Search results for "Angiopoietin-like 3"

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CLINICAL CHARACTERISTICS AND PLASMA LIPIDS IN SUBJECTS WITH FAMILIAL COMBINED HYPOLIPIDEMIA: A POOLED ANALYSIS

2013

Background. Angiopoietin-like 3 (ANGPTL3) regulates lipoprotein metabolism by modulating extracellular lipases. Loss-of function mutations in ANGPTL3 gene cause familial combined hypolipidemia (FHBL2). The mode of inheritance and hepatic and vascular consequences of FHBL2 have not been fully elucidated. To get further insights on these aspects, we re-evaluated the clinical and the biochemical characteristics of all reported cases of FHBL2. Methods and Results. One hundred fteen FHBL2 individuals carrying 13 different mutations in the ANGPTL3 gene (14 homozygotes, 8 compound heterozygotes and 93 heterozygotes) and 402 controls were considered. Carriers of 2 mutant alleles had undetectable pl…

ANGPTL3 mutations; angiopoietin-like 3; cardiovascular disease; diabetes mellitus; fatty liverSettore MED/09 - Medicina InternaCompound heterozygosityBiochemistryCohort StudiesHypobetalipoproteinemiasEndocrinologyANGPTL3cardiovascular diseaseGenotypeChildLipoproteinclinical characteristicsAged 80 and overbiologydiabetes mellituFatty liverHomozygoteLipoprotein(a)Middle AgedANGPTL3 mutationLipidsCardiovascular Diseasesdiabetes mellitusANGPTL3 Familial combined hypolipidemia LipoproteinAdultmedicine.medical_specialtyHeterozygoteANGPTL3; Familial combined hypolipidemia; clinical characteristicsAdolescentEvinacumabQD415-436Young AdultDiabetes mellitusInternal medicinemedicineHumansANGPTL3 mutationsAlleleFamilial combined hypolipidemiaAgedAngiopoietin-Like Protein 3fatty liverangiopoietin-like 3Cell Biologymedicine.diseaseEndocrinologyAngiopoietin-like ProteinsGene Expression RegulationMutationbiology.proteinPatient-Oriented and Epidemiological ResearchAngiopoietinsLipoproteinLipoprotein(a)
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New Frontiers in the Treatment of Homozygous Familial Hypercholesterolemia.

2021

: Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder. The most common cause is a mutation in both alleles of the gene encoding for the low-density lipoprotein (LDL) receptor, although other causative mutations have been identified. Complications of atherosclerotic cardiovascular disease are common in these patients; therefore, reducing the elevated LDL-cholesterol burden is critical in their management. Conventionally, this is achieved by patients initiating lipid-lowering therapy, but this can present challenges in clinical practice. Fortunately, novel therapeutic strategies have enabled promising innovations in HoFH treatment. This review highlights recent and ongo…

Settore MED/09 - Medicina InternaGenetic enhancementHomozygous familial hypercholesterolemiaFamilial hypercholesterolemiaInclisiranBioinformaticsmedicine.disease_causeBenzimidazolePCSK9Hyperlipoproteinemia Type IIchemistry.chemical_compoundGene therapyAnticholesteremic AgentmedicineAngiopoietin-like 3HumansLow-density lipoprotein cholesterolAlleleAngiopoietin-like 3; Gene therapy; Gene-editing; Homozygous familial hypercholesterolemia; Inclisiran; Lomitapide; Low-density lipoprotein cholesterol; PCSK9MutationGene-editingAtherosclerotic cardiovascular diseasebusiness.industryPCSK9Anticholesteremic AgentsHomozygoteGenetic disorderGeneral MedicineCholesterol LDLmedicine.diseaseLomitapideLomitapidechemistrylipids (amino acids peptides and proteins)BenzimidazolesCardiology and Cardiovascular MedicinebusinessHumanHeart failure clinics
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Statin intolerance: new data and further options for treatment

2021

Purpose of review Hypercholesterolemia is a major risk factor for cardiovascular diseases. Administration of statins represents the cornerstone of the prevention and treatment of cardiovascular disease, with demonstrated long-term safety and efficacy. This review aims to revisit statin intolerance mechanisms, as well as to discuss new data and therapeutic options. Recent findings Although statins are well tolerated, myopathy and other adverse effects are a challenging problem, being the main reason for poor adherence to treatment and failure in lowering cardiovascular risk. Statin intolerance is the subject of ongoing research, as these drugs are widely used. There are alternative options o…

medicine.medical_specialtyStatinDosemedicine.drug_classHypercholesterolemiaDisease030204 cardiovascular system & hematology03 medical and health scienceschemistry.chemical_compound0302 clinical medicineEzetimibeHumansMedicinecardiovascular diseases030212 general & internal medicineRisk factorIntensive care medicineAdverse effectbusiness.industryCholesterolAnticholesteremic Agentsangiopoietin-like 3 protein inhibitors bempedoic acid ezetimibe proprotein convertase subtilisin-kexin type 9 inhibitors statin intolerance Cholesterol LDL Ezetimibe Humans Proprotein Convertase 9 Anticholesteremic Agents Cardiovascular Diseases Hydroxymethylglutaryl-CoA Reductase Inhibitors Hypercholesterolemianutritional and metabolic diseasesCholesterol LDLEzetimibeRegimenchemistryCardiovascular Diseaseslipids (amino acids peptides and proteins)Hydroxymethylglutaryl-CoA Reductase InhibitorsProprotein Convertase 9Cardiology and Cardiovascular Medicinebusinessmedicine.drug
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