. Materiāls un m…

CholesterolDyslipidemiaFamilial HypercholesterolemiaAtherosclerosisMedicīnaLDL
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