Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSPCANDOLO, Aline Coelho RochaCANCADO, Guilherme Grossi LopesZITELLI, Patricia MomoyoMAZO, Daniel Ferraz de CamposOLIVEIRA, Claudia Pinto MarquesCUNHA-SILVA, MarloneGRECA, Raquel DiasARAUJO, Roberta ChavesALUSTAU, Amanda Sacha Paulino TolentinoCOUTO, Claudia AlvesNARDELLI, Mateus JorgeLIMA, Roque Gabriel Rezende deFARIAS, Alberto QueirozCARRILHO, Flair JosePESSOA, Mario Guimaraes2024-02-152024-02-152023GASTROENTEROLOGY INSIGHTS, v.14, n.4, p.564-574, 20232036-7414https://observatorio.fm.usp.br/handle/OPI/57940Background: 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.engopenAccesslysosomal storage diseasescholesterol ester storage diseasecryptogenic chronic hepatitisnon-alcoholic fatty liver diseasecryptogenic liver diseaseester storage diseasesebelipase alphanatural-historycirrhosisdiagnosisbiopsycesdarticleCopyright MDPI10.3390/gastroent14040040Gastroenterology & Hepatology2036-7422