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Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

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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 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

Year of publication 2024
Type Article in Periodical
Magazine / Source Lancet
MU Faculty or unit

Faculty of Medicine

Citation
Web https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(23)01842-1/fulltext
Doi http://dx.doi.org/10.1016/S0140-6736(23)01842-1
Keywords familial hypercholesterolaemia;
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Description 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.
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