{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T10:38:01Z","timestamp":1787654281096,"version":"build-2736575974"},"reference-count":6,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T00:00:00Z","timestamp":1736899200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001774","name":"University of Sydney","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001774","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Sitosterolemia, is a disorder of increased plant sterol levels leading to a variable presentation and haematological manifestations. Although considered rare, the prevalence is likely underestimated due to the variable phenotype and challenges in diagnosis. The delayed diagnosis may lead to cardiovascular complications. We reviewed the presentation and management of patients with sitosterolemia in our clinic.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>We report 4 children aged 18\u2009months to 18\u2009years with variable manifestations from xanthomas to haemolytic anaemia who were subsequently confirmed to have sitosterolemia on genetic testing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>One patient presented with xanthomas, two patients with haematological manifestations and the other with an abnormal lipid profile. All patients had a strong family history of lipid disorders and cardiovascular disease at a young age. All patients had confirmatory genetic testing and were managed with dietary adjustments and ezetimibe resulting in improvement of lipid and haematological profiles.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Sitosterolemia is a likely underdiagnosed lipid disorder due to variable phenotype and specialised genetic and biochemical diagnostic tests. Early diagnosis and treatment fully reverse the clinical manifestations and associated complications.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jpc.16778","type":"journal-article","created":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T00:24:58Z","timestamp":1736987098000},"page":"635-638","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Sitosterolemia\u2014An Underdiagnosed and Heterogeneous Lipid Disorder. A Case Series From a Tertiary Care Centre in Australia"],"prefix":"10.1111","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5413-116X","authenticated-orcid":false,"given":"Dilhara","family":"Gamage","sequence":"first","affiliation":[{"name":"Institute of Endocrinology and Diabetes The Children's Hospital at Westmead  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerryn","family":"Chisholm","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Dietetics The Children's Hospital at Westmead  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatjana","family":"Kilo","sequence":"additional","affiliation":[{"name":"Department of Hematology The Children's Hospital at Westmead  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siew Ean","family":"Ooi","sequence":"additional","affiliation":[{"name":"Department of Hematology The Children's Hospital at Westmead  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shubha","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Institute of Endocrinology and Diabetes The Children's Hospital at Westmead  Sydney New South Wales Australia"},{"name":"Specialty of Child and Adolescent Health, Faculty of Medicine The University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,1,15]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.6065\/apem.2016.21.1.7"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.5551\/jat.RV17052"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1155\/2023\/4451595"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.5551\/jat.RV17024"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3274"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.119.002871"}],"container-title":["Journal of Paediatrics and Child Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jpc.16778","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T00:15:14Z","timestamp":1744848914000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jpc.16778"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,15]]},"references-count":6,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1111\/jpc.16778"],"URL":"https:\/\/doi.org\/10.1111\/jpc.16778","archive":["Portico"],"relation":{},"ISSN":["1034-4810","1440-1754"],"issn-type":[{"value":"1034-4810","type":"print"},{"value":"1440-1754","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,15]]},"assertion":[{"value":"2024-07-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}