Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation.

Autor:	Cunha-Silva M; Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil. Electronic address: marlone.cunha@gmail.com., Mazo DFC; Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil; Department of Gastroenterology, University of Sao Paulo School of Medicine (FMUSP), Sao Paulo, Brazil., Corrêa BR; Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Lopes TM; Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Arrelaro RC; Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Ferreira GL; Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Rabello MI; Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Sevá-Pereira T; Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Escanhoela CAF; Department of Pathology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Almeida JRS; Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
Jazyk:	angličtina
Zdroj:	Annals of hepatology [Ann Hepatol] 2019 Jan - Feb; Vol. 18 (1), pp. 230-235.
DOI:	10.5604/01.3001.0012.7930
Abstrakt:	Lysosomal 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). (Copyright © 2019 Fundación Clínica Médica Sur, A.C. Published by Elsevier España, S.L.U. All rights reserved.)
Databáze:	MEDLINE
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