O-8 the importance of lysosomal acid lipase deficiency in the etiological investigation of cryptogenic liver disease in adults: a multicenter study

Background Lysosomal acid lipase deficiency (LAL-D) is a rare genetic disease associated with lipid metabolism deregulation leading to atherosclerosis, dyslipidemia, and hepatic steatosis, with potential progression to cirrhosis. Investigation of LAL-D in patients with chronic liver disease is not routinely performed in most centers. Aim The aim of this study was to evaluate whether it is worthwhile to investigate LAL-D in patients with liver disease of unknown etiology, and if there is any particular population that this search should be focused. Methods This was a multicenter cross-sectional study in 295 patients followed with presumed cryptogenic liver disease from four tertiary centers in Brazil. Clinical, demographic and laboratory data from participants were assessed, with the exclusion of all known causes of liver disease. All patients were submitted to the investigation of LAL enzyme activity. The exams were collected on dried blood spot (DBS). Results A total of 135 patients were included in the study. Three patients (2.22%) presented values of LAL below the reference limit, compatible with LAL-D. The mean age of these patients was 43.9±10.1 years, of which 2 were females. The mean BMI was 24.3±0.7 and mean serum glycemia was 89.7±3.2 mg/dL. The mean serum HDL and triglycerides were 21.7±3.2 mg/dL and 206.7±25.5 mg/dL, respectively. Conclusion Despite being a rare disease, also in our study population, LAL-D investigation may be considered in those individuals without overweight with reduced serum HDL and elevated triglycerides levels and chronic liver disease of unknown etiology.