Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

Detalhes bibliográficos
Autor(a) principal: Tromp, Tycho R.
Data de Publicação: 2022
Outros Autores: Hartgers, Merel L., Hovingh, G Kees, Vallejo-Vaz, Antonio J., Ray, Kausik K., Soran, Handrean, Freiberger, Tomas, Bertolini, Stefano, Harada-Shiba, Mariko, Blom, Dirk J., Raal, Frederick J., Cuchel, Marina, Hovingh, G. Kees, Bertolini, Stefano A., Pang, Jing, Watts, Gerald F., Greber-Platzer, Susanne, Mäser, Martin, Stulnig, Thomas M., Ebenbichler, Christoph F., Bin Thani, Khalid, Cassiman, David, Descamps, Olivier S., Rymen, Daisy, Witters, Peter, Santos, Raul D., Brunham, Liam R., Francis, Gordon A., Genest, Jacques, Hegele, Robert A., Kennedy, Brooke A., Ruel, Isabelle, Sherman, Mark H., Jiang, Long, Wang, Luya, Reiner, Željko, Blaha, Vladimir, Ceska, Richard, Dvorakova, Jana, Dlouhy, Lubomir, Horak, Pavel, Soska, Vladimir, Tichy, Lukas, Urbanek, Robin, Vaverkova, Helena, Vrablik, Michal, Zemek, Stanislav, Zlatohlavek, Lukas, Emil, Sameh, Naguib, Tarek, Reda, Ashraf, Béliard, Sophie, Bruckert, Eric, Gallo, Antonio, Elisaf, Moses S., Kolovou, Genovefa, Cohen, Hofit, Durst, Ronen, Dann, Eldad J., Elis, Avishay, Hussein, Osama, Leitersdorf, Eran, Schurr, Daniel, Setia, Nitika, Verma, Ishwar C., Alareedh, Mohammed D., Al-Khnifsawi, Mutaz, Abdalsahib Al-Zamili, Ali F., Rhadi, Sabah H., Shaghee, Foaad K., Arca, Marcello, Averna, Maurizio, Bartuli, Andrea, Bucci, Marco, Buonuomo, Paola S., Calabrò, Paolo, Calandra, Sebastiano, Casula, Manuela, Catapano, Alberico L., Cefalù, Angelo B., Cicero, Arrigo F.G., D'Addato, Sergio, D'Erasmo, Laura, Di Costanzo, Alessia, Fasano, Tommaso, Gazzotti, Marta, Giammanco, Antonina, Iannuzzo, Gabriella, Ibba, Anastasia, Negri, Emanuele A., Pasta, Andrea, Pavanello, Chiara, Pisciotta, Livia, Rabacchi, Claudio, Ripoli, Carlo, Sampietro, Tiziana, Sbrana, Francesco, Sileo, Fulvio, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, Zenti, Maria G., Hori, Mika, Ayesh, Mahmoud H., Azar, Sami T., Bitar, Fadi F., Fahed, Akl C., Moubarak, Elie M., Nemer, Georges, Nawawi, Hapizah M., Madriz, Ramón, Mehta, Roopa, Cupido, Arjen J., Defesche, Joep C., Reijman, M. Doortje, Roeters-van Lennep, Jeanine E., Stroes, Erik S.G., Wiegman, Albert, Zuurbier, Linda, Al-Waili, Khalid, Sadiq, Fouzia, Chlebus, Krzysztof, Bourbon, Mafalda, Gaspar, Isabel M., Lalic, Katarina S., Ezhov, Marat V., Susekov, Andrey V., Groselj, Urh, Charng, Min-Ji, Khovidhunkit, Weerapan, Aktan, Melih, Altunkeser, Bulent B., Demircioglu, Sinan, Kose, Melis, Gokce, Cumali, Ilhan, Osman, Kayikcioglu, Meral, Kaynar, Leyla G., Kuku, Irfan, Kurtoglu, Erdal, Okutan, Harika, Ozcebe, Osman I., Pekkolay, Zafer, Sag, Saim, Salcioglu, Osman Z., Temizhan, Ahmet, Yenercag, Mustafa, Yilmaz, Mehmet, Yilmaz Yasar, Hamiyet, Mitchenko, Olena, Lyons, Alexander R.M., Stevens, Christophe A.T., Brothers, Julie A., Hudgins, Lisa C., Nguyen, Christina, Alieva, Rano, Shek, Aleksandr, Do, Doan-Loi, Kim, Ngoc-Thanh, Le, Hong-An, Le, Thanh-Tung, Nguyen, Mai-Ngoc T., Truong, Thanh-Huong
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/8464
Resumo: Homozygous 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.
