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Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia?

2017-03Journal article Restricted access
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dc.contributor.authorChora, J.R.
dc.contributor.authorAlves, A.C.
dc.contributor.authorMedeiros, A.M.
dc.contributor.authorMariano, C.
dc.contributor.authorLobarinhas, G.
dc.contributor.authorGuerra, A.
dc.contributor.authorMansilha, H.
dc.contributor.authorCortez-Pinto, H.
dc.contributor.authorBourbon, M.
dc.date.accessioned2017-11-03T14:59:32Z
dc.date.available2021-03-01T01:30:13Z
dc.date.issued2017-03
dc.description.abstractHighlights: - Dyslipidemia phenotype of patients with familial hypercholesterolemia and lysosomal acid lipase deficiency (LALD) can overlap; - Familial hypercholesterolemia negative patients should be investigated to identify possible LALD patients; - Correct identification of LALD patients is important for patient prognosis. Background: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD. Objective: The aim of this study was to investigate LALD in individuals with severe dyslipidemia and/or liver steatosis. Methods: Coding, splice regions, and promoter region of LIPA were sequenced by Sanger sequencing in a cohort of mutation-negative familial hypercholesterolemia (FH) patients (n = 492) and in a population sample comprising individuals with several types of dyslipidemia and/or liver steatosis (n = 258). Results: This study led to the identification of LALD in 4 children referred to the Portuguese FH Study, all with a clinical diagnosis of FH. Mild liver dysfunction was present at the age of FH diagnosis; however, a diagnosis of LALD was not considered. No adults at the time of referral have been identified with LALD. Conclusion: LALD is a life-threatening disorder, and early identification is crucial for the implementation of specific treatment to avoid premature mortality. FH cohorts should be investigated to identify possible LALD patients, who will need appropriate treatment. These results highlight the importance of correctly identifying the etiology of the dyslipidemia.pt_PT
dc.description.sponsorshipM. Bourbon received a project grant from Alexion to develop this study.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Clin Lipidol. 2017 Mar - Apr;11(2):477-484.e2. doi: 10.1016/j.jacl.2016.11.002. Epub 2016 Nov 17.pt_PT
dc.identifier.doi10.1016/j.jacl.2016.11.002pt_PT
dc.identifier.issn1933-2874
dc.identifier.urihttp://hdl.handle.net/10400.18/4801
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevier/ National Lipid Associationpt_PT
dc.relation.publisherversionhttp://www.sciencedirect.com/science/article/pii/S1933287416304172pt_PT
dc.subjectCholesterol Ester Storage Diseasept_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectLIPApt_PT
dc.subjectLysosomal Acid Lipase Deficiencypt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleLysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia?pt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage484pt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage477pt_PT
oaire.citation.titleJournal of Clinical Lipidologypt_PT
oaire.citation.volume11pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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