{"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":1787654281123,"version":"build-2736575974"},"reference-count":33,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,3,10]]},"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:p>\n                    Sitosterolaemia is an autosomal recessive disorder in which the intestinal absorption of sterol molecules is unregulated, leading to elevated cholesterol. Recognition avoids unnecessary investigation. A low plant sterol diet reduces symptoms, anaemia and cardiovascular risk. We identified a patient in an isolated Scottish island community by recognising the key haematological finding of macrothrombocytopenia and haemolytic anaemia (without raised cholesterol). Serum gas chromatography demonstrated significantly raised sitosterol levels. Sequencing revealed homozygosity for the most common\n                    <jats:italic>ABCG8<\/jats:italic>\n                    pathogenic variant, c.1083G&gt;A, p.Trp361Ter (W361X), confirming the diagnosis.\n                  <\/jats:p>\n                  <jats:p>Homozygosity for a rare variant suggested its enrichment in Scottish island populations. Interrogation of data from the Viking Genes Project cohort confirmed a significant increase in variant heterozygosity in those with four Scottish island grandparents compared to the general UK population. We propose that sitosterolaemia is under-recognised. It should be considered in patients with macrothrombocytopenia and haemolytic anaemia, especially in those of Scottish island ancestry.<\/jats:p>","DOI":"10.1136\/bcr-2025-270870","type":"journal-article","created":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T14:30:47Z","timestamp":1774449047000},"page":"e270870","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Haematological presentation of sitosterolaemia"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1312-0904","authenticated-orcid":false,"given":"Mhairi","family":"Murdoch","sequence":"first","affiliation":[{"name":"Acute and Stroke Medicine, NHS Highland, Inverness, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zosia","family":"Miedzybrodzka","sequence":"additional","affiliation":[{"name":"University of Aberdeen, Aberdeen, Scotland, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5751-9178","authenticated-orcid":false,"given":"James F","family":"Wilson","sequence":"additional","affiliation":[{"name":"The University of Edinburgh Usher Institute, Edinburgh, Scotland, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-9986-5677","authenticated-orcid":false,"given":"Benjamin Samulon","family":"Fletcher","sequence":"additional","affiliation":[{"name":"The University of Edinburgh Usher Institute, Edinburgh, Scotland, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6110-3949","authenticated-orcid":false,"given":"Gordon W","family":"Stewart","sequence":"additional","affiliation":[{"name":"NHS Western Isles, Stornoway, Scotland, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,3,25]]},"reference":[{"key":"2026032507301592000_19.3.e270870.1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI107640"},{"key":"2026032507301592000_19.3.e270870.2","doi-asserted-by":"crossref","first-page":"7","DOI":"10.6065\/apem.2016.21.1.7","article-title":"Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management","volume":"21","author":"Yoo","year":"2016","journal-title":"Ann Pediatr Endocrinol Metab"},{"key":"2026032507301592000_19.3.e270870.3","doi-asserted-by":"publisher","DOI":"10.1126\/science.290.5497.1771"},{"key":"2026032507301592000_19.3.e270870.4","doi-asserted-by":"publisher","DOI":"10.1086\/321294"},{"key":"2026032507301592000_19.3.e270870.5","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1002\/ajh.26916","article-title":"Hemolytic anemia and macrothrombocytopenia: A lipid problem?","volume":"98","author":"Risinger","year":"2023","journal-title":"Am J Hematol"},{"key":"2026032507301592000_19.3.e270870.6","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1016\/S0022-2275(20)34286-3","article-title":"Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis","volume":"26","author":"Salen","year":"1985","journal-title":"J Lipid Res"},{"key":"2026032507301592000_19.3.e270870.7","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.jacl.2024.09.012","article-title":"Identification of a homozygous variant in ABCG5 by panel sequencing in a Pakistani family with sitosterolemia: Genotype-phenotype correlation and management considerations","volume":"19","author":"Naeem","year":"2025","journal-title":"J Clin Lipidol"},{"key":"2026032507301592000_19.3.e270870.8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05599.x"},{"key":"2026032507301592000_19.3.e270870.9","first-page":"1392","article-title":"Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities","volume":"91","author":"Su","year":"2006","journal-title":"Haematologica"},{"key":"2026032507301592000_19.3.e270870.10","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1159\/000327248","article-title":"A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis","volume":"126","author":"Wang","year":"2011","journal-title":"Acta Haematol"},{"key":"2026032507301592000_19.3.e270870.11","doi-asserted-by":"crossref","unstructured":"Neff AT . 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