Update on Sitosterolemia and Atherosclerosis

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorROCHA, Viviane Zorzanelli
dc.contributor.authorTADA, Mauricio Teruo
dc.contributor.authorCHACRA, Ana Paula Marte
dc.contributor.authorMINAME, Marcio Hiroshi
dc.contributor.authorMIZUTA, Marjorie H. H.
dc.date.accessioned2024-02-15T15:03:17Z
dc.date.available2024-02-15T15:03:17Z
dc.date.issued2023
dc.description.abstractPurpose of ReviewThe purpose of this review was to summarize important and updated information on sitosterolemia. Sitosterolemia is an inherited lipid disorder consisting of high levels of plasma plant sterols. This sterol storage condition is caused by biallelic loss-of-function genetic variants in either ABCG5 or ABCG8, leading to increased intestinal absorption and decreased hepatic excretion of plant sterols. Clinically, patients with sitosterolemia usually exhibit xanthomatosis, high levels of plasma cholesterol, and premature atherosclerotic disease, but presentation can be highly heterogeneous. Therefore, recognition of this condition requires a high level of suspicion, with confirmation upon genetic diagnosis or through measurement of plasma phytosterols. Treatment of sitosterolemia with both a plant sterol-restricted diet and the intestinal cholesterol absorption inhibitor ezetimibe can reduce efficiently the levels of plasma plant sterols, consisting in the first-line therapy for this disease.Recent FindingsSince hypercholesterolemia is often present in individuals with sitosterolemia, it is important to search for genetic variants in ABCG5 and ABCG8 in patients with clinical criteria for familial hypercholesterolemia (FH), but no variants in FH implicated genes. Indeed, recent studies have suggested that genetic variants in ABCG5/ABCG8 can mimic FH, and even when in heterozygosis, they may potentially exacerbate the phenotype of patients with severe dyslipidemia.Sitosterolemia is a genetic lipid disorder characterized by increased circulating levels of plant sterols and clinically manifested by xanthomatosis, hematologic disorders, and early atherosclerosis. Awareness about this condition, a rare, but commonly underdiagnosed and yet treatable cause of premature atherosclerotic disease, is imperative.eng
dc.description.indexMEDLINE
dc.description.indexPubMed
dc.description.indexWoS
dc.description.indexScopus
dc.identifier.citationCURRENT ATHEROSCLEROSIS REPORTS, v.25, n.5, p.181-187, 2023
dc.identifier.doi10.1007/s11883-023-01092-4
dc.identifier.eissn1534-6242
dc.identifier.issn1523-3804
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/58333
dc.language.isoeng
dc.publisherCURRENT MEDICINE GROUPeng
dc.relation.ispartofCurrent Atherosclerosis Reports
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright CURRENT MEDICINE GROUPeng
dc.subjectSitosterolemiaeng
dc.subjectPlant sterolseng
dc.subjectCholesteroleng
dc.subjectHypercholesterolemiaeng
dc.subjectAtherosclerosiseng
dc.subjectXanthomaseng
dc.subject.otherezetimibe 10 mgeng
dc.subject.otherplant sterolseng
dc.subject.othercholestyramineeng
dc.subject.otherxanthomatosiseng
dc.subject.othermetabolismeng
dc.subject.otherabsorptioneng
dc.subject.otherefficacyeng
dc.subject.othertherapyeng
dc.subject.otherdiseaseeng
dc.subject.otherpatienteng
dc.subject.wosPeripheral Vascular Diseaseeng
dc.titleUpdate on Sitosterolemia and Atherosclerosiseng
dc.typearticleeng
dc.type.categoryrevieweng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.citation.scopus6
hcfmusp.contributor.author-fmusphcVIVIANE ZORZANELLI ROCHA GIRALDEZ
hcfmusp.contributor.author-fmusphcMAURICIO TERUO TADA
hcfmusp.contributor.author-fmusphcANA PAULA MARTE CHACRA
hcfmusp.contributor.author-fmusphcMARCIO HIROSHI MINAME
hcfmusp.contributor.author-fmusphcMARJORIE HAYASHIDA MIZUTA
hcfmusp.description.beginpage181
hcfmusp.description.endpage187
hcfmusp.description.issue5
hcfmusp.description.volume25
hcfmusp.origemWOS
hcfmusp.origem.pubmed36897412
hcfmusp.origem.scopus2-s2.0-85149724402
hcfmusp.origem.wosWOS:000946831700001
hcfmusp.publisher.cityPHILADELPHIAeng
hcfmusp.publisher.countryUSAeng
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hcfmusp.scopus.lastupdate2024-04-19
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