id RCAP_c5b9c325fb2f9b3220850d082d02bb06
oai_identifier_str oai:repositorio.insa.pt:10400.18/8464
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str
spelling Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort studyFamilial HypercholesterolaemiaCardiovascular DiseaseDoenças Cardio e Cérebro-vascularesHomozygous 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.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. 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.Amsterdam University Medical Centers, Location Academic Medical Center; Perelman School of Medicine at the University of Pennsylvania; and European Atherosclerosis Society.ElsevierRepositório Científico do Instituto Nacional de SaúdeTromp, Tycho R.Hartgers, Merel L.Hovingh, G KeesVallejo-Vaz, Antonio J.Ray, Kausik K.Soran, HandreanFreiberger, TomasBertolini, StefanoHarada-Shiba, MarikoBlom, Dirk J.Raal, Frederick J.Cuchel, MarinaTromp, Tycho R.Hartgers, Merel L.Hovingh, G. KeesVallejo-Vaz, Antonio J.Ray, Kausik K.Soran, HandreanFreiberger, TomasBertolini, Stefano A.Harada-Shiba, MarikoPang, JingWatts, Gerald F.Greber-Platzer, SusanneMäser, MartinStulnig, Thomas M.Ebenbichler, Christoph F.Bin Thani, KhalidCassiman, DavidDescamps, Olivier S.Rymen, DaisyWitters, PeterSantos, Raul D.Brunham, Liam R.Francis, Gordon A.Genest, JacquesHegele, Robert A.Kennedy, Brooke A.Ruel, IsabelleSherman, Mark H.Jiang, LongWang, LuyaReiner, ŽeljkoBlaha, VladimirCeska, RichardDvorakova, JanaDlouhy, LubomirHorak, PavelSoska, VladimirTichy, LukasUrbanek, RobinVaverkova, HelenaVrablik, MichalZemek, StanislavZlatohlavek, LukasEmil, SamehNaguib, TarekReda, AshrafBéliard, SophieBruckert, EricGallo, AntonioElisaf, Moses S.Kolovou, GenovefaCohen, HofitDurst, RonenDann, Eldad J.Elis, AvishayHussein, OsamaLeitersdorf, EranSchurr, DanielSetia, NitikaVerma, Ishwar C.Alareedh, Mohammed D.Al-Khnifsawi, MutazAbdalsahib Al-Zamili, Ali F.Rhadi, Sabah H.Shaghee, Foaad K.Arca, MarcelloAverna, MaurizioBartuli, AndreaBucci, MarcoBuonuomo, Paola S.Calabrò, PaoloCalandra, SebastianoCasula, ManuelaCatapano, Alberico L.Cefalù, Angelo B.Cicero, Arrigo F.G.D'Addato, SergioD'Erasmo, LauraDi Costanzo, AlessiaFasano, TommasoGazzotti, MartaGiammanco, AntoninaIannuzzo, GabriellaIbba, AnastasiaNegri, Emanuele A.Pasta, AndreaPavanello, ChiaraPisciotta, LiviaRabacchi, ClaudioRipoli, CarloSampietro, TizianaSbrana, FrancescoSileo, FulvioSuppressa, PatriziaTarugi, PatriziaTrenti, ChiaraZenti, Maria G.Hori, MikaAyesh, Mahmoud H.Azar, Sami T.Bitar, Fadi F.Fahed, Akl C.Moubarak, Elie M.Nemer, GeorgesNawawi, Hapizah M.Madriz, RamónMehta, RoopaCupido, Arjen J.Defesche, Joep C.Reijman, M. DoortjeRoeters-van Lennep, Jeanine E.Stroes, Erik S.G.Wiegman, AlbertZuurbier, LindaAl-Waili, KhalidSadiq, FouziaChlebus, KrzysztofBourbon, MafaldaGaspar, Isabel M.Lalic, Katarina S.Ezhov, Marat V.Susekov, Andrey V.Groselj, UrhCharng, Min-JiKhovidhunkit, WeerapanAktan, MelihAltunkeser, Bulent B.Demircioglu, SinanKose, MelisGokce, CumaliIlhan, OsmanKayikcioglu, MeralKaynar, Leyla