{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T23:22:54Z","timestamp":1789428174406,"version":"build-2803163510"},"reference-count":21,"publisher":"The Endocrine Society","issue":"5","license":[{"start":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T00:00:00Z","timestamp":1714694400000},"content-version":"vor","delay-in-days":10,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,4,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Sitosterolemia is a rare monogenic lipid disease characterized by the excessive uptake of phytosterols and their accumulation in blood and tissues. Clinically, it can present with hypercholesterolemia and xanthomas, often causing it to be misdiagnosed as familial hypercholesterolemia (FH). The diagnosis of sitosterolemia can easily be confirmed and distinguished from FH with a sterol profile and genetic investigations. Here, we report a sibship of 2 sisters with sitosterolemia initially misdiagnosed as FH. This case report illustrates the importance of considering rare conditions, such as sitosterolemia, as a differential diagnosis in patients with hypercholesterolemia, xanthomas, and hematologic anomalies. It also emphasizes the underdiagnosis of sitosterolemia and the benefits of using sterol profiles and genetic testing in the diagnostic process to initiate the appropriate therapy and avoid harm to patients.<\/jats:p>","DOI":"10.1210\/jcemcr\/luae086","type":"journal-article","created":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T10:09:53Z","timestamp":1714730993000},"source":"Crossref","is-referenced-by-count":9,"title":["Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm?"],"prefix":"10.1210","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6327-7048","authenticated-orcid":false,"given":"Simon-Pierre","family":"Guay","sequence":"first","affiliation":[{"name":"Genetic Dyslipidemias Clinic of the Montreal Clinical Research Institute , Montr\u00e9al, Qu\u00e9bec H2W 1R7 , Canada"},{"name":"Department of Medicine, Division of Endocrinology, Universit\u00e9 de Montr\u00e9al , Montr\u00e9al, Qu\u00e9bec H3T 1J4 , Canada"},{"name":"Department of Pediatrics, Division of Medical Genetics, Universit\u00e9 de Sherbrooke , Sherbrooke, Qu\u00e9bec J1H 5N4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7555-1275","authenticated-orcid":false,"given":"Martine","family":"Paquette","sequence":"additional","affiliation":[{"name":"Genetic Dyslipidemias Clinic of the Montreal Clinical Research Institute , Montr\u00e9al, Qu\u00e9bec H2W 1R7 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal","family":"Blais","sequence":"additional","affiliation":[{"name":"Genetic Dyslipidemias Clinic of the Montreal Clinical Research Institute , Montr\u00e9al, Qu\u00e9bec H2W 1R7 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00e9raldine","family":"Gosse","sequence":"additional","affiliation":[{"name":"Genetic Dyslipidemias Clinic of the Montreal Clinical Research Institute , Montr\u00e9al, Qu\u00e9bec H2W 1R7 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9534-1657","authenticated-orcid":false,"given":"Alexis","family":"Baass","sequence":"additional","affiliation":[{"name":"Genetic Dyslipidemias Clinic of the Montreal Clinical Research Institute , Montr\u00e9al, Qu\u00e9bec H2W 1R7 , Canada"},{"name":"Department of Medicine, Divisions of Experimental Medicine and Medical Biochemistry, McGill University , Montr\u00e9al, Qu\u00e9bec H3A 0G4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2024,5,3]]},"reference":[{"issue":"2","key":"2024052407045958300_luae086-B1","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.atherosclerosis.2013.09.038","article-title":"Non-cholesterol sterols and cholesterol metabolism in 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