{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:33:48Z","timestamp":1791894828398,"version":"4.3.4"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2025,6,20]],"date-time":"2025-06-20T00:00:00Z","timestamp":1750377600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004329","name":"Slovenian Research and Innovation Agency","doi-asserted-by":"publisher","award":["P3-0343"],"award-info":[{"award-number":["P3-0343"]}],"id":[{"id":"10.13039\/501100004329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004329","name":"Slovenian Research and Innovation Agency","doi-asserted-by":"publisher","award":["J3-2536"],"award-info":[{"award-number":["J3-2536"]}],"id":[{"id":"10.13039\/501100004329","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Science and Technology Foundation"},{"DOI":"10.13039\/501100019191","name":"Portuguese Cardiology Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019191","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019179","name":"\u2018la Caixa\u2019 Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019179","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Funda\u00e7\u00e3o para a Ci\u00eancia e Tecnologia","award":["LCF\/PR\/HP23\/52330032"],"award-info":[{"award-number":["LCF\/PR\/HP23\/52330032"]}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["PG 08\/008"],"award-info":[{"award-number":["PG 08\/008"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Institute for Health Research University College London Hospitals Biomedical Research Centre"},{"name":"National Institute for Research of Metabolic and Cardiovascular Diseases","award":["LX22NPO5104"],"award-info":[{"award-number":["LX22NPO5104"]}]},{"DOI":"10.13039\/100031478","name":"European Union\u2014Next Generation EU","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100031478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,14]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Familial hypercholesterolemia (FH) significantly increases cardiovascular risk from childhood yet remains widely underdiagnosed. This cross-sectional study aimed to evaluate existing paediatric FH diagnostic criteria in real-world cohorts and to develop two novel diagnostic tools: a semi-quantitative scoring system (FH-PeDS) and a machine learning model (ML-FH-PeDS) to enhance early FH detection.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>Five established FH diagnostic criteria were assessed (Dutch Lipid Clinics Network [DLCN], Simon Broome, EAS, Simplified Canadian, and Japanese Atherosclerosis Society) in Slovenian (N = 1360) and Portuguese (N = 340) paediatric hypercholesterolemia cohorts, using FH-causing variants as the reference standard. FH-PeDS was developed from the Slovenian cohort, and ML-FH-PeDS was trained and tested using a 60%\/40% split before external validation in the Portuguese cohort. Only 47.4% of genetically confirmed FH cases were identified by all established criteria, while 10.9% were missed entirely. FH-PeDS outperformed DLCN in the combined cohort (AUC 0.897 vs. 0.857; P &amp;lt; 0.01). ML-FH-PeDS showed superior predictive power (AUC 0.932 in training, 0.904 in testing vs. 0.852 for DLCN; P &amp;lt; 0.01) and performed best as a confirmatory test in the testing subgroup (39.7% sensitivity, 87.7% PPV at 98% specificity). In the Portuguese cohort, ML-FH-PeDS maintained strong predictive performance (AUC 0.867 vs. 0.815 for DLCN; P &amp;lt; 0.01) despite population differences.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Current FH diagnostic criteria perform sub-optimally in children. FH-PeDS and ML-FH-PeDS provide tools to improve FH detection, particularly where genetic testing is limited. They also help guide genetic testing decisions for hypercholesterolemic children. By enabling earlier diagnosis and intervention, these tools may reduce long-term cardiovascular risk and improve outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/eurjpc\/zwaf352","type":"journal-article","created":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T07:55:16Z","timestamp":1750319716000},"page":"1572-1584","source":"Crossref","is-referenced-by-count":21,"title":["Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)"],"prefix":"10.1093","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-4159-1783","authenticated-orcid":false,"given":"Jan","family":"Kafol","sequence":"first","affiliation":[{"name":"Faculty of Medicine, University of Ljubljana , Vrazov trg 2, Ljubljana 1000 ,","place":["Slovenia"]},{"name":"Department of Vascular Diseases, Division of Internal Medicine, University Medical Centre Ljubljana , Ljubljana 1000 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Vrazov trg 2, Ljubljana 1000 ,","place":["Slovenia"]},{"name":"Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children\u2019s Hospital, University Medical Centre Ljubljana , Bohoriceva 20, Ljubljana 1000 ,","place":["Slovenia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8221-6547","authenticated-orcid":false,"given":"Steve E","family":"Humphries","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Science, Faculty of Population Health, University College London , London WC1E 6BT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8843-3799","authenticated-orcid":false,"given":"Mafalda","family":"Bourbon","sequence":"additional","affiliation":[{"name":"Grupo de Investiga\u00e7\u00e3o Cardiovascular, Unidade I&D Departamento de Promo\u00e7\u00e3o da Sa\u00fade e Doen\u00e7as Cr\u00f3nicas, Instituto Nacional de Sa\u00fade 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