{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T11:51:19Z","timestamp":1788522679279,"version":"build-2803163510"},"reference-count":39,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2025,7,9]],"date-time":"2025-07-09T00:00:00Z","timestamp":1752019200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Bavarian State Ministry of Health and Care","award":["DMB-1805\u20130001"],"award-info":[{"award-number":["DMB-1805\u20130001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>The study aimed to assess the effectiveness of three clinical diagnostic criteria [Simon Broome (SB), MEDPED (MP), and guideline-derived (GL-EAS)] in identifying children with familial hypercholesterolaemia (FH) compared with genetic testing. The evaluation involved 1337 children with elevated LDL cholesterol (LDL-C) levels, focusing on the sensitivity and specificity of these clinical scores in detecting genetically confirmed FH cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>Clinical data were gathered by a self-reporting questionnaire. Clinical FH was defined in accordance with the tested FH score. Genetically confirmed heterozygous FH (HeFH) was defined by a (likely) pathogenic variant. Of the 1337 children undergoing genetic analysis, 211 showed a pathogenic FH mutation. Applying SB, MP, and GL-EAS criteria resulted in 210\/1337, 125\/1337, and 112\/835 children being categorized to have FH clinically. The sensitivity of the clinical scores ranged from 0.44 to 0.54 with a positive predictive value (PPV) of 0.51\u20130.79. The specificity was 0.91\u20130.97 with a negative predictive value (NPV) of 0.89\u20130.91. Similar results were observed for the three clinical scores regarding sensitivity, specificity, PPV, and NPV in subgroup analyses defined by gender, age (&amp;lt;10 years vs. \u226510 years), or weight [\u226590th BMI (body mass index) percentile vs. &amp;lt;90th BMI percentile].<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Clinical FH scores offer a high degree of specificity for FH diagnosis in children, but at the expense of low sensitivity. Specifically, half of the mutation-positive children in this study would have been missed for early diagnosis and preventive treatment. Given the widespread availability of affordable genetic testing, such analysis should be performed at a lower threshold than that indicated by these clinical scores.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/eurjpc\/zwaf301","type":"journal-article","created":{"date-parts":[[2025,6,11]],"date-time":"2025-06-11T07:53:23Z","timestamp":1749628403000},"page":"361-369","source":"Crossref","is-referenced-by-count":12,"title":["Clinical scores fail to sufficiently identify children with familial hypercholesterolaemia"],"prefix":"10.1093","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9688-3551","authenticated-orcid":false,"given":"Raphael S","family":"Schmieder","sequence":"first","affiliation":[{"name":"Department of Cardiology, Deutsches Herzzentrum M\u00fcnchen, Klinikum der Technischen Universit\u00e4t M\u00fcnchen, German Heart Center Munich, Klinik f\u00fcr Herz- und Kreislauferkrankungen , Lazarettstr. 36, Munich D-80636 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