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Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
Antonio J. Vallejo‐Vaz, Christophe Stevens, Alexander R.M. Lyons, Kanika Dharmayat, Tomáš Freiberger, G. Kees Hovingh, Pedro Mata, Frederick J. Raal, Raúl D. Santos, Handrean Soran, Gerald F. Watts, Marianne Abifadel, Carlos A. Aguilar-Salinas, Khalid F. AlHabib, Mutaz Al-Khnifsawi, Wael Almahmeed, Fahad Alnouri, Rodrigo Alonso, Khalid Al‐Rasadi, Ahmad Al‐Sarraf, Nasreen Al-Sayed, Francisco Araújo, Tester F. Ashavaid, Maciej Banach, Sophie Béliard, Marianne Benn, Christoph J. Binder, Martin P. Bogsrud, Mafalda Bourbon, Krzysztof Chlebus, Pablo Corral, Kairat Davletov, Olivier Descamps, Ronen Durst, М. В. Ежов, Dan Gaiță, Jacques Genest, Urh Grošelj, Mariko Harada‐Shiba, Kirsten B. Holven, Meral Kayıkçıoğlu, Weerapan Khovidhunkit, Katarina Lalić, Gustavs Latkovskis, Ulrich Laufs, Evangelos Liberopoulos, Marcos M. Lima-Martínez, Jie Lin, Vincent Maher, Adéle Marais, Winfried März, Erkin М Мirrakhimov, André R. Miserez, Olena Mitchenko, Hapizah Nawawi, Børge G. Nordestgaard, Andrie G. Panayiotou, György Paragh, Žaneta Petrulionienė, Belma Pojskić, Arman Postadzhiyan, Katarı́na Rašlová, Ashraf Reda, Željko Reiner, Fouzia Sadiq, Wilson E. Sadoh, Heribert Schunkert, Aleksandr B. Shek, Mario Stoll, Erik S.G. Stroes, Ta‐Chen Su, Tavintharan Subramaniam, Andrey V. Susekov, Myra Tilney, Brian Tomlinson, Thanh Huong Truong, Alexandros D. Tselepis, Anne Tybjærg‐Hansen, Alejandra Cárdenas, Margus Viigimaa, Luya Wang, Shizuya Yamashita, John J.P. Kastelein, Éric Bruckert, Branislav Vohnout, Laura Schreier, Jing Pang, Christoph Ebenbichler, Hans Dieplinger, Reinhold Innerhofer, Yvonne Winhofer-Stöckl, Susanne Greber‐Platzer, Konstantin A. Krychtiuk, Walter S. Speidl, Hermann Toplak, Kurt Widhalm, Thomas M. Stulnig, Kurt Huber, Florian Höllerl, Gersina Rega‐Kaun, Lucas Kleemann, Martin Mäser, Sabine Scholl‐Bürgi, Christoph Säly, Florian Mayer, Gaelle Sablon, Eric Tarantino, Charlotte Nzeyimana, Ibrahim Šišić, Azra Durak-Nalbantić, Cinthia E. Jannes, Alexandre C. Pereira, José Eduardo Krieger, Ivo Petrov, Assen Goudev, Fedya Nikolov, Snejana Tisheva, Yoto Yotov, Ivajlo Tzvetkov, Alexis Baass, Jean Bergeron, Sophie Bernard, Diane Brisson, Liam R. Brunham, Lubomira Cermakova, Patrick Couture, Gordon A. Francis, Daniel Gaudet, Robert A. Hegele, Étienne Khoury, G.B. John Mancini, Brian W. McCrindle, Martine Paquette, Isabelle L. Ruel, Ada Cuevas, Sylvia Asenjo, Xumin Wang, Kang Meng, Xiantao Song, Yong Qiang, Tao Jiang, Ziyou Liu, Yanyu Duan, Jing Hong, Pucong Ye, Yan Chen, Jianguang Qi, Zesen Liu, Yuntao Li, Chaoyi Zhang, Jie Peng, Ya Yang, Wei Yu, Qian Wang, Hui