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Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

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dc.contributor.authorTromp, Tycho R.
dc.contributor.authorHartgers, Merel L.
dc.contributor.authorHovingh, G Kees
dc.contributor.authorVallejo-Vaz, Antonio J.
dc.contributor.authorRay, Kausik K.
dc.contributor.authorSoran, Handrean
dc.contributor.authorFreiberger, Tomas
dc.contributor.authorBertolini, Stefano
dc.contributor.authorHarada-Shiba, Mariko
dc.contributor.authorBlom, Dirk J.
dc.contributor.authorRaal, Frederick J.
dc.contributor.authorCuchel, Marina
dc.contributor.authorTromp, Tycho R.
dc.contributor.authorHartgers, Merel L.
dc.contributor.authorHovingh, G. Kees
dc.contributor.authorVallejo-Vaz, Antonio J.
dc.contributor.authorRay, Kausik K.
dc.contributor.authorSoran, Handrean
dc.contributor.authorFreiberger, Tomas
dc.contributor.authorBertolini, Stefano A.
dc.contributor.authorHarada-Shiba, Mariko
dc.contributor.authorPang, Jing
dc.contributor.authorWatts, Gerald F.
dc.contributor.authorGreber-Platzer, Susanne
dc.contributor.authorMäser, Martin
dc.contributor.authorStulnig, Thomas M.
dc.contributor.authorEbenbichler, Christoph F.
dc.contributor.authorBin Thani, Khalid
dc.contributor.authorCassiman, David
dc.contributor.authorDescamps, Olivier S.
dc.contributor.authorRymen, Daisy
dc.contributor.authorWitters, Peter
dc.contributor.authorSantos, Raul D.
dc.contributor.authorBrunham, Liam R.
dc.contributor.authorFrancis, Gordon A.
dc.contributor.authorGenest, Jacques
dc.contributor.authorHegele, Robert A.
dc.contributor.authorKennedy, Brooke A.
dc.contributor.authorRuel, Isabelle
dc.contributor.authorSherman, Mark H.
dc.contributor.authorJiang, Long
dc.contributor.authorWang, Luya
dc.contributor.authorReiner, Željko
dc.contributor.authorBlaha, Vladimir
dc.contributor.authorCeska, Richard
dc.contributor.authorDvorakova, Jana
dc.contributor.authorDlouhy, Lubomir
dc.contributor.authorHorak, Pavel
dc.contributor.authorSoska, Vladimir
dc.contributor.authorTichy, Lukas
dc.contributor.authorUrbanek, Robin
dc.contributor.authorVaverkova, Helena
dc.contributor.authorVrablik, Michal
dc.contributor.authorZemek, Stanislav
dc.contributor.authorZlatohlavek, Lukas
dc.contributor.authorEmil, Sameh
dc.contributor.authorNaguib, Tarek
dc.contributor.authorReda, Ashraf
dc.contributor.authorBéliard, Sophie
dc.contributor.authorBruckert, Eric
dc.contributor.authorGallo, Antonio
dc.contributor.authorElisaf, Moses S.
dc.contributor.authorKolovou, Genovefa
dc.contributor.authorCohen, Hofit
dc.contributor.authorDurst, Ronen
dc.contributor.authorDann, Eldad J.
dc.contributor.authorElis, Avishay
dc.contributor.authorHussein, Osama
dc.contributor.authorLeitersdorf, Eran
dc.contributor.authorSchurr, Daniel
dc.contributor.authorSetia, Nitika
dc.contributor.authorVerma, Ishwar C.
dc.contributor.authorAlareedh, Mohammed D.
dc.contributor.authorAl-Khnifsawi, Mutaz
dc.contributor.authorAbdalsahib Al-Zamili, Ali F.
dc.contributor.authorRhadi, Sabah H.
dc.contributor.authorShaghee, Foaad K.
dc.contributor.authorArca, Marcello
dc.contributor.authorAverna, Maurizio
dc.contributor.authorBartuli, Andrea
dc.contributor.authorBucci, Marco
dc.contributor.authorBuonuomo, Paola S.
