Makker Jasbir, Hanif Ahmad, Bajantri Bharat, Chilimuri Sridhar
Division of Gastroenterology, Albert Einstein College of Medicine of Yeshiva University, Bronx, N.Y., USA ; Department of Medicine, Bronx Lebanon Hospital Center, Albert Einstein College of Medicine of Yeshiva University, Bronx, N.Y., USA.
Department of Medicine, Bronx Lebanon Hospital Center, Albert Einstein College of Medicine of Yeshiva University, Bronx, N.Y., USA.
Case Rep Gastroenterol. 2015 Jan 15;9(1):7-14. doi: 10.1159/000373883. eCollection 2015 Jan-Apr.
Disturbances in iron metabolism can be genetic or acquired and accordingly manifest as primary or secondary iron overload state. Organ damage may result from iron overload and manifest clinically as cirrhosis, diabetes mellitus, arthritis, endocrine abnormalities and cardiomyopathy. Hemochromatosis inherited as an autosomal recessive disorder is the most common genetic iron overload disorder. Expert societies recommend screening of asymptomatic and symptomatic individuals with hemochromatosis by obtaining transferrin saturation (calculated as serum iron/total iron binding capacity × 100). Further testing for the hemochromatosis gene is recommended if transferrin saturation is >45% with or without hyperferritinemia. However, management of individuals with low or normal transferrin saturation is not clear. In patients with features of iron overload and high serum ferritin levels, low or normal transferrin saturation should alert the physician to other - primary as well as secondary - causes of iron overload besides hemochromatosis. We present here a possible approach to patients with hyperferritinemia but normal transferrin saturation.
铁代谢紊乱可分为遗传性或后天性，相应地表现为原发性或继发性铁过载状态。铁过载可能导致器官损伤，临床上表现为肝硬化、糖尿病、关节炎、内分泌异常和心肌病。遗传性血色素沉着症作为一种常染色体隐性疾病，是最常见的遗传性铁过载疾病。专家协会建议，通过检测转铁蛋白饱和度（计算方法为血清铁/总铁结合力×100）对血色素沉着症的无症状和有症状个体进行筛查。如果转铁蛋白饱和度>45%，无论是否伴有高铁蛋白血症，都建议进一步检测血色素沉着症基因。然而，对于转铁蛋白饱和度低或正常的个体，其管理方法尚不清楚。对于有铁过载特征且血清铁蛋白水平高的患者，转铁蛋白饱和度低或正常应提醒医生，除血色素沉着症外，还有其他原发性和继发性铁过载原因。我们在此介绍一种针对高铁蛋白血症但转铁蛋白饱和度正常患者的可能处理方法。