G.Kuku, IrfanKurtoglu, ErdalOkutan, HarikaOzcebe, Osman I.Pekkolay, ZaferSag, SaimSalcioglu, Osman Z.Temizhan, AhmetYenercag, MustafaYilmaz, MehmetYilmaz Yasar, HamiyetMitchenko, OlenaLyons, Alexander R.M.Stevens, Christophe A.T.Brothers, Julie A.Hudgins, Lisa C.Nguyen, ChristinaAlieva, RanoShek, AleksandrDo, Doan-LoiKim, Ngoc-ThanhLe, Hong-AnLe, Thanh-TungNguyen, Mai-Ngoc T.Truong, Thanh-HuongBlom, Dirk J.Raal, Frederick J.Cuchel, Marina2023-01-27T15:26:12Z2022-02-192022-02-19T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/8464engLancet. 2022 Feb 19;399(10326):719-728. doi: 10.1016/S0140-6736(21)02001-8. Epub 2022 Jan 280140-673610.1016/S0140-6736(21)02001-8info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:42:35ZPortal AgregadorONG
dc.title.none.fl_str_mv Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
title Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
spellingShingle Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
Tromp, Tycho R.
Familial Hypercholesterolaemia
Cardiovascular Disease
Doenças Cardio e Cérebro-vasculares
title_short Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
title_full Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
title_fullStr Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
title_full_unstemmed Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
title_sort Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
author Tromp, Tycho R.
author_facet Tromp, Tycho R.
Hartgers, Merel L.
Hovingh, G Kees
Vallejo-Vaz, Antonio J.
Ray, Kausik K.
Soran, Handrean
Freiberger, Tomas
Bertolini, Stefano
Harada-Shiba, Mariko
Blom, Dirk J.
Raal, Frederick J.
Cuchel, Marina
Hovingh, G. Kees
Bertolini, Stefano A.
Pang, Jing
Watts, Gerald F.
Greber-Platzer, Susanne
Mäser, Martin
Stulnig, Thomas M.
Ebenbichler, Christoph F.
Bin Thani, Khalid
Cassiman, David
Descamps, Olivier S.
Rymen, Daisy
Witters, Peter
Santos, Raul D.
Brunham, Liam R.
Francis, Gordon A.
Genest, Jacques
Hegele, Robert A.
Kennedy, Brooke A.
Ruel, Isabelle
Sherman, Mark H.
Jiang, Long
Wang, Luya
Reiner, Željko
Blaha, Vladimir
Ceska, Richard
Dvorakova, Jana
Dlouhy, Lubomir
Horak, Pavel
Soska, Vladimir
Tichy, Lukas
Urbanek, Robin
Vaverkova, Helena
Vrablik, Michal
Zemek, Stanislav
Zlatohlavek, Lukas
Emil, Sameh
Naguib, Tarek
Reda, Ashraf
Béliard, Sophie
Bruckert, Eric
Gallo, Antonio
Elisaf, Moses S.
Kolovou, Genovefa
Cohen, Hofit
Durst, Ronen
Dann, Eldad J.
Elis, Avishay
Hussein, Osama
Leitersdorf, Eran
Schurr, Daniel
Setia, Nitika
Verma, Ishwar C.
Alareedh, Mohammed D.
Al-Khnifsawi, Mutaz
Abdalsahib Al-Zamili, Ali F.
Rhadi, Sabah H.
Shaghee, Foaad K.
Arca, Marcello
Averna, Maurizio
Bartuli, Andrea
Bucci, Marco
Buonuomo, Paola S.
Calabrò, Paolo
Calandra, Sebastiano
Casula, Manuela
Catapano, Alberico L.
Cefalù, Angelo B.
Cicero, Arrigo F.G.
D'Addato, Sergio
D'Erasmo, Laura
Di Costanzo, Alessia
Fasano, Tommaso
Gazzotti, Marta
Giammanco, Antonina
Iannuzzo, Gabriella
Ibba, Anastasia
Negri, Emanuele A.
