Nonalcoholic fatty liver disease and HFE gene mutations: a Polish study

To describe a Polish population with nonalcoholic fatty liver disease (NAFLD) with regard to HFE gene mutations, as well as analyzing demographic and clinical data.

Sixty-two consecutive patients with biopsy-proven NAFLD were included in the study. Demographic, clinical, and laboratory data were summarized in a database. C282Y and H63D mutations of the HFE gene were analyzed using polymerase chain reaction-restriction fragment lenght polymorphism.

The analyzed cohort consisted of 62 homogeneic Caucasian participants, 66.1% men and 33.9% women, with a median age of 48 years. The median body mass index was 29.05 kg/m(2). Hypercholesterolemia was observed in 74.2% of patients and hypertriglyceridemia in 32.2%; 16.1% had type 2 diabetes mellitus (DMt2). On liver biopsy, 22.6% of NAFLD patients were found to have severe fibrosis. There were no differences between frequencies of HFE gene mutations in subgroups of NAFLD patients with less and more severe liver fibrosis. Obesity, older age, female gender and DMt2 were associated with more advanced fibrosis in this Polish cohort, as well as higher glucose level, serum iron and transaminase aspartate aminotransferase/alanine aminotransferase ratio.

HFE mutations conferred no additional hepatic fibrosis risk in NAFLD, but higher serum iron was a risk factor for severe liver damage in NAFLD, regardless of HFE mutations.