{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T19:18:33Z","timestamp":1771874313667,"version":"3.50.1"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,6,11]],"date-time":"2021-06-11T00:00:00Z","timestamp":1623369600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p><jats:bold>Introduction:<\/jats:bold> Sitosterolemia is a rare condition in children and is often misdiagnosed as familial hypercholesterolemia. Serious complications can result if not treated promptly and effectively. When pediatric patients are diagnosed with sitosterolemia, vascular, and cardiac studies are important to evaluate for the presence of atherosclerosis. Few cases of severe atherosclerotic heart disease in children with sitosterolemia have been reported, making this case worthy of presentation.<\/jats:p><jats:p><jats:bold>Case Presentation:<\/jats:bold> Here, we report a case of sitosterolemia in an 8-year-old child. The patient presented with severe hypercholesterolemia and xanthoma. He was diagnosed two and a half years prior with familial hypercholesterolemia because his father had elevated cholesterol levels. After conventional treatment, the patient was dissatisfied with lipid level control and visited our hospital for further management. Genetic tests of the patient and parents found mutations in intron 7 (NM 022436.2, c.904+1G&amp;gt;A) and intron 9 (NM 022436.2, C. 1324+1de1G) of ABCG5. The 7 intron mutation was from his mother, and the 9 intron mutation was from his father. The patient was diagnosed with sitosterolemia.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> The child was treated with ezetimibe, a low plant sterol diet, and clopidogrel anticoagulant therapy. After 3 months of treatment, the blood lipid level was significantly lower.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> Genetic testing should be completed as soon as possible to avoid misdiagnosis in children with abnormally elevated hypercholesterolemia who have a family history of elevated cholesterol. In addition, clinicians should rule out great arterial lesions and be vigilant in evaluating patients for systemic arterial disease and atherosclerosis.<\/jats:p>","DOI":"10.3389\/fped.2021.668316","type":"journal-article","created":{"date-parts":[[2021,6,11]],"date-time":"2021-06-11T06:04:41Z","timestamp":1623391481000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":10,"title":["Sitosterolemia With Atherosclerosis in a Child: A Case Report"],"prefix":"10.3389","volume":"9","author":[{"given":"Hongjun","family":"Ba","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huimin","family":"Peng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiufang","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liangping","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuese","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuandi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huishen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Youzhen","family":"Qin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,6,11]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1007\/s00108-019-0635-2","article-title":"Sitosterolemia (phytosterolemia)","volume":"60","author":"Lutjohann","year":"2019","journal-title":"Internist."},{"key":"B2","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1086\/321294","article-title":"Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively","volume":"69","author":"Lu","year":"2001","journal-title":"Am J Hum Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1771","DOI":"10.1126\/science.290.5497.1771","article-title":"Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters","volume":"290","author":"Berge","year":"2000","journal-title":"Science."},{"key":"B4","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1194\/jlr.M054544","article-title":"Relative roles of ABCG5\/ABCG8 in liver and intestine","volume":"56","author":"Wang","year":"2015","journal-title":"J Lipid Res."},{"key":"B5","doi-asserted-by":"publisher","first-page":"6766","DOI":"10.2174\/0929867325666180705145900","article-title":"Sitosterolemia: diagnosis, metabolic and hematological abnormalities, cardiovascular disease and management","volume":"26","author":"Bastida","year":"2019","journal-title":"Curr Med Chem."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1226","DOI":"10.3760\/cma.j.issn.0376-2491.2019.16.007","article-title":"Clinical features of 20 patients with phytosterolemia causing hematologic abnormalities","volume":"99","author":"Cao","year":"2019","journal-title":"Zhonghua Yi Xue Za Zhi."},{"key":"B7","doi-asserted-by":"publisher","first-page":"1033","DOI":"10.1172\/JCI107640","article-title":"Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters","volume":"53","author":"Bhattacharyya","year":"1974","journal-title":"J Clin Invest."},{"key":"B8","doi-asserted-by":"publisher","first-page":"e15013","DOI":"10.1097\/MD.0000000000015013","article-title":"Clinical features and genetic analysis of childhood sitosterolemia: two case reports and literature review","volume":"98","author":"Huang","year":"2019","journal-title":"Medicine."},{"key":"B9","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1016\/j.jacl.2019.01.007","article-title":"Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: a case report and literature review","volume":"13","author":"Su","year":"2019","journal-title":"J Clin Lipidol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"716","DOI":"10.5740\/jaoacint.SGEAjagbe","article-title":"Plant sterols, stanols, and sitosterolemia","volume":"98","author":"Ajagbe","year":"2015","journal-title":"J AOAC Int."},{"key":"B11","doi-asserted-by":"publisher","first-page":"741","DOI":"10.5551\/jat.42960","article-title":"Oral fat tolerance test for sitosterolemia and familial hypercholesterolemia: a study protocol","volume":"25","author":"Nomura","year":"2018","journal-title":"J Atheroscler Thromb."},{"key":"B12","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.1194\/jlr.R084244","article-title":"ABCG5 and ABCG8: more than a defense against xenosterols","volume":"59","author":"Patel","year":"2018","journal-title":"J Lipid Res."},{"key":"B13","doi-asserted-by":"publisher","first-page":"1312","DOI":"10.1016\/j.amjcard.2020.01.048","article-title":"Features of sitosterolemia in children","volume":"125","author":"Xu","year":"2020","journal-title":"Am J Cardiol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1016\/j.jacl.2017.10.013","article-title":"The association between hypercholesterolemia and sitosterolemia, and report of a sitosterolemia kindred","volume":"12","author":"Brinton","year":"2018","journal-title":"J Clin Lipidol."},{"key":"B15","first-page":"492","article-title":"Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia","volume":"38","author":"Beaty","year":"1986","journal-title":"Am J Hum Genet."},{"key":"B16","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1093\/oxfordjournals.eurheartj.a014983","article-title":"Coronary bypass grafts in a young girl with sitosterolemia","volume":"17","author":"Kolovou","year":"1996","journal-title":"Eur Heart J."},{"key":"B17","doi-asserted-by":"publisher","first-page":"591","DOI":"10.2169\/internalmedicine.42.591","article-title":"A 19-year-old man with myocardial infarction and sitosterolemia","volume":"42","author":"Katayama","year":"2003","journal-title":"Intern Med."},{"key":"B18","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1515\/jpem-2017-0093","article-title":"Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene","volume":"30","author":"Yagasaki","year":"2017","journal-title":"J Pediatr Endocrinol Metab."},{"key":"B19","doi-asserted-by":"publisher","first-page":"891","DOI":"10.5551\/jat.4614","article-title":"Current therapy for patients with sitosterolemia\u2013effect of ezetimibe on plant sterol metabolism","volume":"17","author":"Tsubakio-Yamamoto","year":"2010","journal-title":"J Atheroscler Thromb."},{"key":"B20","doi-asserted-by":"publisher","first-page":"435","DOI":"10.3760\/cma.j.issn.0578-1310.2018.06.006","article-title":"Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia","volume":"56","author":"Fang","year":"2018","journal-title":"Zhonghua Er Ke Za Zhi."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.668316\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,11]],"date-time":"2021-06-11T06:04:44Z","timestamp":1623391484000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.668316\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,11]]},"references-count":20,"alternative-id":["10.3389\/fped.2021.668316"],"URL":"https:\/\/doi.org\/10.3389\/fped.2021.668316","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,11]]},"article-number":"668316"}}