Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?

Turk J Med Sci. 2022 Aug;52(4):1075-1084. doi: 10.55730/1300-0144.5410. Epub 2022 Aug 10.


Background: Cholesterol ester storage disease (CESD) is one of the rare causes that should be kept in mind in the etiology of cirrhosis. Recent studies detected that significantly reduced lysosomal acid lipase deficiency enzyme (LAL) in patients with cryptogenic cirrhosis (CC). Moreover, studies have evaluated that LAL activity is as effective as scoring systems in assessing the severity of cirrhosis. In this study, we aimed to investigate the CESD with LAL level and mutation analysis of LIPA gene in patients diagnosed with CC and to compare LAL activities between patients with CC and healthy volunteers.

Methods: Laboratory parameters and cirrhosis stage (CHILD and MELD) were recorded for the patient group included in the study. In addition, blood samples were taken from each case included in the study for LAL activity determination and LIPA gene analysis.

Results: A statistically significant decrease in LAL activity was found in patients diagnosed with CC compared to the healthy group. LIPA gene analysis did not detect CESD in any patient group. Correlation analysis showed a positive correlation between LAL activity and white blood cell and platelet counts in both healthy volunteers and CC patient groups. In the univariate and multivariate logistic regression analysis of the parameters associated with the MELD of ≥10 in patients with CC, significant relationship was found between the MELD of ≥10 and the LAL activity.

Discussion: In our study, LAL activity was significantly lower in CC patients than in the normal population. LAL activity level appears to be a parameter that can be used to assess the severity of cirrhosis.

Keywords: Cholesterol ester storage disease; LIPA gene; cryptogenic cirrhosis; lysosomal acid lipase deficiency.

MeSH terms

  • Follow-Up Studies
  • Humans
  • Liver Cirrhosis / diagnosis
  • Sterol Esterase* / genetics
  • Wolman Disease* / diagnosis
  • Wolman Disease* / genetics


  • Sterol Esterase

Supplementary concepts

  • Cirrhosis, Cryptogenic

Grants and funding

This study is supported by TÜBİTAK (The Scientific and Technological Research Council of Turkey) (3001 program) with the project number of 118S276.