dc.contributor.authorCalabrò, Paolo
dc.contributor.authorCalandra, Sebastiano
dc.contributor.authorCasula, Manuela
dc.contributor.authorCatapano, Alberico L.
dc.contributor.authorCefalù, Angelo B.
dc.contributor.authorCicero, Arrigo F.G.
dc.contributor.authorD'Addato, Sergio
dc.contributor.authorD'Erasmo, Laura
dc.contributor.authorDi Costanzo, Alessia
dc.contributor.authorFasano, Tommaso
dc.contributor.authorGazzotti, Marta
dc.contributor.authorGiammanco, Antonina
dc.contributor.authorIannuzzo, Gabriella
dc.contributor.authorIbba, Anastasia
dc.contributor.authorNegri, Emanuele A.
dc.contributor.authorPasta, Andrea
dc.contributor.authorPavanello, Chiara
dc.contributor.authorPisciotta, Livia
dc.contributor.authorRabacchi, Claudio
dc.contributor.authorRipoli, Carlo
dc.contributor.authorSampietro, Tiziana
dc.contributor.authorSbrana, Francesco
dc.contributor.authorSileo, Fulvio
dc.contributor.authorSuppressa, Patrizia
dc.contributor.authorTarugi, Patrizia
dc.contributor.authorTrenti, Chiara
dc.contributor.authorZenti, Maria G.
dc.contributor.authorHori, Mika
dc.contributor.authorAyesh, Mahmoud H.
dc.contributor.authorAzar, Sami T.
dc.contributor.authorBitar, Fadi F.
dc.contributor.authorFahed, Akl C.
dc.contributor.authorMoubarak, Elie M.
dc.contributor.authorNemer, Georges
dc.contributor.authorNawawi, Hapizah M.
dc.contributor.authorMadriz, Ramón
dc.contributor.authorMehta, Roopa
dc.contributor.authorCupido, Arjen J.
dc.contributor.authorDefesche, Joep C.
dc.contributor.authorReijman, M. Doortje
dc.contributor.authorRoeters-van Lennep, Jeanine E.
dc.contributor.authorStroes, Erik S.G.
dc.contributor.authorWiegman, Albert
dc.contributor.authorZuurbier, Linda
dc.contributor.authorAl-Waili, Khalid
dc.contributor.authorSadiq, Fouzia
dc.contributor.authorChlebus, Krzysztof
dc.contributor.authorBourbon, Mafalda
dc.contributor.authorGaspar, Isabel M.
dc.contributor.authorLalic, Katarina S.
dc.contributor.authorEzhov, Marat V.
dc.contributor.authorSusekov, Andrey V.
dc.contributor.authorGroselj, Urh
dc.contributor.authorCharng, Min-Ji
dc.contributor.authorKhovidhunkit, Weerapan
dc.contributor.authorAktan, Melih
dc.contributor.authorAltunkeser, Bulent B.
dc.contributor.authorDemircioglu, Sinan
dc.contributor.authorKose, Melis
dc.contributor.authorGokce, Cumali
dc.contributor.authorIlhan, Osman
dc.contributor.authorKayikcioglu, Meral
dc.contributor.authorKaynar, Leyla G.
dc.contributor.authorKuku, Irfan
dc.contributor.authorKurtoglu, Erdal
dc.contributor.authorOkutan, Harika
dc.contributor.authorOzcebe, Osman I.
dc.contributor.authorPekkolay, Zafer
dc.contributor.authorSag, Saim
dc.contributor.authorSalcioglu, Osman Z.
dc.contributor.authorTemizhan, Ahmet
dc.contributor.authorYenercag, Mustafa
dc.contributor.authorYilmaz, Mehmet
dc.contributor.authorYilmaz Yasar, Hamiyet
dc.contributor.authorMitchenko, Olena
dc.contributor.authorLyons, Alexander R.M.
dc.contributor.authorStevens, Christophe A.T.
dc.contributor.authorBrothers, Julie A.
dc.contributor.authorHudgins, Lisa C.
