Search results for "Primary hypertriglyceridemia"

showing 1 items of 1 documents

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.

2015

Background: Monogenic hypertriglyceridemia (HTG) may result from mutations in some genes which impair the intravascular lipolysis of triglyceride (TG)-rich lipoproteins mediated by the enzyme Lipoprotein lipase (LPL). Mutations in the LPL gene are the most frequent cause of monogenic HTG (familial chylomicronemia) with recessive transmission. Methods: The LPL gene was resequenced in 149 patients with severe HTG (TG>10mmol/L) and 106 patients with moderate HTG (TG>4.5 and <10mmol/L) referred to tertiary Lipid Clinics in Italy. Results: In the group of severe HTG, 26 patients (17.4%) were homozygotes, 9 patients (6%) were compound heterozygotes and 15 patients (10%) were simple heter…

MaleSettore MED/09 - Medicina InternaDNA Mutational AnalysisFamilial chylomicronemia; Gene variants; Lipoprotein lipase; Pancreatitis; Primary hypertriglyceridemiaCompound heterozygositymedicine.disease_causeSeverity of Illness IndexPrimary hypertriglyceridemiaTertiary Care Centerschemistry.chemical_compoundGene FrequencyFamilial chylomicronemia; Gene variants; Lipoprotein lipase; Pancreatitis; Primary hypertriglyceridemia; Cardiology and Cardiovascular MedicineChildLipoprotein lipaseMutationHomozygoteMiddle AgedPhenotypeItalyChild PreschoolFemaleHyperlipoproteinemia Type ICardiology and Cardiovascular MedicineFamilial chylomicronemiaAdultmedicine.medical_specialtyGene variantHeterozygoteAdolescentBiologyGene variantsYoung AdultInternal medicinemedicineLipolysisHumansGenetic Predisposition to DiseaseTriglyceridesAgedPancreatitiTriglycerideHypertriglyceridemiaInfantHeterozygote advantageLipoprotein lipasemedicine.diseaseLipoprotein LipaseEndocrinologychemistryPancreatitisMutationPancreatitisBiomarkersAtherosclerosis
researchProduct