Pasta, Andrea
Pavanello, Chiara
Pisciotta, Livia
Rabacchi, Claudio
Ripoli, Carlo
Sampietro, Tiziana
Sbrana, Francesco
Sileo, Fulvio
Suppressa, Patrizia
Tarugi, Patrizia
Trenti, Chiara
Zenti, Maria G.
Hori, Mika
Ayesh, Mahmoud H.
Azar, Sami T.
Bitar, Fadi F.
Fahed, Akl C.
Moubarak, Elie M.
Nemer, Georges
Nawawi, Hapizah M.
Madriz, Ramón
Mehta, Roopa
Cupido, Arjen J.
Defesche, Joep C.
Reijman, M. Doortje
Roeters-van Lennep, Jeanine E.
Stroes, Erik S.G.
Wiegman, Albert
Zuurbier, Linda
Al-Waili, Khalid
Sadiq, Fouzia
Chlebus, Krzysztof
Bourbon, Mafalda
Gaspar, Isabel M.
Lalic, Katarina S.
Ezhov, Marat V.
Susekov, Andrey V.
Groselj, Urh
Charng, Min-Ji
Khovidhunkit, Weerapan
Aktan, Melih
Altunkeser, Bulent B.
Demircioglu, Sinan
Kose, Melis
Gokce, Cumali
Ilhan, Osman
Kayikcioglu, Meral
Kaynar, Leyla G.
Kuku, Irfan
Kurtoglu, Erdal
Okutan, Harika
Ozcebe, Osman I.
Pekkolay, Zafer
Sag, Saim
Salcioglu, Osman Z.
Temizhan, Ahmet
Yenercag, Mustafa
Yilmaz, Mehmet
Yilmaz Yasar, Hamiyet
Mitchenko, Olena
Lyons, Alexander R.M.
Stevens, Christophe A.T.
Brothers, Julie A.
Hudgins, Lisa C.
Nguyen, Christina
Alieva, Rano
Shek, Aleksandr
Do, Doan-Loi
Kim, Ngoc-Thanh
Le, Hong-An
Le, Thanh-Tung
Nguyen, Mai-Ngoc T.
Truong, Thanh-Huong
author_role author
author2 Hartgers, Merel L.
Hovingh, G Kees
Vallejo-Vaz, Antonio J.
Ray, Kausik K.
Soran, Handrean
Freiberger, Tomas
Bertolini, Stefano
Harada-Shiba, Mariko
Blom, Dirk J.
Raal, Frederick J.
Cuchel, Marina
Hovingh, G. Kees
Bertolini, Stefano A.
Pang, Jing
Watts, Gerald F.
Greber-Platzer, Susanne
Mäser, Martin
Stulnig, Thomas M.
Ebenbichler, Christoph F.
Bin Thani, Khalid
Cassiman, David
Descamps, Olivier S.
Rymen, Daisy
Witters, Peter
Santos, Raul D.
Brunham, Liam R.
Francis, Gordon A.
Genest, Jacques
Hegele, Robert A.
Kennedy, Brooke A.
Ruel, Isabelle
Sherman, Mark H.
Jiang, Long
Wang, Luya
Reiner, Željko
Blaha, Vladimir
Ceska, Richard
Dvorakova, Jana
Dlouhy, Lubomir
Horak, Pavel
Soska, Vladimir
Tichy, Lukas
Urbanek, Robin
Vaverkova, Helena
Vrablik, Michal
Zemek, Stanislav
Zlatohlavek, Lukas
Emil, Sameh
Naguib, Tarek
Reda, Ashraf
Béliard, Sophie
Bruckert, Eric
Gallo, Antonio
Elisaf, Moses S.
Kolovou, Genovefa
Cohen, Hofit
Durst, Ronen
Dann, Eldad J.
Elis, Avishay
Hussein, Osama
Leitersdorf, Eran
Schurr, Daniel
Setia, Nitika
Verma, Ishwar C.
Alareedh, Mohammed D.
Al-Khnifsawi, Mutaz
Abdalsahib Al-Zamili, Ali F.
Rhadi, Sabah H.
Shaghee, Foaad K.