dc.contributor.authorNguyen, Christina
dc.contributor.authorAlieva, Rano
dc.contributor.authorShek, Aleksandr
dc.contributor.authorDo, Doan-Loi
dc.contributor.authorKim, Ngoc-Thanh
dc.contributor.authorLe, Hong-An
dc.contributor.authorLe, Thanh-Tung
dc.contributor.authorNguyen, Mai-Ngoc T.
dc.contributor.authorTruong, Thanh-Huong
dc.contributor.authorBlom, Dirk J.
dc.contributor.authorRaal, Frederick J.
dc.contributor.authorCuchel, Marina
dc.date.accessioned2023-01-27T15:26:12Z
dc.date.available2023-01-27T15:26:12Z
dc.date.issued2022-02-19
dc.descriptionHomozygous Familial Hypercholesterolaemia International Clinical Collaborators: Tycho R Tromp, Merel L Hartgers, G Kees Hovingh, Antonio J Vallejo-Vaz, Kausik K Ray, Handrean Soran, Tomas Freiberger, Stefano A Bertolini, Mariko Harada-Shiba, Jing Pang, Gerald F Watts, Susanne Greber-Platzer, Martin Mäser, Thomas M Stulnig, Christoph F Ebenbichler, Khalid Bin Thani, David Cassiman, Olivier S Descamps, Daisy Rymen, Peter Witters, Raul D Santos, Liam R Brunham, Gordon A Francis, Jacques Genest, Robert A Hegele, Brooke A Kennedy, Isabelle Ruel, Mark H Sherman, Long Jiang, Luya Wang, Željko Reiner, Vladimir Blaha, Richard Ceska, Jana Dvorakova, Lubomir Dlouhy, Pavel Horak, Vladimir Soska, Lukas Tichy, Robin Urbanek, Helena Vaverkova, Michal Vrablik, Stanislav Zemek, Lukas Zlatohlavek, Sameh Emil, Tarek Naguib, Ashraf Reda, Sophie Béliard, Eric Bruckert, Antonio Gallo, Moses S Elisaf, Genovefa Kolovou, Hofit Cohen, Ronen Durst, Eldad J Dann, Avishay Elis, Osama Hussein, Eran Leitersdorf, Daniel Schurr, Nitika Setia, Ishwar C Verma, Mohammed D Alareedh, Mutaz Al-Khnifsawi, Ali F Abdalsahib Al-Zamili, Sabah H Rhadi, Foaad K Shaghee, Marcello Arca, Maurizio Averna, Andrea Bartuli, Marco Bucci, Paola S Buonuomo, Paolo Calabrò, Sebastiano Calandra, Manuela Casula, Alberico L Catapano, Angelo B Cefalù, Arrigo F G Cicero, Sergio D'Addato, Laura D'Erasmo, Alessia Di Costanzo, Tommaso Fasano, Marta Gazzotti, Antonina Giammanco, Gabriella Iannuzzo, Anastasia Ibba, Emanuele A Negri, Andrea Pasta, Chiara Pavanello, Livia Pisciotta, Claudio Rabacchi, Carlo Ripoli, Tiziana Sampietro, Francesco Sbrana, Fulvio Sileo, Patrizia Suppressa, Patrizia Tarugi, Chiara Trenti, Maria G Zenti, Mika Hori, Mahmoud H Ayesh, Sami T Azar, Fadi F Bitar, Akl C Fahed, Elie M Moubarak, Georges Nemer, Hapizah M Nawawi, Ramón Madriz, Roopa Mehta, Arjen J Cupido, Joep C Defesche, M Doortje Reijman, Jeanine E Roeters-van Lennep, Erik S G Stroes, Albert Wiegman, Linda Zuurbier, Khalid Al-Waili, Fouzia Sadiq, Krzysztof Chlebus, Mafalda Bourbon, Isabel M Gaspar, Katarina S Lalic, Marat V Ezhov, Andrey V Susekov, Urh Groselj, Min-Ji Charng, Weerapan Khovidhunkit, Melih Aktan, Bulent B Altunkeser, Sinan Demircioglu, Melis Kose, Cumali Gokce, Osman Ilhan, Meral Kayikcioglu, Leyla G Kaynar, Irfan Kuku, Erdal Kurtoglu, Harika Okutan, Osman I Ozcebe, Zafer Pekkolay, Saim Sag, Osman Z Salcioglu, Ahmet Temizhan, Mustafa Yenercag, Mehmet Yilmaz, Hamiyet Yilmaz Yasar, Olena Mitchenko, Alexander R M Lyons, Christophe A T Stevens, Julie A Brothers, Lisa C Hudgins, Christina Nguyen, Rano Alieva, Aleksandr Shek, Doan-Loi Do, Ngoc-Thanh Kim, Hong-An Le, Thanh-Tung Le, Mai-Ngoc T Nguyen, Thanh-Huong Truong, Dirk J Blom, Frederick J Raal, Marina Cuchel.pt_PT