Yuan, Shitong Cheng, Long Jiang, Mei Chong, Jian Jiao, Yue Wu, Wenhui Wen, Liyuan Xu, Ruiying Zhang, Yichen Qu, Jianxun He, Xuesong Fan, Zhenjia Wang, Elaine Chow, Ivan Pećin, Dražen Perica, Phivos Symeonides, Michal Vrablı́k, Richard Češka, Vladimír Soška, Lukáš Tichý, Věra Adámková, J Franeková, Renata Cífková, Pavel Kraml, Katerina Vonaskova, Jana Čepová, Magdaléna Dušejovská, Lenka Pavlíčková, V. Bláha, Hana Rosolová, Barbora Nussbaumerová, Roman Cibulka, H Vaverková, Ľubica Cibičková, Zdenka Krejsova, Katerina Rehouskova, Pavel Malina, Milena Budikova, Vaclava Palanova, Lucie Solcova, Alena Lubasova, Helena Podzimkova, Juraj Bujdák, Jiří Veselý, Marta Jordanova, Robin Urbánek, Stanislav Zemek, Ján Lacko, Hana Halamkova, Sona Machacova, Šárka Malá, Eva Cubova, Katerina Valoskova, Lukas Burda, Ahmed Bendary, Ihab Daoud, Sameh Emil, Atef Elbahry, Samir Rafla, Osama Sanad, Ghada Kazamel, Mohamed Ashraf, Mohamed Sobhy, Amro El-Hadidy, Mohamed Abdoul Shafy, Saif Uldun Mostfa Kamal, Mohamed Bendary, Grete Talviste, Denis Angoulvant, Franck Boccara, Bertrand Cariou, Valérie Carreau, Alain Carrié, Sybil Charrières, Yves Cottin, Mathilde Di-Fillipo, Pierre Henri Ducluzeau, Sonia Dulong, Vincent Durlach, Michel Farnier, Émile Ferrari, Dorota Ferrières, Jean Ferrières, Antonio Gallo, R. Hankard, Jocelyne Inamo, Julie Lemale, Philippe Moulin, François Paillard, Noël Peretti, Agnès Perrin‐Guyomard, A. Pradignac, Jean‐Pierre Rabès, Vincent Rigalleau, Ariane Sultan, François Schiele, Patrick Tounian, René Valéro, Bruno Vergès, Cécile Yelnik, Olivier Ziegler, Ira an Haack, Nina Schmidt, Alexander Dressel, Isabel Klein, Jutta Christmann, Antonia Sonntag, Christine Stumpp, Diana Boger, Dana Biedermann, Monica M.N. Usme, Frank Ulrich Beil, Gerald Klose, Christel König, Ioanna Gouni‐Berthold, Britta Otte, Gereon Böll, Anja Kirschbaum, Jürgen Merke, Johannes Scholl, Thomas Segiet, Marco Gebauer, Florentina Predica, Manfred M. Mayer, Frank Leistikow, Sabine Füllgraf-Horst, Cornelius Müller, Melanie Schüler, Judith Wiener, Konrad Hein, Peter Baumgartner, Stefan Kopf, Reinhold Busch, Michael Schömig, Stephan Matthias, Nicole Allendorf-Ostwald, Bruno Fink, Dieter Böhm, Alexander Jäkel, Ann‐Cathrin Koschker, Rüdiger Schweizer, Anja Vogt, Klaus G. Parhofer, Wolfgang König, Wibke Reinhard, A. Bäßler, Alexander Stadelmann, V. Schrader, Julius L. Katzmann, Adrienne Tarr, Elisabeth Steinhagen‐Thiessen, Ursula Kassner, Gerret Paulsen, Jürgen Homberger, Claudia Zemmrich, K Biolik, Dorothee Deiss, Corinna Richter, Elina Pantchechnikova, Elena Dorn, Ulrike Schatz, Ulrich Julius, Antje Spens, Tobias Wiesner, Michael Schöll, Christos V. Rizos, Nikolaos Sakkas, Moses Elisaf, Ioannis