Olynyk John K, Gan Eng, Tan Terrence
School of Medicine and Pharmacology, Faculty of Medicine, University of Western Australia, Nedlands, Western Australia.
Clin Gastroenterol Hepatol. 2009 Mar;7(3):359-62. doi: 10.1016/j.cgh.2008.11.010. Epub 2008 Nov 21.
BACKGROUND & AIMS: Hyperferritinemia is a common abnormality. This study determined the prevalence of hepatic iron overload in subjects of northern European origin with hyperferritinemia.
Fifty-two consecutive subjects referred for evaluation of suspected iron overload (serum ferritin level >350 microg/L) were divided into 3 groups: group 1, increased transferrin saturation and no significant hemochromatosis gene product (HFE) mutations (N = 17); group 2, increased transferrin saturation and C282Y homozygosity or C282Y/H63D compound heterozygosity (N = 22); and group 3, normal transferrin saturation and no significant HFE mutations (N = 13). All subjects underwent magnetic resonance R2 relaxometry for quantitation of hepatic iron concentration (HIC).
The HIC was significantly higher in group 2 subjects (123 +/- 22 micromol/g) compared with groups 1 and 3 subjects (39 +/- 4 and 36 +/- 5 micromol/g, respectively) (P < .01). Nine of 22 subjects in group 2 had an increase of their HIC to greater than 3 times the upper limit of normal compared with none in the other 2 groups (P < .01).
An increase of HIC to greater than 3 times the upper limit of normal is highly unlikely in hyperferritinemic subjects who do not have HFE-related hereditary hemochromatosis or causes of secondary iron overload.
高铁蛋白血症是一种常见的异常情况。本研究确定了北欧血统的高铁蛋白血症患者肝铁过载的患病率。
连续52例因疑似铁过载（血清铁蛋白水平>350μg/L）而接受评估的患者被分为3组：第1组，转铁蛋白饱和度升高且无明显的血色素沉着症基因产物（HFE）突变（N = 17）；第2组，转铁蛋白饱和度升高且为C282Y纯合子或C282Y/H63D复合杂合子（N = 22）；第3组，转铁蛋白饱和度正常且无明显的HFE突变（N = 13）。所有患者均接受磁共振R2弛豫测量以定量肝铁浓度（HIC）。
与第1组和第3组患者（分别为39±4和36±5μmol/g）相比，第2组患者的HIC显著更高（123±22μmol/g）（P <.01）。第2组的22例患者中有9例的HIC升高至正常上限的3倍以上，而其他2组均无此情况（P <.01）。
对于没有HFE相关遗传性血色素沉着症或继发性铁过载原因的高铁蛋白血症患者，HIC升高至正常上限的3倍以上的可能性极小。
