P- 15 GENETIC AND CLINICAL CHARACTERISTICS IN LEAN MASLD PATIENTS WITH AND WITHOUT CIRRHOSIS IN LATINOAMERICAN POPULATION

Conflict of interest

No

Introduction and Objectives

Metabolic dysfunction associated esteatotic liver disease (MASLD) is the most common chronic liver disease worldwide. It is associated with metabolic conditions and can also occur in lean patients with a normal or low BMI. Polymorphisms in PNPLA3, TM6SF2 and MBOAT7 genes have been linked to an increased risk of developing hepatocellular carcinoma (HCC) and greater severity of fibrosis. This study aimed to assess clinical and genetics characteristics in Latin American lean MASLD patients with and without cirrhosis.

Patients / Materials and Methods

This descriptive cross-sectional study evaluated 148 patients from an international database of chronic liver disease patients (ESCALON), including Colombia, Brazil, Chile, Ecuador, Argentina and Perú. MASLD was identified in patients with a BMI≤ 25. Patients with alcohol-associated and viral -related liver diseases, as well as other liver conditions, were excluded. Clinical features and main MASLD-related pathogenic variants were evaluated in this population. We used BlueSky software to evaluate two sample t -test for cirrhotic vs no cirrhotic variables. The assessment included the median age range and average BMI.

Results and Discussion

A total of 102 patients (69%) were found to have cirrhosis, with 57% being female and a median age of 65,6 years.42% had HCC, 39% had diabetes mellitus(DM), 14% had dyslipidemia, and 28% had hypertension (HTN).Common genetic variants were evaluated in 60.8% (90/148) of the study population with the following distribution: PNPLA3 (rs738409): 45,6% (GG), 43,3% (CG);MBOAT7(rs641738): 10%(TT), 43,3%(CT);TM6SF2(rs58542926): 0%(TT), 12,2%(CT) and 87,8%(CC);HSD17B13(rs72613567):1,2%(TT), 16,3%(AT);GCKR(rs1260326):33,3%(CC), 50%(CT).The characteristics by group and the differences found are shown in table 1

Conclusions

Cirrhotic patients were older, with higher rates of diabetes mellitus, hypertension, dyslipidemia and HCC. The PNPLA3 GG variant was predominant in cirrhotics compared to non-cirrhotic patients, with no significant differences between groups in the other variants