Skoumas, Κωνσταντίνος Τζιόμαλος, Loukianos Rallidis, Vasileios Athyros, Emmanouil Skalidis, Genovefa Kolovou, Anastasia Garoufi, E. Bilianou, Iosif Koutagiar, Dimitrios Agapakis, Estela Kiouri, Christina Antza, Niki Katsiki, Evangelos Zacharis, Achilleas Attilakos, George Sfikas, Charalambos Koumaras, Panagiotis Anagnostis, Georgia Anastasiou, Georgé Liamis, Amalia-Despoina Koutsogianni, Zsolt Karányi, Mariann Harangi, László Bajnok, Mária Audikovszky, László Márk, Béla Benczúr, István Reiber, Gergely Nagy, András Nagy, Lakshmi Lavanya Reddy, Swarup A.V. Shah, Chandrashekhar K. Ponde, Jamshed Dalal, J.P.S. Sawhney, Ishwar C. Verma, Mays Altaey, Khalid Al-Jumaily, Dilshad Rasul, Ali Fawzi Abdalsahib Al-Zamili, Amer Abdl Jabbar, Mohanad Al-ageedi, Ruth Agar, Hofit Cohen, Avishay Ellis, Dov Gavishv, Dror Harats, Yaacov Henkin, Hila Knobler, Leah Leavit, Eran Leitersdorf, Ardon Rubinstein, Daniel Schurr, Shoshi Shpitzen, Auryan Szalat, Manuela Casula, V. Zampoleri, Marta Gazzotti, Elena Olmastroni, Riccardo Sarzani, Claudio Ferri, Elena Repetti, Carlo Sabbà, Antonio Bossi, Claudio Borghi, Sandro Muntoni, Francesco Cipollone, Francesco Purrello, Arturo Pujia, Angelina Passaro, Rossella Marcucci, Valerio Pecchioli, Livia Pisciotta, Giuseppe Mandraffino, Fabio Pellegatta, Giuliana Mombelli, Adriana Branchi, A.M. Fiorenza, Cristina Pederiva, José Pablo Werba, Gianfranco Parati, Francesca Carubbi, Lorenzo Iughetti, Gabriella Iannuzzo, Paolo Calabrò, Maurizio Averna, Giacomo Biasucci, Sabina Zambon, Anna Rita Roscini, Chiara Trenti, Marcello Arca, Massimo Federici, Maria Del Ben, Andrea Bartuli, Andrea Giaccari, A. E. Pípolo, Nadia Citroni, Ornella Guardamagna, Katia Bonomo, Andrea Benso, Gianni Biolo, Lorenzo Maroni, Alessandro Lupi, Luca Bonanni, Maria Grazia Zenti, Kota Matsuki, Mika Hori, Masatsune Ogura, Daisaku Masuda, Takuya Kobayashi, Kumiko Nagahama, Mohammed Al‐Jarallah, Mirjana Radović, Olga Lunegova, Erkayim Bektasheva, Elyor Khodzhiboboev, Andrejs Ērglis, Dainus Gilis, Georgijs Nesterovics, Vita Saripo, Ruta Meiere, Arta Upena-RozeMicena, Elizabete Tērauda, S Jambart, Petra El Khoury, Sandy Elbitar, Carine Ayoub, Youmna Ghaleb, Urtė Aliošaitienė, S. Kutkienė, Noor Alicezah Mohd Kasim, Noor Shafina Mohd Nor, Anis Safura Ramli, Suraya Abdul-Razak, Alyaa Al-Khateeb, Siti Hamimah Sheikh Abdul Kadir, Suhaila Abd Muid, Thuhairah Abdul Rahman, Sazzli Shahlan Kasim, Ahmad Bakhtiar Md Radzi, Khairul Shafiq Ibrahim, Salmi Razali, Zaliha Ismail, Rohana Abdul Ghani, Muhammad Ilham Abdul Hafidz, Marshima Mohd Rosli, M Annamalai, Lay Kek Teh, Rafezah Razali, Yung-An Chua, Azhari Rosman, Asif Jamal, Sukma Azureen Nazli, Aimi Zafira Razman, Norhidayah