Repository logo
 
Publication

Fatty Liver and Autoimmune Hepatitis: Two Forms of Liver Involvement in Lipodystrophies

2019-08Journal article Open access
Simple item page
dc.contributor.authorRibeiro, A.
dc.contributor.authorBrandão, J.
dc.contributor.authorCleto, Esmeralda
dc.contributor.authorSantos, M.
dc.contributor.authorBorges, T.
dc.contributor.authorSantos Silva, E.
dc.date.accessioned2020-05-13T14:21:41Z
dc.date.available2020-05-13T14:21:41Z
dc.date.issued2019-08
dc.description.abstractIntroduction: Lipodystrophies are a heterogeneous group of rare diseases (genetic or acquired) characterized by a partial or generalized deficit of adipose tissue, resulting in less energy storage capacity. They are associated with severe endocrine-metabolic complications with significant morbidity and mortality. In the pathogenesis of the acquired forms, immunological disorders may be involved. Case 1: A 13-year-old female was diagnosed with acquired generalized lipodystrophy and observed for suspicion of portal hypertension. She presented with generalized absence of adipose tissue, cervical and axillary acanthosis nigricans, and massive hepatosplenomegaly. Laboratory tests revealed AST 116 IU/L, ALT 238 IU/L, GGT 114 IU/L, HOMA-IR 28.2, triglycerides 491 mg/L, and leptin < 0.05 ng/mL. Upper gastrointestinal endoscopy saw no signs of portal hypertension. Hepatic histology showed macrovesicular fatty infiltration (60% of hepatocytes) and advanced fibrosis/cirrhosis. Her clinical condition worsened progressively to diabetes requiring treatment with subcutaneous insulin and hepatopulmonary syndrome. Case 2: A 15-year-old female, diagnosed with acquired partial lipodystrophy, Parkinson syndrome, autoimmune thyroiditis, and autoimmune thrombocytopenia was observed for hypertransaminasemia since the age of 8 years. She had absence of subcutaneous adipose tissue in the upper and lower limbs and ataxia. Laboratory tests showed AST 461 IU/L, ALT 921 IU/L, GGT 145 IU/L, HOMA-IR 32.6, triglycerides 298 mg/dL, normal leptin levels, platelets 84,000/μL, IgG 1,894 mg/dL, positive anti-LKM and anti-LC-1. Hepatic histology was suggestive of autoimmune hepatitis, without steatosis. She progressed favorably under metformin and immunosuppressive treatment. Conclusion: Early recognition and adequate characterization of liver disease in lipodystrophies is essential for a correct treatment approach. In acquired generalized lipodystrophy, the severe endocrine-metabolic disorder, which leads to steatohepatitis with cirrhotic progression, may benefit from recombinant leptin treatment.pt_PT
dc.description.abstractIntrodução: As lipodistrofias sao um grupo heterogeneo de doencas raras (formas geneticas e adquiridas) caracterizadas por defice parcial ou generalizado de tecido adiposo, resultando em menor capacidade de armazenamento energetico. Estao associadas a complicacoes endocrino-metabolicas graves com morbilidade e mortalidade significativas. Na patogenese das formas adquiridas poderao estar envolvidos disturbios imunologicos. Caso 1: Adolescente de 13 anos, sexo feminino, com diagnostico de lipodistrofia generalizada adquirida, observada por suspeita de hipertensao portal. Apresentava ausencia generalizada de tecido adiposo, acantose nigricans cervical e axilar, e hepatoesplenomegalia volumosa. Do estudo destacavam-se: AST 116 UI/L, ALT 238 UI/L, GGT 114 UI/L, HOMA-IR 28.2, triglicerideos 491 mg/L e leptina < 0.05 ng/mL. A endoscopia digestiva alta nao evidenciou sinais de hipertensao portal. Histologia hepatica com esteatose macrovesicular (60% dos hepatocitos) e fibrose avancada/cirrose. A sua condicao clinica evoluiu progressivamente para diabetes com necessidade de tratamento com insulina subcutanea e sindrome hepatopulmonar. Caso 2: Adolescente de 15 anos, sexo feminino, com diagnostico de lipodistrofia parcial adquirida, sindrome parkinsonico, tiroidite autoimune, e trombocitopenia autoimune, observada por elevacao das transaminases desde os 8 anos. Apresentava ausencia de tecido adiposo subcutaneo nos membros superiores e inferiores, ataxia e tremor das maos, sem sinais de doenca hepatica. Do estudo destacavam-se: AST 461 UI/L, ALT 921 UI/L, GGT 145 UI/L, HOMA-IR 32,6, triglicerideos 298 mg/dL, leptina normal, plaquetas 84,000/μL, IgG 1,894 mg/dL, anticorpos anti-LKM e anti-LC1 positivos. Histologia hepatica sugestiva de hepatite autoimune, sem esteatose. A doente evoluiu favoravelmente com metformina e tratamento imunossupressor. Discussao: O reconhecimento precoce e a caracterizacao adequada da doenca hepatica nas lipodistrofias sao fundamentais para uma correta abordagem terapeutica. Na lipodistrofia generalizada adquirida, o disturbio endocrino-metabolico grave responsavel por esteatohepatite com evolucao cirrogenea podera beneficiar do tratamento inovador com leptina recombinante.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationRibeiro A, Brandão JR, Cleto E, Santos M, Borges T, Santos Silva E. Fatty Liver and Autoimmune Hepatitis: Two Forms of Liver Involvement in Lipodystrophies. GE Port J Gastroenterol. 2019;26(5):362‐369. doi:10.1159/000495767pt_PT
dc.identifier.doi10.1159/000495767pt_PT
dc.identifier.issn2341-4545
dc.identifier.urihttp://hdl.handle.net/10400.16/2387
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherKarger Publishers Open Accesspt_PT
dc.relation.publisherversionhttps://www.karger.com/Article/FullText/495767pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectAcquired generalized lipodystrophypt_PT
dc.subjectAcquired partial lipodystrophypt_PT
dc.subjectAutoimmune hepatitispt_PT
dc.subjectFatty liverpt_PT
dc.subjectLipodystrophypt_PT
dc.subjectLipodistrofiapt_PT
dc.subjectLipodistrofia generalizada adquiridapt_PT
dc.subjectipodistrofia parcial adquiridapt_PT
dc.subjectFígado gordopt_PT
dc.subjectHepatite autoimunept_PT
dc.titleFatty Liver and Autoimmune Hepatitis: Two Forms of Liver Involvement in Lipodystrophiespt_PT
dc.title.alternativeFígado gordo e hepatite autoimune: duas formas de atingimento hepático nas lipodistrofiaspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceSwitzerlandpt_PT
oaire.citation.endPage369pt_PT
oaire.citation.issue5pt_PT
oaire.citation.startPage362pt_PT
oaire.citation.titleGE Portuguese journal of gastroenterologypt_PT
oaire.citation.volume26pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Fatty Liver and Autoimmune Hepatitis.pdf
Size:
1.44 MB
Format:
Adobe Portable Document Format
Download

Collections

SPM - Artigos publicados em revistas indexadas na Pubmed/Medline
SAP - Artigos publicados em revistas indexadas na Pubmed/Medline