Search results for "Homozygous hypercholesterolemia"

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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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Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retr…

2021

Abstract Background Homozygous familial hypercholesterolemia (HoFH) is a rare life-threatening condition that represents a therapeutic challenge. The vast majority of HoFH patients fail to achieve LDL-C targets when treated with the standard protocol, which associates maximally tolerated dose of lipid-lowering medications with lipoprotein apheresis (LA). Lomitapide is an emerging therapy in HoFH, but its place in the treatment algorithm is disputed because a comparison of its long-term efficacy versus LA in reducing LDL-C burden is not available. We assessed changes in long-term LDL-C burden and goals achievement in two independent HoFH patients’ cohorts, one treated with lomitapide in Ita…

medicine.medical_specialtySettore MED/09 - Medicina Interna[SDV]Life Sciences [q-bio]LipoproteinsGenetic diseaseTherapeuticsFamilial hypercholesterolemiaDiseaseLipoprotein apheresiLDLHyperlipoproteinemia Type IIchemistry.chemical_compoundLipoprotein apheresisRetrospective surveyInternal medicineCholesterol burden; Genetic disease; Homozygous hypercholesterolemia; LDL; Lipoprotein apheresis; Lomitapide; Therapeutics; Benzimidazoles; Homozygote; Humans; Lipoproteins; Retrospective Studies; Anticholesteremic Agents; Blood Component Removal; Hyperlipoproteinemia Type IImedicineHumansPharmacology (medical)Genetics (clinical)Retrospective Studiesmedicine.diagnostic_testbusiness.industryResearchAnticholesteremic AgentsHomozygous hypercholesterolemiaHomozygoteRGeneral Medicinemedicine.diseaseLomitapideLomitapidecholesterol burden; genetic disease; homozygous hypercholesterolemia; LDL; lipoprotein apheresis; lomitapide; therapeuticsCholesterol burdenchemistryCohortBlood Component RemovalMedicineTherapeutics.BenzimidazolesLipid profilebusinessLipoprotein apheresisCross nationalOrphanet Journal of Rare Diseases
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