Rosman, Radzi Rahmat, Nur Suhana Hamzan, Christine Azzopardi, Roopa Mehta, Alexandro J. Martagón, Gabriela Ramírez, Neftali Eduardo Antonio Villa, Arsenio Vargas‐Vázquez, Daniel Elías-López, Gustavo Gonzalez Retana, Betsabel Rodriguez, José Juan Ceballos-Macías, Alejandro Romero Zazueta, Rocio Martinez Alvarado, Julieta D. Morales-Portano, Humberto Alvares Lopez, Leobardo Sauque‐Reyna, Laura G. Gomez Herrera, Luis E. Simental Mendia, Humberto García‐Aguilar, Elizabeth Ramirez Cooremans, Berenice Peña Aparicio, Victoria Mendoza‐Zubieta, Perla A. Carrillo Gonzalez, Aldo Ferreira‐Hermosillo, Nacu Caracas Portilla, Guadalupe Jimenez Dominguez, Alinna Y. Ruiz Garcia, Héctor Eliud Arriaga-Cázares, Jesus R. Gonzalez, Carla V. Mendez Valencia, Francisco G. Padilla, Ramon Madriz Prado, Manuel Odin de Los Rios Ibarra, Ruy David Arjona Villicaña, Karina J. Acevedo Rivera, Ricardo Allende Carrera, José A. Álvarez, Jose C. Amezcua Martinez, Manuel de los Reyes Barrera Bustillo, Gonzalo Carazo Vargas, Roberto Contreras Chacon, Mario H. Figueroa Andrade, Ashanty Flores Ortega, Héctor García Alcalá, Laura E. Garcia de Leon, Berenice Garcia Guzman, Jose J.Garduño Garcia, Juan C. Garnica Cuellar, Jose R. Gomez Cruz, Anell Hernandez Garcia, Jesus R. Holguin Almada, Úrsulo Juárez Herrera, Fabiola Lugo Sobrevilla, Eduardo Rodríguez, Cristina Martinez Sibaja, Alma B. Medrano Rodriguez, Jose C. Morales Oyervides, Daniel I. Perez Vazquez, Eduardo Adolfo Rodríguez, Ma L.R. Osorio, Juan Rosas Saucedo, Margarita Torres‐Tamayo, Luis A. Valdez Talavera, Luis E. Vera Arroyo, Eloy A.Zepeda Carrillo, Alphonsus Rukevwe Isara, Darlington E. Obaseki, Khalid Al-Waili, Fahad Al-Zadjali, Ibrahim Al‐Zakwani, Suad Al-Mukhaini, Hamida Al-Barwani, Asım Noor Rana, Lahore Saeed Ullah Shah, Ewa Starostecka, Agnieszka Konopka, Joanna Lewek, Marcin A. Bartłomiejczyk, Mariusz Gąsior, Krzysztof Dyrbuś, Jacek Jerzy Jozwiak, Marcin Gruchała, Marcin Pajkowski, Marzena Romanowska‐Kocejko, Marta Żarczyńska-Buchowiecka, Magdalena Chmara, Bartosz Wasąg, Aleksandra Parczewska, Natasza Gilis‐Malinowska, Justyna Borowiec-Wolna, Aneta Stróżyk, Marlena Woś, Aleksandra Michalska-Grzonkowska, Ana Margarida Medeiros, Ana Catarina Alves, Francisco Silva, Goreti Lobarinhas, Isabel Palma, José Pereira de Moura, Miguel Toscano Rico, Quitéria Rato, Patrícia Pais, Susana Correia, Oana Moldovan, Maria João Virtuoso, José M. Salgado, Inês Colaço, Andreea Dumitrescu, Călin Lengher, Svetlana Moșteoru, А. Н. Мешков, А. И. Ершова, Tatiana Rozkova, Victoria Korneva, Kuznetsova T. Yu, Vitaliy Zafiraki, М. И. Воевода, В. С. Гуревич, D. V. Duplyakov, Maya Safarova, И. И. Шапошник, Fahmi Alkaf, Alia Khudari, Nawal Rwaili, Faisal