0000000000429803

AUTHOR

Della Cole

showing 2 related works from this author

Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and …

2016

WOS: 000393031600001

PREDICTIONInternational CooperationPoolingInformation Storage and RetrievalDisease030204 cardiovascular system & hematologyGUIDELINESDoenças Cardio e Cérebro-vascularesLDL-Cholesterol0302 clinical medicineCardiovascular DiseaseMedicineData MiningCardiac and Cardiovascular Systems030212 general & internal medicineRegistriesDisease management (health)Cooperative BehaviorGENERAL-POPULATIONRISKFamilial hypercholesterolaemia ; LDL-Cholesterol ; Cardiovascular disease ; RegistryKardiologiCONSENSUS PANELDelivery of Health Care IntegratedGeneral MedicineOrvostudományokCardiovascular diseasePREVALENCE3. Good healthTreatment OutcomeCARDIOVASCULAR-DISEASEResearch DesignFamilial hypercholesterolaemiaCardiology and Cardiovascular MedicineRegistrymedicine.medical_specialtyBest practiceKlinikai orvostudományokAccess to InformationHyperlipoproteinemia Type II03 medical and health sciencesEUROPEAN ATHEROSCLEROSIS SOCIETYInternal MedicineHumansOrganizational ObjectivesBespokeStudy DesignGUIDANCEbusiness.industryPublic healthStudy designProfessional Practice GapsData sharingClinical trialCardiovascular System & Hematology3121 General medicine internal medicine and other clinical medicineFamily medicineFamilial hypercholesterolaemia; LDL-Cholesterol; Cardiovascular disease; Registry; Study design; Familial Hypercholesterolaemia Studies CollaborationFamilial Hypercholesterolaemia Studies CollaborationFamilial HypercholesterolaemiaINDIVIDUAL PARTICIPANT DATAbusiness
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Familial hypercholesterolaemia: A global call to arms

2015

Familial Hypercholesterolaemia (FH) is the commonest autosomal co-dominantly inherited condition affecting man. It is caused by mutation in one of three genes, encoding the low-density lipoprotein (LDL) receptor, or the gene for apolipoprotein B (which is the major protein component of the LDL particle), or in the gene coding for PCSK9 (which is involved in the degradation of the LDL-receptor during its cellular recycling). These mutations result in impaired LDL metabolism, leading to life-long elevations in LDL-cholesterol (LDL-C) and development of premature atherosclerotic cardiovascular disease (ASCVD) [1], [2] and [3]. If left untreated, the relative risk of premature coronary artery d…

PathologyApolipoprotein BDisease030204 cardiovascular system & hematologymedicine.disease_causeGlobal HealthDISEASEDoenças Cardio e Cérebro-vasculares0302 clinical medicineHyperlipoproteinemia Type IISocieties MedicalRISK0303 health sciencesMutationbiology3. Good healthPREVALENCEEuropelipids (amino acids peptides and proteins)Cardiology and Cardiovascular MedicineFamilial hypercholesterolaemiaLife Sciences & Biomedicinemedicine.medical_specialtyHeterozygote1102 Cardiovascular Medicine And HaematologyHyperlipoproteinemia Type II03 medical and health sciencesInternal medicinemedicineHumans030304 developmental biologyScience & Technologybusiness.industryGUIDANCEPCSK9Heterozygote advantage1103 Clinical SciencesEndocrinologyPeripheral Vascular DiseaseCardiovascular System & HematologyReceptors LDLRECEPTORES DE LIPOPROTEÍNASRelative riskMutationbiology.proteinCardiovascular System & CardiologyFamilial HypercholesterolaemiabusinessCLINICIANLipoprotein
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