Arca, Marcello
Averna, Maurizio
Bartuli, Andrea
Bucci, Marco
Buonuomo, Paola S.
Calabrò, Paolo
Calandra, Sebastiano
Casula, Manuela
Catapano, Alberico L.
Cefalù, Angelo B.
Cicero, Arrigo F.G.
D'Addato, Sergio
D'Erasmo, Laura
Di Costanzo, Alessia
Fasano, Tommaso
Gazzotti, Marta
Giammanco, Antonina
Iannuzzo, Gabriella
Ibba, Anastasia
Negri, Emanuele A.
Pasta, Andrea
Pavanello, Chiara
Pisciotta, Livia
Rabacchi, Claudio
Ripoli, Carlo
Sampietro, Tiziana
Sbrana, Francesco
Sileo, Fulvio
Suppressa, Patrizia
Tarugi, Patrizia
Trenti, Chiara
Zenti, Maria G.
Hori, Mika
Ayesh, Mahmoud H.
Azar, Sami T.
Bitar, Fadi F.
Fahed, Akl C.
Moubarak, Elie M.
Nemer, Georges
Nawawi, Hapizah M.
Madriz, Ramón
Mehta, Roopa
Cupido, Arjen J.
Defesche, Joep C.
Reijman, M. Doortje
Roeters-van Lennep, Jeanine E.
Stroes, Erik S.G.
Wiegman, Albert
Zuurbier, Linda
Al-Waili, Khalid
Sadiq, Fouzia
Chlebus, Krzysztof
Bourbon, Mafalda
Gaspar, Isabel M.
Lalic, Katarina S.
Ezhov, Marat V.
Susekov, Andrey V.
Groselj, Urh
Charng, Min-Ji
Khovidhunkit, Weerapan
Aktan, Melih
Altunkeser, Bulent B.
Demircioglu, Sinan
Kose, Melis
Gokce, Cumali
Ilhan, Osman
Kayikcioglu, Meral
Kaynar, Leyla G.
Kuku, Irfan
Kurtoglu, Erdal
Okutan, Harika
Ozcebe, Osman I.
Pekkolay, Zafer
Sag, Saim
Salcioglu, Osman Z.
Temizhan, Ahmet
Yenercag, Mustafa
Yilmaz, Mehmet
Yilmaz Yasar, Hamiyet
Mitchenko, Olena
Lyons, Alexander R.M.
Stevens, Christophe A.T.
Brothers, Julie A.
Hudgins, Lisa C.
Nguyen, Christina
Alieva, Rano
Shek, Aleksandr
Do, Doan-Loi
Kim, Ngoc-Thanh
Le, Hong-An
Le, Thanh-Tung
Nguyen, Mai-Ngoc T.
Truong, Thanh-Huong
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Tromp, Tycho R.
Hartgers, Merel L.
Hovingh, G Kees
Vallejo-Vaz, Antonio J.
Ray, Kausik K.
Soran, Handrean
Freiberger, Tomas
Bertolini, Stefano
Harada-Shiba, Mariko
Blom, Dirk J.
Raal, Frederick J.
Cuchel, Marina
Tromp, Tycho R.
Hartgers, Merel L.
Hovingh, G. Kees
Vallejo-Vaz, Antonio J.
Ray, Kausik K.
Soran, Handrean
Freiberger, Tomas
Bertolini, Stefano A.
Harada-Shiba, Mariko
Pang, Jing
Watts, Gerald F.
Greber-Platzer, Susanne
Mäser, Martin
Stulnig, Thomas M.
Ebenbichler, Christoph F.
Bin Thani, Khalid
Cassiman, David
Descamps, Olivier S.
Rymen, Daisy
Witters, Peter
Santos, Raul D.
Brunham, Liam R.
Francis, Gordon A.
Genest, Jacques
Hegele, Robert A.
Kennedy, Brooke A.
Ruel, Isabelle
Sherman, Mark H.
Jiang, Long
Wang, Luya
Reiner, Željko
Blaha, Vladimir
Ceska, Richard
Dvorakova, Jana
Dlouhy, Lubomir
Horak, Pavel
Soska, Vladimir
Tichy, Lukas
Urbanek, Robin
Vaverkova, Helena
Vrablik, Michal
Zemek, Stanislav
Zlatohlavek, Lukas
Emil, Sameh
Naguib, Tarek
Reda, Ashraf
Béliard, Sophie
Bruckert, Eric
Gallo, Antonio
Elisaf, Moses S.
