Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
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DHARMAYAT, Kanika Inamdar, Antonio J VALLEJO-VAZ, Christophe A T STEVENS, Julia M BRANDTS, Alexander R M LYONS, Urh GROSELJ, Marianne ABIFADEL, Carlos A AGUILAR-SALINAS, Khalid ALHABIB, Mutaz ALKHNIFSAWI, Wael ALMAHMEED, Fahad ALNOURI, Rodrigo ALONSO, Khalid AL-RASADI, Tester F ASHAVAID, Maciej BANACH, Sophie BELIARD, Christoph BINDER, Mafalda BOURBON, Krzysztof CHLEBUS, Pablo CORRAL, Diogo CRUZ, Olivier S DESCAMPS, Euridiki DROGARI, Ronen DURST, Marat V EZHOV, Jacques GENEST, Mariko HARADA-SHIBA, Kirsten B HOLVEN, Steve E HUMPHRIES, Weerapan KHOVIDHUNKIT, Katarina LALIC, Ulrich LAUFS, Evangelos LIBEROPOULOS, Jeanine Roeters van LENNEP, Marcos Miguel LIMA-MARTINEZ, Jie LIN, Vincent MAHER, Winfried MAERZ, Andre R MISEREZ, Olena MITCHENKO, Hapizah NAWAWI, Andrie G PANAYIOTOU, Gyoergy PARAGH, Arman POSTADZHIYAN, Ashraf REDA, Zeljko REINER, Ximena REYES, Fouzia SADIQ, Amirhossein SAHEBKAR, Heribert SCHUNKERT, Aleksandr B SHEK, Eric STROES, Ta-Chen SU, Tavintharan SUBRAMANIAM, Andrey SUSEKOV, Alejandra Vazquez CARDENAS, Thanh Huong TRUONG, Alexandros TSELEPIS, Branislav VOHNOUT, Luya WANG, Shizuya YAMASHITA, Ahmad AL-SARRAF, Nasreen AL-SAYED, Kairat DAVLETOV, Bambang DWIPUTRA, Dan GAITA, Meral KAYIKCIOGLU, Gustavs LATKOVSKIS, A David MARAIS, Anne Thushara MATTHIAS, Erkin MIRRAKHIMOV, Borge G NORDESTGAARD, Zaneta PETRULIONIENE, Belma POJSKIC, Wilson SADOH, Myra TILNEY, Brian TOMLINSON, Anne TYBJAERG-HANSEN, Margus VIIGIMAA, Alberico L CATAPANO, Tomáš FREIBERGER, G Kees HOVINGH, Pedro MATA, Handrean SORAN, Frederick RAAL, Gerald F WATTS, Laura SCHREIER, Virginia BANARES, Susanne GREBER-PLATZER, Margot BAUMGARTNER-KAUT, de Gier CHARLOTTE, Hans DIEPLINGER, Florian HOELLERL, Reinhold INNERHOFER, Daniela KARALL, Julia LISCHKA, Bernhard LUDVIK, Martin MAESER, Sabine SCHOLL-BUERGI, Alexandra THAJER, Hermann TOPLAK, Fabian DEMEURE, Ann MERTENS, Jean-Luc BALLIGAND, Xavier STEPHENNE, Etienne SOKAL, Ivo PETROV, Assen GOUDEV, Fedya NIKOLOV, Snejana TISHEVA, Yoto YOTOV, Ivajlo TZVETKOV, Robert A HEGELE, Daniel GAUDET, Liam BRUNHAM, Isabelle RUEL, Brian MCCRINDLE, Ada CUEVAS, Drazen PERICA, Phivos SYMEONIDES, Efstratios TROGKANIS, Andreas KOSTIS, Andreas IOANNOU, Angeliki MOUZAROU, Anthoula GEORGIOU, Andreas STYLIANOU, George MILTIADOUS, Paris IACOVIDES, Constantinos DELTAS, Michal VRABLIK, Zuzana URBANOVA, Pavel JESINA, Lukas TICHY, Josef HYANEK, Jana DVORAKOVA, Jana CEPOVA, Josef SYKORA, Kristyna BURESOVA, Michal PIPEK, Eva PISTKOVA, Ivana BARTKOVA, Astrid S ULAKOVA, Lenka TOUKALKOVA, Michaela SPENEROVA, Jan MALY, Marianne BENN, Ahmed BENDARY, Atef ELBAHRY, Jean FERRIERES, Dorota FERRIERES, Noel PERETTI, Eric BRUCKERT, Antonio GALLO, Rene VALERO, Florian