| Title: |
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study |
| Authors: |
Dharmayat, Kanika Inamdar; Vallejo-Vaz, Antonio J.; Stevens, Christophe A. T.; Brandts, Julia M.; Lyons, Alexander R. M.; Groselj, Urh; Abifadel, Marianne; Aguilar-Salinas, Carlos A.; Alhabib, Khalid; Alkhnifsawi, Mutaz; Almahmeed, Wael; Alnouri, Fahad; Alonso, Rodrigo; Al-Rasadi, Khalid; Ashavaid, Tester F.; Banach, Maciej; Béliard, Sophie; Binder, Christoph; Bourbon, Mafalda; Chlebus, Krzysztof; Corral, Pablo; Cruz, Diogo; Descamps, Olivier S.; Drogari, Euridiki; Durst, Ronen; Ezhov, Marat V.; Genest, Jacques; Harada-Shiba, Mariko; Holven, Kirsten B.; Humphries, Steve E.; Khovidhunkit, Weerapan; Lalic, Katarina; Laufs, Ulrich; Liberopoulos, Evangelos; Roeters van Lennep, Jeanine; Lima-Martinez, Marcos Miguel; Lin, Jie; Maher, Vincent; März, Winfried; Miserez, André R.; Mitchenko, Olena; Nawawi, Hapizah; Panayiotou, Andrie G.; Paragh, György; Postadzhiyan, Arman; Reda, Ashraf; Reiner, Željko; Reyes, Ximena; Sadiq, Fouzia; Sahebkar, Amirhossein; Schunkert, Heribert; Shek, Aleksandr B.; Stroes, Eric; Su, Ta-Chen; Subramaniam, Tavintharan; Susekov, Andrey; Vázquez Cárdenas, Alejandra; Huong Truong, Thanh; Tselepis, Alexandros D.; Vohnout, Branislav; Wang, Luya; Yamashita, Shizuya; Al-Sarraf, Ahmad; Al-Sayed, Nasreen; Davletov, Kairat; Dwiputra, Bambang; Gaita, Dan; Kayikcioglu, Meral; Latkovskis, Gustavs; Marais, A. David; Thushara Matthias, Anne; Mirrakhimov, Erkin; Nordestgaard, Børge G.; Petrulioniene, Zaneta; Pojskic, Belma; Sadoh, Wilson; Tilney, Myra; Tomlinson, Brian; Tybjærg-Hansen, Anne; Viigimaa, Margus; Catapano, Alberico L.; Freiberger, Tomas; Hovingh, G. Kees; Mata, Pedro; Soran, Handrean; Raal, Frederick; Watts, Gerald F.; Schreier, Laura; Bañares, Virginia; Greber-Platzer, Susanne; Baumgartner-Kaut, Margot; de Gier, Charlotte; Dieplinger, Hans; Höllerl, Florian; Innerhofer, Reinhold; Karall, Daniela; Lischka, Julia; Ludvik, Bernhard; Mäser, Martin; Scholl-Bürgi, Sabine; Thajer, Alexandra; Toplak, Hermann; Demeure, Fabian; Mertens, Ann; Balligand, Jean-Luc; Stephenne, Xavier; Sokal, Etienne; Petrov, Ivo; Goudev, Assen; Nikolov, Fedya; Tisheva, Snejana; Yotov, Yoto; Tzvetkov, Ivajlo; Hegele, Robert A; Gaudet, Daniel; Brunham, Liam; Ruel, Isabelle; McCrindle, Brian; Cuevas, Ada; Perica, Dražen; Symeonides, Phivos; Trogkanis, Efstratios; Kostis, Andreas; Ioannou, Andreas; Mouzarou, Angeliki; Georgiou, Anthoula; Stylianou, Andreas; Miltiadous, George; Iacovides, Paris; Deltas, Constantinos; Vrablik, Michal; Urbanova, Zuzana; Jesina, Pavel; Tichy, Lukas; Hyanek, Josef; Dvorakova, Jana; Cepova, Jana; Sykora, Josef; Buresova, Kristyna; Pipek, Michal; Pistkova, Eva; Bartkova, Ivana; S|ulakova, Astrid; Toukalkova, Lenka; Spenerova, Michaela; Maly, Jan; Benn, Marianne; Bendary, Ahmed; Elbahry, Atef; Ferrières, Jean; Ferrieres, Dorota; Peretti, Noel; Bruckert, Eric; Gallo, Antonio; Valero, René; Mourre, Florian; Aouchiche, Karine; Reynaud, Rachel; Tounian, Patrick; Lemale, Julie; Boccara, Franck; Moulin, Philippe; Charrières, Sybil; Di Filippo, Mathilde; Cariou, Bertrand; Paillard, François; Dourmap, Caroline; Pradignac, Alain; Verges, Bruno; Simoneau, Isabelle; Farnier, Michel; Cottin, Yves; Yelnik, Cecile; Hankard, Regis; Schiele, François; Durlach, Vincent; Sultan, Ariane; Carrié, Alain; Rabès, Jean-Pierre; Sanin, Veronika; Schmieder, Roland; Ates, Sara; Rizos, Christos V.; Skoumas, Ioannis; Tziomalos, Konstantinos; Rallidis, Loukianos; Kotsis, Vasileios; Doumas, Michalis; Skalidis, Emmanouil; Kolovou, Genovefa; Kolovou, Vana; Garoufi, Anastasia; Koutagiar, Iosif; Polychronopoulos, Georgios; Kiouri, Estela; Antza, Christina; Zacharis, Evangelos; Attilakos, Achilleas; Sfikas, George; Koumaras, Charalambos; Anagnostis, Panagiotis; Anastasiou, Georgia; Liamis, George; Adamidis, Petros-Spyridon; Milionis, Haralambos; Lambadiari, Vaia; Stabouli, Stella; Filippatos, Theodosios; Mollaki, Vicky; Tsaroumi, Anastasia; Lamari, Frida; Proyias, Pavlos; Harangi, Mariann; Reddy, Lakshmi Lavanya; Shah, Swarup A. V; Ponde, Chandrashekhar K.; Dalal, Jamshed J.; Sawhney, Jitendra P. S.; Verma, Ishwar C.; Hosseini, Susan; Jamialahmadi, Tannaz; Alareedh, Mohammed; Shaghee, Foaad; Rhadi, Sabah Hasan; Abduljalal, Maryam; Alfil, Sarmad; Kareem, Huda; Cohen, Hofit; Leitersdorf, Eran; Schurr, Daniel; Shpitzen, Shoshi; Arca, Marcello; Averna, Maurizio; Bertolini, Stefano; Calandra, Sebastiano; Tarugi, Patrizia; Casula, Manuela; Galimberti, Federica; Gazzotti, Marta; Olmastroni, Elena; Sarzani, Riccardo; Ferri, Claudio; Repetti, Elena; Giorgino, Francesco; Suppressa, Patrizia; Bossi, Antonio Carlo; Borghi, Claudio; Muntoni, Sandro; Cipollone, Francesco; Scicali, Roberto; Pujia, Arturo; Passaro, Angelina; Berteotti, Martina; Pecchioli, Valerio; Pisciotta, Livia; Mandraffino, Giuseppe; Pellegatta, Fabio; Mombelli, Giuliana; Branchi, Adriana; Fiorenza, Anna Maria; Pederiva, Cristina; Werba, José Pablo; Parati, Gianfranco; Nascimbeni, Fabio; Iughetti, Lorenzo; Fortunato, Giuliana; Cavallaro, Raimondo; Iannuzzo, Gabriella; Calabrò, Paolo; Cefalu', Angelo Baldassare; Capra, Maria Elena; Zambon, Alberto; Pirro, Matteo; Sbrana, Francesco; Trenti, Chiara; Minicocci, Ilenia; Federici, Massimo; Del Ben, Maria; Buonuomo, Paola Sabrina; Moffa, Simona; Pipolo, Antonio; Citroni, Nadia; Guardamagna, Ornella; Lia, Salvatore; Benso, Andrea; Biolo, Gianni Biolo; Maroni, Lorenzo; Lupi, Alessandro; Bonanni, Luca; Rinaldi, Elisabetta; Zenti, Maria Grazia; Masuda, Daisaku; Mahfouz, Linda; Jambart, Selim; Ayoub, Carine; Ghaleb, Youmna; Kasim, Noor Alicezah Mohd; Nor, Noor Shafina Mohd; Al-Khateeb, Alyaa; Kadir, Siti Hamimah Sheikh Abdul; Chua, Yung-An; Razman, Aimi Zafira; Nazli, Sukma Azureen; Ranai, Norashikin Mohd; Latif, Ahmad Zubaidi Abd; Torres, María Teresa Magaña; Mehta, Roopa; Martagon, Alexandro J.; Ramirez, Gabriela A. Galan; Antonio-Villa, Neftali Eduardo; Vargas-Vazquez, Arsenio; Elias-Lopez, Daniel; Retana, Gustavo Gonzalez; Encinas, Bethsabel Rodriguez; Macias, Jose J. Ceballos; Zazueta, Alejandro Romero; Alvarado, Rocio Martinez; Portano, Julieta D. Morales; Lopez, Humberto Alvares; Sauque-Reyna, Leobardo; Gomez Herrera, Laura G.; Simental Mendia, Luis E.; Aguilar, Humberto Garcia; Cooremans, Elizabeth Ramirez; Aparicio, Berenice Pe~na; Zubieta, Victoria Mendoza; Gonzalez, Perla A. Carrillo; Ferreira-Hermosillo, Aldo; Portilla, Nacu Caracas; Dominguez, Guadalupe Jimenez; Garcia, Alinna Y. Ruiz; Arriaga Cazares, Hector E.; Gonzalez Gonzalez, Jesus R.; Mendez Valencia, Carla V.; Padilla Padilla, Francisco G.; Prado, Ramon Madriz; De los Rios Ibarra, Manuel O.; Arjona Villica~na, Ruy D.; Acevedo Rivera, Karina J.; Carrera, Ricardo Allende; Alvarez, Jose A.; Amezcua Martinez, Jose C.; Barrera Bustillo, Manuel de los Reyes; Vargas, Gonzalo Carazo; Chacon, Roberto Contreras; Figueroa Andrade, Mario H.; Ortega, Ashanty Flores; Alcala, Hector Garcia; Garcia de Leon, Laura E.; Guzman, Berenice Garcia; Gardu~no Garcia, Jose J.; Garnica Cuellar, Juan C.; Gomez Cruz, Jose R.; Garcia, Anell Hernandez; Holguin Almada, Jesus R.; Herrera, Ursulo Juarez; Sobrevilla, Fabiola Lugo; Rodriguez, Eduardo Marquez; Sibaja, Cristina Martinez; Medrano Rodriguez, Alma B.; Morales Oyervides, Jose C.; Perez Vazquez, Daniel I.; Reyes Rodriguez, Eduardo A.; Osorio, Ma. Ludivina Robles; Saucedo, Juan Rosas; Tamayo, Margarita Torres; Valdez Talavera, Luis A.; Vera Arroyo, Luis E.; Zepeda Carrillo, Eloy A.; Galema-Boers, Annette; Weigman, Albert; Bogsrud, Martin P.; Malik, Munir; Shah, Saeedullah; Khan, Sabeen Abid; Rana, Muhammad Asim; Batool, Hijab; Starostecka, Ewa; Konopka, Agnieszka; Lewek, Joanna; Bielecka-Dąbrowa, Agata; Gach, Agnieszka; Jóźwiak, Jacek; Pajkowski, Marcin; Romanowska-Kocejko, Marzena; Żarczyńska-Buchowiecka, Marta; Hellman, Marcin; Chmara, Magdalena; Wasąg, Bartosz; Parczewska, Aleksandra; Gilis-Malinowska, Natasza; Borowiec-Wolna, Justyna; Stróżyk, Aneta; Michalska-Grzonkowska, Aleksandra; Chlebus, Izabela; Kleinschmidt, Mariola; Wojtecka, Agnieszka; Zdrojewski, Tomasz; Myśliwiec, Małgorzata; Hennig, Matylda; Medeiros, Ana Margarida; Alves, Ana Catarina; Almeida, Ana Filipa; Lopes, Andreia; Guerra, António; Bilhoto, Carla; Simões, Fernando; Silva, Francisco; Lobarinhas, Goreti; Gama, Guida; Palma, Isabel; Salgado, José Miguel; Matos, Luísa Diogo; Moura, Márcio de; Virtuoso, Maria João; Tavares, Mónica; Ferreira, Patrícia; Pais, Patrícia; Garcia, Paula; Coelho, Raquel; Ribeiro, Raquel; Correia, Susana; Sadykova, Dinara; Slastnikova, Evgenia; Alammari, Dalal; Mawlawi, Horia Ahmed; Alsahari, Atif; Khudary, Alia Abdullah; Alrowaily, Nawal Lafi; Rajkovic, Natasa; Popovic, Ljiljana; Singh, Sandra; Rasulic, Iva; Petakov, Ana; Lalic, Nebojsa M.; Peng, Fabian Kok; Vasanwala, Rashida Farhan; Venkatesh, Sreedharan Aravind; Raslova, Katarina; Fabryova, Lubomira; Nociar, Jan; Šaligova, Jana; Potočňáková, Ludmila; Kozárová, Miriam; Varga, Tibor; Kadurova, Michaela; Debreova, Marianna; Novodvorsky, Peter; Gonova, Katarina; Klabnik, Alexander; Buganova, Ingrid; Battelino, Tadej; Bizjan, Barbara Jenko; Debeljak, Marusa; Kovac, Jernej; Mlinaric, Matej; Molk, Neza; Sikonja, Jaka; Sustar, Ursa; Podkrajsek, Katarina Trebusak; Muñiz-Grijalvo, Ovidio; Díaz-Díaz, Jose Luis; de Andrés, Raimundo; Fuentes-Jiménez, Francisco; Blom, Dirk; Miserez, Eleonore B.; Shipton, Janine L.; Ganokroj, Poranee; Futema, Marta; Ramaswami, Uma; Alieva, Rano B.; Fozilov, Khurshid G.; Khoshimov, Shavkat U.; Nizamov, Ulugbek I.; Abdullaeva, Guzal J.; Kan, Liliya E.; Abdullaev, Alisher A.; Zakirova, Daria V.; Do, Doan-Loi; Nguyen, Mai-Ngoc-Thi; Kim, Ngoc-Thanh; Le, Thanh-Tung; Le, Hong-An; Santos, Raul; Ray, Kausik K. |
| Contributors: |
Dharmayat, Kanika Inamdar; Vallejo-Vaz, Antonio J.; Stevens, Christophe A.T.; Brandts, Julia M.; Lyons, Alexander R.M.; Groselj, Urh; Abifadel, Marianne; Aguilar-Salinas, Carlos A.; Alhabib, Khalid; Alkhnifsawi, Mutaz; Almahmeed, Wael; Alnouri, Fahad; Alonso, Rodrigo; Al-Rasadi, Khalid; Ashavaid, Tester F.; Banach, Maciej; Béliard, Sophie; Binder, Christoph; Bourbon, Mafalda; Chlebus, Krzysztof; Corral, Pablo; Cruz, Diogo; Descamps, Olivier S.; Drogari, Euridiki; Durst, Ronen; Ezhov, Marat V.; Genest, Jacque; Harada-Shiba, Mariko; Holven, Kirsten B.; Humphries, Steve E.; Khovidhunkit, Weerapan; Lalic, Katarina; Laufs, Ulrich; Liberopoulos, Evangelo; Roeters van Lennep, Jeanine; Lima-Martinez, Marcos Miguel; Lin, Jie; Maher, Vincent; März, Winfried; Miserez, André R.; Mitchenko, Olena; Nawawi, Hapizah; Panayiotou, Andrie G.; Paragh, György; Postadzhiyan, Arman; Reda, Ashraf; Reiner, Željko; Reyes, Ximena; Sadiq, Fouzia; Sahebkar, Amirhossein; Schunkert, Heribert; Shek, Aleksandr B.; Stroes, Eric; Su, Ta-Chen; Subramaniam, Tavintharan; Susekov, Andrey; Vázquez Cárdenas, Alejandra; Huong Truong, Thanh; Tselepis, Alexandros D.; Vohnout, Branislav; Wang, Luya; Yamashita, Shizuya; Al-Sarraf, Ahmad; Al-Sayed, Nasreen; Davletov, Kairat; Dwiputra, Bambang; Gaita, Dan; Kayikcioglu, Meral; Latkovskis, Gustav; Marais, A. David; Thushara Matthias, Anne; Mirrakhimov, Erkin; Nordestgaard, Børge G.; Petrulioniene, Zaneta; Pojskic, Belma; Sadoh, Wilson; Tilney, Myra; Tomlinson, Brian; Tybjærg-Hansen, Anne; Viigimaa, Margu; Catapano, Alberico L.; Freiberger, Toma; Hovingh, G. Kee; Mata, Pedro; Soran, Handrean; Raal, Frederick; Watts, Gerald F.; Schreier, Laura; Bañares, Virginia; Greber-Platzer, Susanne; Baumgartner-Kaut, Margot; de Gier, Charlotte; Dieplinger, Han; Höllerl, Florian; Innerhofer, Reinhold; Karall, Daniela; Lischka, Julia; Ludvik, Bernhard; Mäser, Martin; Scholl-Bürgi, Sabine |
| Publication Year: |
2024 |
| Collection: |
IRIS Università degli Studi di Palermo |
| Subject Terms: |
Familial hypercholesterolaemia; children; adolescents; cross-sectional study |
| Description: |
Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data ... |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/38101429; info:eu-repo/semantics/altIdentifier/wos/WOS:001161858100001; volume:403; issue:10421; firstpage:55; lastpage:66; numberofpages:12; journal:THE LANCET; https://hdl.handle.net/10447/620550 |
| DOI: |
10.1016/S0140-6736(23)01842-1 |
| Availability: |
https://hdl.handle.net/10447/620550; https://doi.org/10.1016/S0140-6736(23)01842-1 |
| Rights: |
info:eu-repo/semantics/openAccess |
| Accession Number: |
edsbas.B7D4C19 |
| Database: |
BASE |