Kolovou, Genovefa
Cohen, Hofit
Durst, Ronen
Dann, Eldad J.
Elis, Avishay
Hussein, Osama
Leitersdorf, Eran
Schurr, Daniel
Setia, Nitika
Verma, Ishwar C.
Alareedh, Mohammed D.
Al-Khnifsawi, Mutaz
Abdalsahib Al-Zamili, Ali F.
Rhadi, Sabah H.
Shaghee, Foaad K.
Arca, Marcello
Averna, Maurizio
Bartuli, Andrea
Bucci, Marco
Buonuomo, Paola S.
Calabrò, Paolo
Calandra, Sebastiano
Casula, Manuela
Catapano, Alberico L.
Cefalù, Angelo B.
Cicero, Arrigo F.G.
D'Addato, Sergio
D'Erasmo, Laura
Di Costanzo, Alessia
Fasano, Tommaso
Gazzotti, Marta
Giammanco, Antonina
Iannuzzo, Gabriella
Ibba, Anastasia
Negri, Emanuele A.
Pasta, Andrea
Pavanello, Chiara
Pisciotta, Livia
Rabacchi, Claudio
Ripoli, Carlo
Sampietro, Tiziana
Sbrana, Francesco
Sileo, Fulvio
Suppressa, Patrizia
Tarugi, Patrizia
Trenti, Chiara
Zenti, Maria G.
Hori, Mika
Ayesh, Mahmoud H.
Azar, Sami T.
Bitar, Fadi F.
Fahed, Akl C.
Moubarak, Elie M.
Nemer, Georges
Nawawi, Hapizah M.
Madriz, Ramón
Mehta, Roopa
Cupido, Arjen J.
Defesche, Joep C.
Reijman, M. Doortje
Roeters-van Lennep, Jeanine E.
Stroes, Erik S.G.
Wiegman, Albert
Zuurbier, Linda
Al-Waili, Khalid
Sadiq, Fouzia
Chlebus, Krzysztof
Bourbon, Mafalda
Gaspar, Isabel M.
Lalic, Katarina S.
Ezhov, Marat V.
Susekov, Andrey V.
Groselj, Urh
Charng, Min-Ji
Khovidhunkit, Weerapan
Aktan, Melih
Altunkeser, Bulent B.
Demircioglu, Sinan
Kose, Melis
Gokce, Cumali
Ilhan, Osman
Kayikcioglu, Meral
Kaynar, Leyla G.
Kuku, Irfan
Kurtoglu, Erdal
Okutan, Harika
Ozcebe, Osman I.
Pekkolay, Zafer
Sag, Saim
Salcioglu, Osman Z.
Temizhan, Ahmet
Yenercag, Mustafa
Yilmaz, Mehmet
Yilmaz Yasar, Hamiyet
Mitchenko, Olena
Lyons, Alexander R.M.
Stevens, Christophe A.T.
Brothers, Julie A.
Hudgins, Lisa C.
Nguyen, Christina
Alieva, Rano
Shek, Aleksandr
Do, Doan-Loi
Kim, Ngoc-Thanh
Le, Hong-An
Le, Thanh-Tung
Nguyen, Mai-Ngoc T.
Truong, Thanh-Huong
Blom, Dirk J.
Raal, Frederick J.
Cuchel, Marina
dc.subject.por.fl_str_mv Familial Hypercholesterolaemia
Cardiovascular Disease
Doenças Cardio e Cérebro-vasculares
topic Familial Hypercholesterolaemia
Cardiovascular Disease
Doenças Cardio e Cérebro-vasculares
description Homozygous 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.
publishDate 2022
dc.date.none.fl_str_mv 2022-02-19
2022-02-19T00:00:00Z
2023-01-27T15:26:12Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/8464
url http://hdl.handle.net/10400.18/8464
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Lancet. 2022 Feb 19;399(10326):719-728. doi: 10.1016/S0140-6736(21)02001-8. Epub 2022 Jan 28
0140-6736
10.1016/S0140-6736(21)02001-8
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv embargoedAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1777303637263908864