It may be worthwhile to investigate lysosomal acid lipase deficiency (LAL-D) in patients with chronic liver disease of unknown etiology, according to a new study in the journal Annals of Hepatology.

Even though LAL-D is rare, researchers from the University of São Paulo School of Medicine in Brazil completed a multicenter cross-sectional study and followed 295 patients with presumed cryptogenic liver disease. This was led by Mário Guimarães Pessoa, MD, PhD, from the Division of Clinical Gastroenterology and Hepatology in the Department of Gastroenterology.

The researchers assessed the clinical, demographic, and laboratory data from all participants excluding those for whom the cause of the liver disease was known. For those with liver disease of unknown cause, they assessed LAL enzyme activity on dried blood spots.

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Of the 295 patients that the researchers followed, 135 had liver disease of unknown cause. Three of these (2.22%) had LAL values below the reference limit, which could be indicative of LAL-D, the authors said. Two of these patients were female and they were aged between 42 and 45. Their mean body mass index (BMI) was 24.3, their mean serum glycemia was 89.7 mg/dL, their mean serum HDL cholesterol was 21.7 mg/dL, and their mean serum triglycerides were 206.7 mg/dL.

“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,” the researchers concluded.

LAL-D is a disease inherited in an autosomal recessive manner. It is characterized by defective lipid metabolism due to reduced enzymatic activity leading to the disruption of cholesteryl ester and triglyceride degradation, which results in an accumulation in the liver, spleen, and other organs.


Coelho Rocha Candolo A, Momoyo Zitelli P, Ferraz de Campos Mazo D, et al. The importance of lysosomal acid lipase deficiency in the etiology]ical inverstigation of cryptogenic liver disease in adults: a multicenter study. Ann Hepatol. 24;(2021);100366. doi:10.1016/j.aohep.2021.100495