ABSTRACT

We investigated the role of the H63D mutation on the development of hepatic iron overload and hepatic injury in non-alcoholic steatohepatitis patients and its association with insulin resistance and metabolic alterations.

Thirty-two patients with NASH, who were diagnosed at Hacettepe University Gastroenterology Outpatient Clinic depending on clinic and laboratory findings, were included into study. Metabolic syndrome was sought. Waist hip ratio and body mass index were calculated. H63D gene mutation, iron level at serum and liver biopsy specimens and histopathologic exam on liver biopsy specimens were studied in study group. Fasting and post-prandial blood sugar, lipid profile, 75-gr-glucose tolerance test and HOMA insulin resistance were measured to document the insulin resistance and metabolic syndrome.

Thirty-two patients with mean body mass index was 28.1 kg/m23,3 were included in study. Hypertension, obesity, hypercholesterolemia, hypertriglyceridemia, insulin resistance were found at 25 %, 37 %, 56 %, 28 % and 39 %, respectively. Serum ferritin and transferrin saturation values were within normal limits in all but except 2 patients. Hepatic iron concentration was ≥ 1600g in 12 (41%) of patients. H63D mutation was homozygote in 1 (3%) and heterozygote 12 (40%) patients. Therefore the H63D allele frequencies were 3.3% for homozygous, 20% for heterozygous and as total 23.4%. The patients with H63D mutation had normal serum and tissue iron parameters. There was no statistically significant relationship between H63D mutation and histopathological findings. Two hour blood sugar levels were higher in Stage 2 patients than in Stage 1 patients (p=0.05), and also higher in Class 4 patients than in Class ≤3 patients (p=0.05).

The H63D mutation did not affected either serum iron parameters or histopathology. However, the insulin resistance was related with fibrosis in non-alcoholic steatohepatitis patients.

Keywords: HFE; H63D Mutation, Non-Alcoholic Steatohepatitis, Iron Overload, Insulin Resistance