6533b86ffe1ef96bd12ce9c1

RESEARCH PRODUCT

Worldwide experience of homozygous familial hypercholesterolaemia:retrospective cohort study

Tycho R TrompMerel L HartgersG Kees HovinghAntonio J. Vallejo-vazKausik K RayHandrean SoranTomas FreibergerStefano BertoliniMariko Harada-shibaDirk J BlomFrederick J RaalMarina CuchelTycho R. TrompMerel L. HartgersG. Kees HovinghAntonio J. Vallejo-vazKausik K. RayHandrean SoranTomas FreibergerStefano A. BertoliniMariko Harada-shibaJing PangGerald F. WattsSusanne Greber-platzerMartin MäserThomas M. StulnigChristoph F. EbenbichlerKhalid Bin ThaniDavid CassimanOlivier S. DescampsDaisy RymenPeter WittersRaul D. SantosLiam R. BrunhamGordon A. FrancisJacques GenestRobert A. HegeleBrooke A. KennedyIsabelle RuelMark H. ShermanLong JiangLuya WangŽEljko ReinerVladimir BlahaRichard CeskaJana DvorakovaLubomir DlouhyPavel HorakVladimir SoskaLukas TichyRobin UrbanekHelena VaverkovaMichal VrablikStanislav ZemekLukas ZlatohlavekSameh EmilTarek NaguibAshraf RedaSophie BéliardEric BruckertAntonio GalloMoses S. ElisafGenovefa KolovouHofit CohenRonen DurstEldad J. DannAvishay ElisOsama HusseinEran LeitersdorfDaniel SchurrNitika SetiaIshwar C. VermaMohammed D. AlareedhMutaz Al-khnifsawiAli F. Abdalsahib Al-zamiliSabah H. RhadiFoaad K. ShagheeMarcello ArcaMaurizio AvernaAndrea BartuliMarco BucciPaola S. BuonuomoPaolo CalabròSebastiano CalandraManuela CasulaAlberico L. CatapanoAngelo B. CefalùArrigo F.g. CiceroSergio D'addatoLaura D'erasmoAlessia Di CostanzoTommaso FasanoMarta GazzottiAntonina GiammancoGabriella IannuzzoAnastasia IbbaEmanuele A. NegriAndrea PastaChiara PavanelloLivia PisciottaClaudio RabacchiCarlo RipoliTiziana SampietroFrancesco SbranaFulvio SileoPatrizia SuppressaPatrizia TarugiChiara TrentiMaria G. ZentiMika HoriMahmoud H. AyeshSami T. AzarFadi F. BitarAkl C. FahedElie M. MoubarakGeorges NemerHapizah Md NawawiRamón MadrizRoopa MehtaArjen J. CupidoJoep C. DefescheM. Doortje ReijmanJeanine E. Roeters-van LennepErik S.g. StroesAlbert WiegmanLinda ZuurbierKhalid Al-wailiFouzia SadiqKrzysztof ChlebusMafalda BourbonIsabel M. GasparKatarina S. LalicMarat V. EzhovAndrey V. SusekovUrh GroseljMin-ji CharngWeerapan KhovidhunkitMelih AktanBulent B. AltunkeserSinan DemirciogluMelis KoseCumali GokceOsman IlhanMeral KayikciogluLeyla G. KaynarIrfan KukuErdal KurtogluHarika OkutanOsman I. OzcebeZafer PekkolaySaim SagOsman Z. SalciogluAhmet TemizhanMustafa YenercagMehmet YilmazHamiyet Yilmaz YasarOlena MitchenkoAlexander R.m. LyonsChristophe A.t. StevensJulie A. BrothersLisa C. HudginsChristina NguyenRano AlievaAleksandr ShekDoan-loi DoNgoc-thanh KimHong-an LeThanh-tung LeMai-ngoc T. NguyenThanh-huong TruongDirk J. BlomFrederick J. RaalMarina Cuchel

subject

AdultMaleHomozygous Familial HypercholesterolemiaAdolescentretrospective studyCHILDRENDoenças Cardio e Cérebro-vascularesCohort StudiesYoung AdultMedicine General & InternalGeneral & Internal MedicineCardiovascular DiseaseHumansRegistriesLIPOPROTEIN-APHERESISChild11 Medical and Health SciencesRetrospective StudiesHomozygous Familial Hypercholesterolaemia International Clinical CollaboratorsScience & TechnologyGUIDANCEclinical characteristicEVOLOCUMABHomozygous familial hypercholesterolemia; Worldwide; Therapies; Cardiovascular diseaseGeneral MedicineCARECardiovascular diseaseOPEN-LABELEFFICACYINSIGHTSTherapiesChild PreschooloutcomeFemalegeneticFamilial HypercholesterolaemiaLife Sciences & BiomedicineWorldwide

description

[Background]: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance about its management and prognosis stems from small studies, mostly from high-income countries. The objective of this study was to assess the clinical and genetic characteristics, as well as the impact, of current practice on health outcomes of HoFH patients globally.

10.1016/s0140-6736(21)02001-8https://research.vumc.nl/en/publications/f39e2a3e-cdca-435e-8d43-781bf5d3735d