Marlone Cunha-Silva, Daniel F.C. Mazo, Barbara R. Correa, Tirzah M. Lopes, Raquel C. Arrelaro, Gabriel L. Ferreira, Marcello I. Rabello, Tiago Seva-Pereira, Cecilia A.F. Escanhoela, Jazon R. S. Almeida Jazon R. S. Almeida
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).
Key words. Cholesterol ester storage disease, Intrahepatic calcifications, Liver steatosis, Sebelipase alfa, Enzyme replacement