Milder M S, Cook J D, Stray S, Finch C A
Medicine (Baltimore). 1980 Jan;59(1):34-49. doi: 10.1097/00005792-198001000-00002.
Experience over the last 20 years with 34 patients with idiopathic hemochromatosis is summarized and the literature is reviewed. Methods are now available which are highly effective in the diagnosis of iron overload and virtually all diagnoses are made antemortem. The nature of the disease has changed through the removal of iron by phlebotomy. Early deaths are limited to patients with severe and rapidly progressive heart disease and to those presenting with neoplasm. The major mortality has shifted to a much later period and the incidence of hepatoma is increasing. There is particular interest at the present time in family studies since excessive iron stores are frequently found within the family. The significance of intermediate degrees of iron overload is unclear, but future attention should be given to the recognition of iron overload long before clinical manifestations appear.
总结了过去20年中34例特发性血色素沉着症患者的经验并回顾了相关文献。现在已有在诊断铁过载方面非常有效的方法，几乎所有诊断都是在生前做出的。通过放血去除铁，疾病的性质已经发生了变化。早期死亡仅限于患有严重且进展迅速的心脏病患者以及患有肿瘤的患者。主要死亡率已转移到更晚的时期，并且肝癌的发病率正在增加。目前家族研究特别受关注，因为在家族中经常发现铁储存过多。中度铁过载的意义尚不清楚，但未来应在临床表现出现之前很久就关注铁过载的识别。