dc.description.abstractBackground: 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. Methods: The HoFH International Clinical Collaborators registry collected data on patients with a clinical, or genetic, or both, diagnosis of HoFH using a retrospective cohort study design. This trial is registered with ClinicalTrials.gov, NCT04815005. Findings: Overall, 751 patients from 38 countries were included, with 565 (75%) reporting biallelic pathogenic variants. The median age of diagnosis was 12·0 years (IQR 5·5-27·0) years. Of the 751 patients, 389 (52%) were female and 362 (48%) were male. Race was reported for 527 patients; 338 (64%) patients were White, 121 (23%) were Asian, and 68 (13%) were Black or mixed race. The major manifestations of ASCVD or aortic stenosis were already present in 65 (9%) of patients at diagnosis of HoFH. Globally, pretreatment LDL cholesterol levels were 14·7 mmol/L (IQR 11·6-18·4). Among patients with detailed therapeutic information, 491 (92%) of 534 received statins, 342 (64%) of 534 received ezetimibe, and 243 (39%) of 621 received lipoprotein apheresis. On-treatment LDL cholesterol levels were lower in high-income countries (3·93 mmol/L, IQR 2·6-5·8) versus non-high-income countries (9·3 mmol/L, 6·7-12·7), with greater use of three or more lipid-lowering therapies (LLT; high-income 66% vs non-high-income 24%) and consequently more patients attaining guideline-recommended LDL cholesterol goals (high-income 21% vs non-high-income 3%). A first major adverse cardiovascular event occurred a decade earlier in non-high-income countries, at a median age of 24·5 years (IQR 17·0-34·5) versus 37·0 years (29·0-49·0) in high-income countries (adjusted hazard ratio 1·64, 95% CI 1·13-2·38). Interpretation: Worldwide, patients with HoFH are diagnosed too late, undertreated, and at high premature ASCVD risk. Greater use of multi-LLT regimens is associated with lower LDL cholesterol levels and better outcomes. Significant global disparities exist in treatment regimens, control of LDL cholesterol levels, and cardiovascular event-free survival, which demands a critical re-evaluation of global health policy to reduce inequalities and improve outcomes for all patients with HoFH.pt_PT
dc.description.sponsorshipAmsterdam University Medical Centers, Location Academic Medical Center; Perelman School of Medicine at the University of Pennsylvania; and European Atherosclerosis Society.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationLancet. 2022 Feb 19;399(10326):719-728. doi: 10.1016/S0140-6736(21)02001-8. Epub 2022 Jan 28pt_PT
dc.identifier.doi10.1016/S0140-6736(21)02001-8pt_PT
dc.identifier.issn0140-6736
dc.identifier.urihttp://hdl.handle.net/10400.18/8464
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S0140673621020018pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectFamilial Hypercholesterolaemiapt_PT
dc.subjectCardiovascular Diseasept_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleWorldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort studypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage728pt_PT
oaire.citation.issue10326pt_PT
oaire.citation.startPage719pt_PT
oaire.citation.titleThe Lancetpt_PT
oaire.citation.volume399pt_PT
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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