Jacobs E M G, de Vries R A, Elving L D, Stalenhoef A F H, Swinkels D W
Afd. Algemene Inwendige Geneeskunde, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen.
Ned Tijdschr Geneeskd. 2003 Apr 5;147(14):666-70.
In a 49-year-old man and a 28-year-old woman, both of whom complained of fatigue, HFE-gen related respectively non-HFE-gen related primary haemochromatosis was diagnosed, based on the elevated serum transferrin saturation, the elevated serum ferritin levels, DNA studies and liver biopsy with qualitative respectively quantitative iron measurements. Their complaints diminished after bloodletting. Three women respectively 64, 61 and 46 years of age, were also suspected of primary haemochromatosis. The latter two presented with complaints of fatigue and malaise and chronic hepatitis C respectively. All three showed an elevated serum transferrin saturation and serum ferritin concentration. Further investigation showed the presence of secundary iron overload. Causes for it being excessive alcohol consumption, overweight and a poorly regulated diabetes mellitus type 2, and chronic hepatitis C respectively. These patients received specific therapy. Primary haemochromatosis is a common disorder of iron metabolism in individuals of Northern European descent. Diagnosis is based on an elevated serum transferrin saturation in combination with both elevated serum ferritin levels and homozygosity for the Cys282Tyr-mutation in the HFE-gen. The presence of an elevated serum transferrin saturation in combination with an elevated serum ferritin level is not always sufficient for the diagnosis, since these may be affected by other disorders. Moreover, iron overload may be caused by a form of haemochromatosis that is not HFE-related. In case of doubt as to the diagnosis, histological examination of the liver with a qualitative or quantitative iron determination is the golden standard.
一名49岁男性和一名28岁女性均主诉疲劳，分别基于血清转铁蛋白饱和度升高、血清铁蛋白水平升高、DNA研究以及肝活检（分别进行定性和定量铁测量），诊断为与HFE基因相关及非HFE基因相关的原发性血色素沉着症。放血治疗后他们的症状减轻。另外三名分别为64岁、61岁和46岁的女性也被怀疑患有原发性血色素沉着症。后两名分别表现为疲劳、不适以及慢性丙型肝炎。三人的血清转铁蛋白饱和度和血清铁蛋白浓度均升高。进一步检查显示存在继发性铁过载，其原因分别为过量饮酒、超重和2型糖尿病控制不佳以及慢性丙型肝炎。这些患者接受了特异性治疗。原发性血色素沉着症是北欧血统个体中常见的铁代谢紊乱疾病。诊断基于血清转铁蛋白饱和度升高，同时伴有血清铁蛋白水平升高以及HFE基因Cys282Tyr突变纯合子。血清转铁蛋白饱和度升高同时伴有血清铁蛋白水平升高并不总是足以确诊，因为这些指标可能受其他疾病影响。此外，铁过载可能由非HFE相关的血色素沉着症形式引起。诊断存疑时，肝脏组织学检查并进行定性或定量铁测定是金标准。