MOURRE, Karine AOUCHICHE, Rachel REYNAUD, Patrick TOUNIAN, Julie LEMALE, Franck BOCCARA, Philippe MOULIN, Sybil CHARRIERES, Di Filippo MATHILDE, Bertrand CARIOU, Francois PAILLARD, Caroline DOURMAP, Alain PRADIGNAC, Bruno VERGES, Isabelle SIMONEAU, Michel FARNIER, Yves COTTIN, Cecile YELNIK, Regis HANKARD, Francois SCHIELE, Vincent DURLACH, Ariane SULTAN, Alain CARRIE, Jean-Pierre RABES, Veronika SANIN, Roland SCHMIEDER, Sara ATES, Christos V RIZOS, Ioannis SKOUMAS, Konstantinos TZIOMALOS, Loukianos RALLIDIS, Vasileios KOTSIS, Michalis DOUMAS, Emmanouil SKALIDIS, Genovefa KOLOVOU, Vana KOLOVOU, Anastasia GAROUFI, Iosif KOUTAGIAR, Georgios POLYCHRONOPOULOS, Estela KIOURI, Christina ANTZA, Evangelos ZACHARIS, Achilleas ATTILAKOS, George SFIKAS, Charalambos KOUMARAS, Panagiotis ANAGNOSTIS, Georgia ANASTASIOU a George LIAMIS
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Lancet, NEW YORK, ELSEVIER SCIENCE INC, 2024, 0140-6736
Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 21% 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 130 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 (188%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (502%) of 11 476 included individuals were female and 5720 (498%) were male. Sex data were missing for 372 (31%) of 11 848 individuals. Median age at registry entry was 96 years (IQR 58-132). 10 099 (899%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (101%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (52%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [924%] of 10 202) than in children and adolescents from non-high-income countries (199 [480%] of 415). 3414 (316%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (724%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 500 mmol/L (IQR 405-608). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation.
DHARMAYAT, Kanika Inamdar, Antonio J VALLEJO-VAZ, Christophe A T STEVENS, Julia M BRANDTS, Alexander R M LYONS, Urh GROSELJ, Marianne ABIFADEL, Carlos A AGUILAR-SALINAS, Khalid ALHABIB, Mutaz ALKHNIFSAWI, Wael ALMAHMEED, Fahad ALNOURI, Rodrigo ALONSO, Khalid AL-RASADI, Tester F ASHAVAID, Maciej BANACH, Sophie BELIARD, Christoph BINDER, Mafalda BOURBON, Krzysztof CHLEBUS, Pablo CORRAL, Diogo CRUZ, Olivier S DESCAMPS, Euridiki DROGARI, Ronen DURST, Marat V EZHOV, Jacques GENEST, Mariko HARADA-SHIBA, Kirsten B HOLVEN, Steve E HUMPHRIES, Weerapan KHOVIDHUNKIT, Katarina LALIC, Ulrich LAUFS, Evangelos LIBEROPOULOS, Jeanine Roeters van LENNEP, Marcos Miguel LIMA-MARTINEZ, Jie LIN, Vincent MAHER, Winfried MAERZ, Andre R MISEREZ, Olena MITCHENKO, Hapizah NAWAWI, Andrie G PANAYIOTOU, Gyoergy PARAGH, Arman POSTADZHIYAN, Ashraf REDA, Zeljko REINER, Ximena REYES, Fouzia SADIQ, Amirhossein SAHEBKAR, Heribert SCHUNKERT, Aleksandr B SHEK, Eric STROES, Ta-Chen SU, Tavintharan SUBRAMANIAM, Andrey SUSEKOV, Alejandra Vazquez CARDENAS, Thanh Huong TRUONG, Alexandros TSELEPIS, Branislav VOHNOUT, Luya WANG, Shizuya YAMASHITA, Ahmad AL-SARRAF, Nasreen AL-SAYED, Kairat DAVLETOV, Bambang DWIPUTRA, Dan GAITA, Meral KAYIKCIOGLU, Gustavs LATKOVSKIS, A David MARAIS, Anne Thushara MATTHIAS, Erkin MIRRAKHIMOV, Borge G NORDESTGAARD, Zaneta PETRULIONIENE, Belma POJSKIC, Wilson SADOH, Myra TILNEY, Brian TOMLINSON, Anne TYBJAERG-HANSEN, Margus VIIGIMAA, Alberico L CATAPANO, Tomáš FREIBERGER, G Kees HOVINGH, Pedro MATA, Handrean SORAN, Frederick RAAL, Gerald F WATTS, Laura SCHREIER, Virginia BANARES, Susanne GREBER-PLATZER, Margot BAUMGARTNER-KAUT, de Gier CHARLOTTE, Hans DIEPLINGER, Florian HOELLERL, Reinhold INNERHOFER, Daniela KARALL, Julia LISCHKA, Bernhard LUDVIK, Martin MAESER, Sabine SCHOLL-BUERGI, Alexandra THAJER, Hermann TOPLAK, Fabian DEMEURE, Ann MERTENS, Jean-Luc BALLIGAND, Xavier STEPHENNE, Etienne SOKAL, Ivo PETROV, Assen GOUDEV, Fedya NIKOLOV, Snejana TISHEVA, Yoto YOTOV, Ivajlo TZVETKOV, Robert A HEGELE, Daniel GAUDET, Liam BRUNHAM, Isabelle RUEL, Brian MCCRINDLE, Ada CUEVAS, Drazen PERICA, Phivos SYMEONIDES, Efstratios TROGKANIS, Andreas KOSTIS, Andreas IOANNOU, Angeliki MOUZAROU, Anthoula GEORGIOU, Andreas STYLIANOU, George MILTIADOUS, Paris IACOVIDES, Constantinos DELTAS, Michal VRABLIK, Zuzana URBANOVA, Pavel JESINA, Lukas TICHY, Josef HYANEK, Jana DVORAKOVA, Jana CEPOVA, Josef SYKORA, Kristyna BURESOVA, Michal PIPEK, Eva PISTKOVA, Ivana BARTKOVA, Astrid S ULAKOVA, Lenka TOUKALKOVA, Michaela SPENEROVA, Jan MALY, Marianne BENN, Ahmed BENDARY, Atef ELBAHRY, Jean FERRIERES, Dorota FERRIERES, Noel PERETTI, Eric BRUCKERT, Antonio GALLO, Rene VALERO, Florian MOURRE, Karine AOUCHICHE, Rachel REYNAUD, Patrick TOUNIAN, Julie LEMALE, Franck BOCCARA, Philippe MOULIN, Sybil CHARRIERES, Di Filippo MATHILDE, Bertrand CARIOU, Francois PAILLARD, Caroline DOURMAP, Alain PRADIGNAC, Bruno VERGES, Isabelle SIMONEAU, Michel FARNIER, Yves COTTIN, Cecile YELNIK, Regis HANKARD, Francois SCHIELE, Vincent DURLACH, Ariane SULTAN, Alain CARRIE, Jean-Pierre RABES, Veronika SANIN, Roland SCHMIEDER, Sara ATES, Christos V RIZOS, Ioannis SKOUMAS, Konstantinos TZIOMALOS, Loukianos RALLIDIS, Vasileios KOTSIS, Michalis DOUMAS, Emmanouil SKALIDIS, Genovefa KOLOVOU, Vana KOLOVOU, Anastasia GAROUFI, Iosif KOUTAGIAR, Georgios POLYCHRONOPOULOS, Estela KIOURI, Christina ANTZA, Evangelos ZACHARIS, Achilleas ATTILAKOS, George SFIKAS, Charalambos KOUMARAS, Panagiotis ANAGNOSTIS, Georgia ANASTASIOU a George LIAMIS. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study. Lancet. NEW YORK: ELSEVIER SCIENCE INC, 2024, roč. 403, č. 10421, s. 55-66. ISSN 0140-6736. Dostupné z: https://dx.doi.org/10.1016/S0140-6736(23)01842-1.
@article{64188, author = {Dharmayat, Kanika Inamdar and VallejoandVaz, Antonio J and Stevens, Christophe A T and Brandts, Julia M and Lyons, Alexander R M and Groselj, Urh and Abifadel, Marianne and AguilarandSalinas, Carlos A and Alhabib, Khalid and Alkhnifsawi, Mutaz and Almahmeed, Wael and Alnouri, Fahad and Alonso, Rodrigo and AlandRasadi, Khalid and Ashavaid, Tester F and Banach, Maciej and Beliard, Sophie and Binder, Christoph and Bourbon, Mafalda and Chlebus, Krzysztof and Corral, Pablo and Cruz, Diogo and Descamps, Olivier S and Drogari, Euridiki and Durst, Ronen and Ezhov, Marat V and Genest, Jacques and HaradaandShiba, Mariko and Holven, Kirsten B and Humphries, Steve E and Khovidhunkit, Weerapan and Lalic, Katarina and Laufs, Ulrich and Liberopoulos, Evangelos and Lennep, Jeanine Roeters van and LimaandMartinez, Marcos Miguel and Lin, Jie and Maher, Vincent and Maerz, Winfried and Miserez, Andre R and Mitchenko, Olena and Nawawi, Hapizah and Panayiotou, Andrie G and Paragh, Gyoergy and Postadzhiyan, Arman and Reda, Ashraf and Reiner, Zeljko and Reyes, Ximena and Sadiq, Fouzia and Sahebkar, Amirhossein and Schunkert, Heribert and Shek, Aleksandr B and Stroes, Eric and Su, TaandChen and Subramaniam, Tavintharan and Susekov, Andrey and Cardenas, Alejandra Vazquez and Truong, Thanh Huong and Tselepis, Alexandros and Vohnout, Branislav and Wang, Luya and Yamashita, Shizuya and AlandSarraf, Ahmad and AlandSayed, Nasreen and Davletov, Kairat and Dwiputra, Bambang and Gaita, Dan and Kayikcioglu, Meral and Latkovskis, Gustavs and Marais, A David and Matthias, Anne Thushara and Mirrakhimov, Erkin and Nordestgaard, Borge G and Petrulioniene, Zaneta and Pojskic, Belma and Sadoh, Wilson and Tilney, Myra and Tomlinson, Brian and TybjaergandHansen, Anne and Viigimaa, Margus and Catapano, Alberico L and Freiberger, Tomáš and Hovingh, G Kees and Mata, Pedro and Soran, Handrean and Raal, Frederick and Watts, Gerald F and Schreier, Laura and Banares, Virginia and GreberandPlatzer, Susanne and BaumgartnerandKaut, Margot and Charlotte, de Gier and Dieplinger, Hans and Hoellerl, Florian and Innerhofer, Reinhold and Karall, Daniela and Lischka, Julia and Ludvik, Bernhard and Maeser, Martin and SchollandBuergi, Sabine and Thajer, Alexandra and Toplak, Hermann and Demeure, Fabian and Mertens, Ann and Balligand, JeanandLuc and Stephenne, Xavier and Sokal, Etienne and Petrov, Ivo and Goudev, Assen and Nikolov, Fedya and Tisheva, Snejana and Yotov, Yoto and Tzvetkov, Ivajlo and Hegele, Robert A and Gaudet, Daniel and Brunham, Liam and Ruel, Isabelle and Mccrindle, Brian and Cuevas, Ada and Perica, Drazen and Symeonides, Phivos and Trogkanis, Efstratios and Kostis, Andreas and Ioannou, Andreas and Mouzarou, Angeliki and Georgiou, Anthoula and Stylianou, Andreas and Miltiadous, George and Iacovides, Paris and Deltas, Constantinos and Vrablik, Michal and Urbanova, Zuzana and Jesina, Pavel and Tichy, Lukas and Hyanek, Josef and Dvorakova, Jana and Cepova, Jana and Sykora, Josef and Buresova, Kristyna and Pipek, Michal and Pistkova, Eva and Bartkova, Ivana and Ulakova, Astrid S and Toukalkova, Lenka and Spenerova, Michaela and Maly, Jan and Benn, Marianne and Bendary, Ahmed and Elbahry, Atef and Ferrieres, Jean and Ferrieres, Dorota and Peretti, Noel and Bruckert, Eric and Gallo, Antonio and Valero, Rene and Mourre, Florian and Aouchiche, Karine and Reynaud, Rachel and Tounian, Patrick and Lemale, Julie and Boccara, Franck and Moulin, Philippe and Charrieres, Sybil and Mathilde, Di Filippo and Cariou, Bertrand and Paillard, Francois and Dourmap, Caroline and Pradignac, Alain and Verges, Bruno and Simoneau, Isabelle and Farnier, Michel and Cottin, Yves and Yelnik, Cecile and Hankard, Regis and Schiele, Francois and Durlach, Vincent and Sultan, Ariane and Carrie, Alain and Rabes, JeanandPierre and Sanin, Veronika and Schmieder, Roland and Ates, Sara and Rizos, Christos V et al.}, article_location = {NEW YORK}, article_number = {10421}, doi = {http://dx.doi.org/10.1016/S0140-6736(23)01842-1}, keywords = {familial hypercholesterolaemia;}, language = {eng}, issn = {0140-6736}, journal = {Lancet}, title = {Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study}, url = {https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(23)01842-1/fulltext}, volume = {403}, year = {2024} }
TY - JOUR ID - 64188 AU - 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 - Beliard, 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 - Lennep, Jeanine Roeters van - Lima-Martinez, Marcos Miguel - Lin, Jie - Maher, Vincent - Maerz, Winfried - Miserez, Andre R - Mitchenko, Olena - Nawawi, Hapizah - Panayiotou, Andrie G - Paragh, Gyoergy - Postadzhiyan, Arman - Reda, Ashraf - Reiner, Zeljko - Reyes, Ximena - Sadiq, Fouzia - Sahebkar, Amirhossein - Schunkert, Heribert - Shek, Aleksandr B - Stroes, Eric - Su, Ta-Chen - Subramaniam, Tavintharan - Susekov, Andrey - Cardenas, Alejandra Vazquez - Truong, Thanh Huong - Tselepis, Alexandros - 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 - Matthias, Anne Thushara - Mirrakhimov, Erkin - Nordestgaard, Borge G - Petrulioniene, Zaneta - Pojskic, Belma - Sadoh, Wilson - Tilney, Myra - Tomlinson, Brian - Tybjaerg-Hansen, Anne - Viigimaa, Margus - Catapano, Alberico L - Freiberger, Tomáš - Hovingh, G Kees - Mata, Pedro - Soran, Handrean - Raal, Frederick - Watts, Gerald F - Schreier, Laura - Banares, Virginia - Greber-Platzer, Susanne - Baumgartner-Kaut, Margot - Charlotte, de Gier - Dieplinger, Hans - Hoellerl, Florian - Innerhofer, Reinhold - Karall, Daniela - Lischka, Julia - Ludvik, Bernhard - Maeser, Martin - Scholl-Buergi, 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, Drazen - 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 - Ulakova, Astrid S - Toukalkova, Lenka - Spenerova, Michaela - Maly, Jan - Benn, Marianne - Bendary, Ahmed - Elbahry, Atef - Ferrieres, Jean - Ferrieres, Dorota - Peretti, Noel - Bruckert, Eric - Gallo, Antonio - Valero, Rene - Mourre, Florian - Aouchiche, Karine - Reynaud, Rachel - Tounian, Patrick - Lemale, Julie - Boccara, Franck - Moulin, Philippe - Charrieres, Sybil - Mathilde, Di Filippo - Cariou, Bertrand - Paillard, Francois - Dourmap, Caroline - Pradignac, Alain - Verges, Bruno - Simoneau, Isabelle - Farnier, Michel - Cottin, Yves - Yelnik, Cecile - Hankard, Regis - Schiele, Francois - Durlach, Vincent - Sultan, Ariane - Carrie, Alain - Rabes, Jean-Pierre - Sanin, Veronika - Schmieder, Roland - Ates, Sara - Rizos, Christos V et al. PY - 2024 TI - Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study JF - Lancet VL - 403 IS - 10421 SP - 55-66 EP - 55-66 PB - ELSEVIER SCIENCE INC SN - 0140-6736 KW - familial hypercholesterolaemia; UR - https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(23)01842-1/fulltext N2 - Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 21% 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 130 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 (188%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (502%) of 11 476 included individuals were female and 5720 (498%) were male. Sex data were missing for 372 (31%) of 11 848 individuals. Median age at registry entry was 96 years (IQR 58-132). 10 099 (899%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (101%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (52%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [924%] of 10 202) than in children and adolescents from non-high-income countries (199 [480%] of 415). 3414 (316%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (724%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 500 mmol/L (IQR 405-608). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. ER -
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