{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T10:37:59Z","timestamp":1787654279269,"version":"build-2736575974"},"reference-count":16,"publisher":"The Endocrine Society","issue":"11","license":[{"start":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:00:00Z","timestamp":1759968000000},"content-version":"vor","delay-in-days":14,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Sitosterolemia is a rare, autosomal recessive lipid disorder caused by mutations in adenosine triphosphate\u2013binding cassette subfamily G member 5 or 8 (ABCG5\/8), leading to excessive absorption and systemic accumulation of plant sterols. Patients typically present with xanthelasma, tendon xanthomas, premature atherosclerosis, and hematologic abnormalities. We report a case of sitosterolemia in a man presenting with hemolytic anemia, macrothrombocytopenia, and hypercholesterolemia. Genetic testing revealed a novel combination of ABCG8 variants, expanding the known spectrum of pathogenic mutations associated with this condition. The patient was treated with statin, ezetimibe, and low plant sterol diet, and after 9 months his plasma sterol levels improved.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf234","type":"journal-article","created":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T10:02:14Z","timestamp":1760004134000},"source":"Crossref","is-referenced-by-count":1,"title":["Sitosterolemia Due to a New Combination of <i>ABCG8<\/i> Variants Presenting as Hemolytic Anemia and Macrothrombocytopenia"],"prefix":"10.1210","volume":"3","author":[{"family":"Anum","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Department of Medicine, University of Texas Southwestern Medical Center , Dallas, TX 75390-8537 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie R","family":"Bavli","sequence":"additional","affiliation":[{"name":"Division of Hematology and Oncology, Department of Medicine, University of Texas Southwestern Medical Center , Dallas, TX 75390-8537 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7810-4024","authenticated-orcid":false,"given":"Zahid","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Medicine, University of Texas Southwestern Medical Center , Dallas, TX 75390-8537 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2025,10,9]]},"reference":[{"key":"2025100913171890500_luaf234-B1","volume-title":"Endotext","author":"Liebeskind","year":"2000"},{"issue":"4","key":"2025100913171890500_luaf234-B2","doi-asserted-by":"crossref","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":"2025100913171890500_luaf234-B3","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/bs.acc.2022.06.006","article-title":"Sitosterolemia","volume":"110","author":"Tada","year":"2022","journal-title":"Adv Clin Chem"},{"issue":"8","key":"2025100913171890500_luaf234-B4","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.2169\/internalmedicine.8288-21","article-title":"Acute coronary syndrome developed in a 17-year-old boy with sitosterolemia comorbid with Takayasu arteritis: a rare case report and review of the literature","volume":"61","author":"Iyama","year":"2022","journal-title":"Intern Med"},{"key":"2025100913171890500_luaf234-B5","doi-asserted-by":"crossref","first-page":"668316","DOI":"10.3389\/fped.2021.668316","article-title":"Sitosterolemia with Atherosclerosis in a child: a case 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sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively","volume":"69","author":"Lu","year":"2001","journal-title":"Am J Hum Genet"},{"key":"2025100913171890500_luaf234-B9","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.atherosclerosis.2017.05.002","article-title":"Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia","volume":"262","author":"Buonuomo","year":"2017","journal-title":"Atherosclerosis"},{"issue":"1","key":"2025100913171890500_luaf234-B10","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.jacl.2021.11.015","article-title":"Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia","volume":"16","author":"Xia","year":"2022","journal-title":"J Clin 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phytosterolemia\/sitosterolemia","volume":"115","author":"Chase","year":"2010","journal-title":"Blood"},{"issue":"1","key":"2025100913171890500_luaf234-B14","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.jpeds.2014.08.069","article-title":"Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia","volume":"166","author":"Othman","year":"2015","journal-title":"J Pediatr"},{"issue":"10","key":"2025100913171890500_luaf234-B15","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1111\/j.1742-1241.2008.01841.x","article-title":"Long-term efficacy and safety of ezetimibe 10\u2005mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study","volume":"62","author":"L\u00fctjohann","year":"2008","journal-title":"Int J Clin Pract"},{"issue":"6","key":"2025100913171890500_luaf234-B16","doi-asserted-by":"crossref","first-page":"1853","DOI":"10.1053\/j.gastro.2006.02.027","article-title":"Intestinal 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