Lysosomal Acid Lipase Deficiency in the Etiological Investigation of Cryptogenic Liver Disease in Adults: A Multicenter Brazilian Study

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Tipo de produção
article
Data de publicação
2023
DOI
Scopus
Web of Science
Título da Revista
ISSN da Revista
Título do Volume
Editora
MDPI
Autores
CANCADO, Guilherme Grossi Lopes
CUNHA-SILVA, Marlone
GRECA, Raquel Dias
ARAUJO, Roberta Chaves
ALUSTAU, Amanda Sacha Paulino Tolentino
COUTO, Claudia Alves
Citação
GASTROENTEROLOGY INSIGHTS, v.14, n.4, p.564-574, 2023
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Background: Lysosomal acid lipase deficiency (LAL-D) is a rare genetic disease associated with the deregulation of lipid metabolism, leading to atherosclerosis, dyslipidemia, and hepatic steatosis, with potential progression to cirrhosis. Our study aims to assess the role of LAL-D in the setting of cryptogenic liver disease. Methods: A large multicenter cross-sectional study was conducted, which included 135 patients with cryptogenic liver disease from four liver centers in Brazil. All patients were submitted to the investigation of LAL enzyme activity on dried blood spots. Results: Three patients (two female) presented levels of LAL below the reference limit, compatible with LAL-D (2.2%). They had a mean age of 43.9 +/- 10.1 years and a mean body-mass index (BMI) of 23.1 +/- 1.7 kg/m2. The mean serum levels of glucose, HDL-cholesterol, and triglycerides were 89.7 +/- 3.2, 21.7 +/- 3.2, and 206.7 +/- 25.5 mg/dL, respectively. All patients had duodenal polyposis with xanthomatous macrophages. LAL-D investigation should be considered for individuals with chronic liver disease of an unknown etiology, especially with a normal BMI, high triglycerides, and low-HDL-cholesterol levels. The identification of LAL-D patients is extremely important since enzyme replacement therapy with Sebelipase Alfa significantly increases their survival.
Palavras-chave
lysosomal storage diseases, cholesterol ester storage disease, cryptogenic chronic hepatitis, non-alcoholic fatty liver disease, cryptogenic liver disease
URI
https://observatorio.fm.usp.br/handle/OPI/57940
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MGT
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/07
Artigos e Materiais de Revistas Científicas - ODS/03