Challenges in familial chylomicronemia syndrome diagnosis and management across latin american countries: an expert panel discussion

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dc.contributor.authorLorenzatti, Alberto J.
dc.contributor.authorNogueira, Juan Patricio
dc.contributor.authorCafferata, Alberto M.
dc.contributor.authorAimone, Daniel
dc.contributor.authorLourenco, Charles Marques
dc.contributor.authorIzar, Maria Cristina De Oliveira
dc.contributor.authorde Lima, Josivan Gomes
dc.contributor.authorLottenberg Pita, Ana Maria
dc.contributor.authorAlonso, Rodrigo
dc.contributor.authorGaray, Karla
dc.contributor.orcidCorral, Pablo [https://orcid.org/0000-0003-0017-8725]
dc.contributor.orcidSantos, Raul D. [https://orcid.org/0000-0002-9860-6582]
dc.date.accessioned2022-03-02T20:46:46Z
dc.date.available2022-03-02T20:46:46Z
dc.date.issued2021
dc.description.abstractenglishFamilial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by extremely high triglyceride levels due to impaired clearance of chylomicrons from plasma. This paper is the result of a panel discussion with Latin American specialists who raised the main issues on diagnosis and management of FCS in their countries. Overall FCS is diagnosed late on the course of the disease, is characterized by heterogeneity on the occurrence of pancreatitis, and remains a long time in care of different specialists until reaching a lipidologist. Pancreatitis and secondary diabetes are frequently seen, often due to late diagnosis and inadequate care. Molecular diagnosis is unusual; however, loss of function variants on the lipoprotein lipase gene are apparently the most frequent etiology. A founder effect of the glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene has been described in the northeast of Brazil. Low awareness of the disease amongst health professionals contributes to inadequate care and an inadequate patient journey.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.jacl.2021.10.004
dc.identifier.instnameinstname:Universidad El Bosquespa
dc.identifier.issn1933-2874
dc.identifier.reponamereponame:Repositorio Institucional Universidad El Bosquespa
dc.identifier.repourlrepourl:https://repositorio.unbosque.edu.co
dc.identifier.urihttps://hdl.handle.net/20.500.12495/7066
dc.language.isoeng
dc.publisherElsevier Ltdspa
dc.publisher.journalJournal of Clinical Lipidologyspa
dc.relation.ispartofseriesJournal of Clinical Lipidology, 1933-2874, Vol 15, Num 5, 2021, pag 620-624spa
dc.relation.urihttps://www.lipidjournal.com/article/S1933-2874(21)00255-5/fulltext
dc.rights.accessrightshttps://purl.org/coar/access_right/c_abf2
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.accessrightsAcceso abierto
dc.rights.localAcceso abiertospa
dc.subject.keywordsFCSspa
dc.subject.keywordsFamilial chylomicronemia syndromespa
dc.subject.keywordsHypertriglyceridemiaspa
dc.subject.keywordsClinical phenotypespa
dc.titleChallenges in familial chylomicronemia syndrome diagnosis and management across latin american countries: an expert panel discussionspa
dc.title.translatedChallenges in familial chylomicronemia syndrome diagnosis and management across latin american countries: an expert panel discussionspa
dc.type.coarhttps://purl.org/coar/resource_type/c_6501
dc.type.coarversionhttps://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.driverinfo:eu-repo/semantics/article
dc.type.hasversioninfo:eu-repo/semantics/publishedVersion
dc.type.localArtículo de revista

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