Tags

Type your tag names separated by a space and hit enter

Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation.
Ann Hepatol 2019 Jan - Feb; 18(1):230-235AH

Abstract

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).

Authors+Show Affiliations

Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil. Electronic address: marlone.cunha@gmail.com.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.Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.Department of Pathology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.Department of Gastroenterology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31113597

Citation

Cunha-Silva, Marlone, et al. "Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation." Annals of Hepatology, vol. 18, no. 1, 2019, pp. 230-235.
Cunha-Silva M, Mazo DFC, Corrêa BR, et al. Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation. Ann Hepatol. 2019;18(1):230-235.
Cunha-Silva, M., Mazo, D. F. C., Corrêa, B. R., Lopes, T. M., Arrelaro, R. C., Ferreira, G. L., ... Almeida, J. R. S. (2019). Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation. Annals of Hepatology, 18(1), pp. 230-235. doi:10.5604/01.3001.0012.7930.
Cunha-Silva M, et al. Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation. Ann Hepatol. 2019;18(1):230-235. PubMed PMID: 31113597.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation. AU - Cunha-Silva,Marlone, AU - Mazo,Daniel F C, AU - Corrêa,Bárbara R, AU - Lopes,Tirzah M, AU - Arrelaro,Raquel C, AU - Ferreira,Gabriel L, AU - Rabello,Marcello I, AU - Sevá-Pereira,Tiago, AU - Escanhoela,Cecilia A F, AU - Almeida,Jazon R S, PY - 2017/06/21/received PY - 2017/11/22/accepted PY - 2019/5/23/entrez KW - Cholesterol ester storage disease KW - Enzyme replacement KW - Intrahepatic calcifications KW - Liver steatosis KW - Sebelipase alfa SP - 230 EP - 235 JF - Annals of hepatology JO - Ann Hepatol VL - 18 IS - 1 N2 - 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). SN - 1665-2681 UR - https://www.unboundmedicine.com/medline/citation/31113597/Lysosomal_Acid_Lipase_Deficiency_Leading_to_Liver_Cirrhosis:_a_Case_Report_of_a_Rare_Variant_Mutation L2 - https://linkinghub.elsevier.com/retrieve/pii/S1665-2681(19)30328-X DB - PRIME DP - Unbound Medicine ER -