A. Al-Allaf, Mohammad Alghamdi, Mohammed A. Batais, Turky H. Almigbal, Abdulhalim Jamal Kinsara, Ashraf Hammouda Ahmed AlQudaimi, Zuhier Awan, Omer A. Elamin, Hani Altaradi, N. Rajković, Ljiljana Popović, Sandra Singh, Ljubica Stošić, Iva Rasulić, Nebojša Lalić, Carolyn S.P. Lam, Tan Ju Le, Eric Lim Tien Siang, Sanjaya Dissanayake, Justin Tang I-Shing, Tai E. Shyong, Terrance C.S. Jin, Karin Bálinth, Ingrid Bugáňová, Ľubomíra Fábryová, Michaela Kadurová, Alexander Klabník, Miriam Kozárová, Jana Sirotiaková, Tadej Battelino, Jernej Kovač, Matej Mlinarič, Urša Šuštar, Katarina Trebušak Podkrajšek, Zlatko Fras, Borut Jug, Matija Cevc, Gillian J. Pilcher, Dirk Blom, Karen Wolmarans, Brigitte C. Brice, Ovidio Muñiz-Grijalvo, José Luis Díaz-Díaz, Leopoldo Pérez de Isla, Francisco Fuentes, Lina Badimón, François Martin, Angela Lux, Nien‐Tzu Chang, Poranee Ganokroj, Mehmet Akbulut, Gökhan Alıcı, Fahrı Bayram, Levent Can, Ahmet Çelik, Ceyhun Ceyhan, Fatma Yılmaz Çoşkun, Mesut Demir, Sabri Demircan, Volkan Doğan, İbrahim Etem Dural, Ömer Gedikli, Ayşa Hacıoğlu, Müge Ildızlı, Salih Kılıç, Bahadır Kırılmaz, Merih Kutlu, Aytekin Oğuz, Öner Özdoğan, Ersel Onrat, Savaş Özer, Tevfik Sabuncu, Tayfun Şahin, Fatih Sivri, Alper Sönmez, Ahmet Temizhan, Selim Topçu, Abdullah Tunçez, Miraç Vural, Mustafa Yenerçağ, Dilek Yeşilbursa, Zerrin Yiğit, Aytül Belgi Yıldırım, Aylin Yı́ldı́rı́r, Mehmet Birhan Yılmaz, Bassam Atallah, Mahmoud Traina, Hani Sabbour, Dana Abdul Hay, Neama Luqman, Abubaker Elfatih, Arshad Abdulrasheed, See Kwok, Ximena Reyes, Rano B. Alieva, R. D. Kurbanov, Shavkat U. Hoshimov, Ulugbek Nizamov, Adolat V. Ziyaeva, G J Abdullaeva, Linh Phuong Doan, Mai Nguyen, Ngoc‐Thanh Kim, Thanh T. Le, Hong An Le, Lâle Tokgözoğlu, Alberico L. Catapano, Kausik K. Ray
Bibliographic record
VenueThe Lancet · 2021
Typearticle
Languageen
FieldMedicine
TopicLipoproteins and Cardiovascular Health
Canadian institutionsnot available
FundersNIHR Imperial Biomedical Research CentreImperial College LondonCanadian Institutes of Health ResearchNational Institute for Health and Care ResearchRegeneron PharmaceuticalsMerckSanofiPfizerAmgen
KeywordsPerspective (graphical)Cross-sectional studyMedicinePediatricsComputer sciencePathologyArtificial intelligence
Abstract
No abstract in any covered source. Its absence is recorded, not treated as a negative.
No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.021
Threshold uncertainty score0.545
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
Opus teacher head0.063
GPT teacher head0.370
Teacher spread0.307 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".
Quick stats
Citations305
Published2021
Admission routes1
Has abstractno