[The prevalence of peripheral iron overload and the presence of HFE gene (H63D) mutation among the Korean patients with nonalcoholic fatty liver disease].
OBJECTIVE
There are controversies on the role of iron overload in the mechanism of liver injury in nonalcoholic fatty liver disease (NAFLD). The aim of this study was to evaluate the prevalence of peripheral iron overload, and to study the presence of HFE mutations (C282Y, H63D, S65C) in a cohort of Korean NAFLD patients.


METHODS
255 patients with NAFLD were included. The patients had been diagnosed as having NAFLD by the criteria of elevated aminotransferase levels, compatible ultrasonographic findings and exclusion of other etiologies. Blood samples were tested for chemistry, iron profile, and mutational analysis for HFE gene (C282Y, H63D, S65C).


RESULTS
Of the 255 NAFLD patients, the prevalence of peripheral iron overload was 19.2% according to the cutoff level of transferrin saturation (TS) > 45%, and 3.9% of NAFLD patients were having hyperferritinemia over 400 ng/mL. Hyperferritinemia was significantly associated with elevated serum levels of fasting glucose, AST and TS. We found the presence of H63D mutation, either heterozygote or homozygote, among the NAFLD patients with peripheral iron overload.


CONCLUSIONS
The prevalence of peripheral iron overload in the Korean NAFLD patients was not rare, and the presence of H63D mutation among NALFD patients was identified. Further studies on the significance of iron overload or HFE mutation in the pathogenesis of NAFLD are needed.
Lee
Donhun
D
Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
Jeong
Sook Hyang
SH
Lee
Myungjin
M
Cho
Young Ae
YA
Kim
Jin Wook
JW
Park
Youngsoo
Y
Hwang
Jin Hyuk
JH
Kim
Na Young
NY
Lee
Dong Ho
DH
D000328:Adult; D015331:Cohort Studies; D005234:Fatty Liver / Q000209:etiology* / Q000235:genetics; D005260:Female; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D019190:Iron Overload / Q000150:complications / Q000453:epidemiology*; D007723:Korea; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation; D015995:Prevalence; D014168:Transferrin / Q000378:metabolism
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin