{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T01:11:54Z","timestamp":1793927514959,"version":"4.8.0"},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"48","license":[{"start":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T00:00:00Z","timestamp":1761177600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006095","name":"South-Eastern Norway Regional Health Authority","doi-asserted-by":"publisher","award":["2020058"],"award-info":[{"award-number":["2020058"]}],"id":[{"id":"10.13039\/501100006095","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Aims<\/jats:title>\n                    <jats:p>Cholesterol screening in children, with subsequent genetic testing of top percentile, has been suggested as an efficient universal screening approach in familial hypercholesterolaemia (FH). The potential cholesterol-based screening efficacy was investigated in a national genetically based screening programme.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Data were from the Norwegian national family cascade screening programme in FH children from 1998 to 2023. Cholesterol levels [umbilical cord in newborns (n = 113) and venous blood in children 1\u201312 years old (n = 1346)] in variant positive and variant negative children were compared.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>LDL cholesterol (LDL-C) was higher in FH newborns vs non-FH newborns [1.22 (.48) vs .68 (.32) mmol\/L, P &amp;lt; .001], but overlapped widely. Cut-off levels corresponding to the 95th and 85th percentile would only identify 55.7% and 75.4% of newborns with FH, respectively. Screening efficacy in newborns did not differ in subgroups: boys and girls, null and non-null variants, variant gene, and neither for total cholesterol nor for non-HDL cholesterol. In all other age groups (from 1 to 12 years), LDL-C discriminated highly between mutation FH and non-FH children. Cut-off levels corresponding to 95th and 85th percentile of LDL-C would identify 88.4% and 94.1% of 1\u201312-year-old children with FH, respectively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Previous studies investigating lipid or genetic screening approaches for FH have limitations of only performing genetic testing in children with high LDL-C levels. The present study is the first to show the true LDL-C overlap in children with FH vs non-FH by utilizing unique data from a national family cascade screening programme. Cholesterol-based screening approaches for FH only seem feasible from 1 year of age onward.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/eurheartj\/ehaf815","type":"journal-article","created":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T11:31:00Z","timestamp":1759750260000},"page":"5261-5269","source":"Crossref","is-referenced-by-count":17,"title":["LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening"],"prefix":"10.1093","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2321-2490","authenticated-orcid":false,"given":"Martin Pr\u00f8ven","family":"Bogsrud","sequence":"first","affiliation":[{"name":"Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital , P.O. Box 4950 Nydalen, NO-0484 Oslo ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-4091-1752","authenticated-orcid":false,"given":"Tonje Talsnes","family":"Stava","sequence":"additional","affiliation":[{"name":"Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital , P.O. Box 4950 Nydalen, NO-0484 Oslo ,","place":["Norway"]},{"name":"Department of Nutrition, Faculty of Medicine, University of Oslo , Oslo ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-4153-6792","authenticated-orcid":false,"given":"Knut Erik","family":"Berge","sequence":"additional","affiliation":[{"name":"Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital , P.O. Box 4950 Nydalen, NO-0484 Oslo ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6636-9834","authenticated-orcid":false,"given":"Thea Bismo","family":"Str\u00f8m","sequence":"additional","affiliation":[{"name":"Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital , P.O. Box 4950 Nydalen, NO-0484 Oslo ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1309-7556","authenticated-orcid":false,"given":"Kjetil","family":"Retterst\u00f8l","sequence":"additional","affiliation":[{"name":"Department of Nutrition, Faculty of Medicine, University of Oslo , Oslo ,","place":["Norway"]},{"name":"Lipid Clinic, Oslo University Hospital , Oslo ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8674-9703","authenticated-orcid":false,"given":"Kirsten B","family":"Holven","sequence":"additional","affiliation":[{"name":"Department of Nutrition, Faculty of Medicine, University of Oslo , Oslo ,","place":["Norway"]},{"name":"Norwegian National Network on Familial Hypercholesterolemia, Oslo University Hospital , Oslo 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