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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.authorCUNHA-SILVA, Marlone
dc.contributor.authorMAZO, Daniel F. C.
dc.contributor.authorCORREA, Barbara R.
dc.contributor.authorLOPES, Tirzah M.
dc.contributor.authorARRELARO, Raquel C.
dc.contributor.authorFERREIRA, Gabriel L.
dc.contributor.authorI, Marcello Rabello
dc.contributor.authorSEVA-PEREIRA, Tiago
dc.contributor.authorESCANHOELA, Cecilia A. F.
dc.contributor.authorALMEIDA, Jazon R. S.
dc.date.accessioned2019-05-30T13:45:21Z
dc.date.available2019-05-30T13:45:21Z
dc.date.issued2019
dc.identifier.citationANNALS OF HEPATOLOGY, v.18, n.1, p.230-235, 2019
dc.identifier.issn1665-2681
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/31927
dc.description.abstractLysosomal acid lipase deficiency is a poorly diagnosed genetic disorder, leading to accumulation of cholesterol esters and triglycerides in the liver, with progression to chronic liver disease, dyslipidemia, and cardiovascular complications. Lack of awareness on diagnosis of this condition may hamper specific treatment, which consists on enzymatic replacement. It may prevent the progression of liver disease and its complications. We describe the case of a 53-year-old Brazilian man who was referred to our center due to the diagnosis of liver cirrhosis of unknown etiology. He was asymptomatic and had normal body mass index. He had dyslipidemia, and family history of myocardial infarction and stroke. Abdominal imaging tests showed liver cirrhosis features and the presence of intrahepatic calcifications. Initial investigation of the etiology of the liver disease was not elucidated, but liver biopsy showed microgoticular steatosis and cholesterol esters deposits in Kuppfer cells. The dosage of serum lysosomal acid lipase was undetectable and we found the presence of a rare homozygous mutation in the gene associated with the lysosomal acid lipase deficiency, (allele c. 386A > G homozygous p. H129R).eng
dc.language.isoeng
dc.publisherMEXICAN ASSOC HEPATOLOGYeng
dc.relation.ispartofAnnals of Hepatology
dc.rightsrestrictedAccesseng
dc.subjectCholesterol ester storage diseaseeng
dc.subjectIntrahepatic calcificationseng
dc.subjectLiver steatosiseng
dc.subjectSebelipase alfaeng
dc.subjectEnzyme replacementeng
dc.subject.otherstem-cell transplantationeng
dc.subject.otherester storage diseaseeng
dc.subject.othersebelipase alphaeng
dc.subject.otherwolmans-diseaseeng
dc.subject.otherdyslipidemiaeng
dc.titleLysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutationeng
dc.typearticleeng
dc.rights.holderCopyright MEXICAN ASSOC HEPATOLOGYeng
dc.identifier.doi10.5604/01.3001.0012.7930
dc.identifier.pmid30596605
dc.subject.wosGastroenterology & Hepatologyeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
hcfmusp.author.externalCUNHA-SILVA, Marlone:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil
hcfmusp.author.externalCORREA, Barbara R.:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil
hcfmusp.author.externalLOPES, Tirzah M.:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil
hcfmusp.author.externalARRELARO, Raquel C.:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil
hcfmusp.author.externalFERREIRA, Gabriel L.:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil
hcfmusp.author.externalI, Marcello Rabello:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil
hcfmusp.author.externalSEVA-PEREIRA, Tiago:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil
hcfmusp.author.externalESCANHOELA, Cecilia A. F.:Univ Campinas UNICAMP, Sch Med Sci, Dept Pathol, Campinas, SP, Brazil
hcfmusp.author.externalALMEIDA, Jazon R. S.:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil
hcfmusp.description.beginpage230
hcfmusp.description.endpage235
hcfmusp.description.issue1
hcfmusp.description.volume18
hcfmusp.origemWOS
hcfmusp.origem.idWOS:000460750900030
hcfmusp.origem.id2-s2.0-85059280799
hcfmusp.publisher.cityMEXICOeng
hcfmusp.publisher.countryMEXICOeng
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dc.description.indexMEDLINEeng
hcfmusp.citation.scopus3-
hcfmusp.scopus.lastupdate2022-06-10-
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