Centre for the Advancement of Clinical Research, Royal Brisbane and Women's Hospital, Brisbane, The University of Queensland, Brisbane, Australia.
Faculty of Medicine and Biomedical Sciences, The University of Queensland, Brisbane, Australia.
Lancet. 2016 Aug 13;388(10045):706-16. doi: 10.1016/S0140-6736(15)01315-X. Epub 2016 Mar 12.
Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. This leads to increase in intestinal absorption and deposition of excessive amounts of iron in parenchymal cells which in turn results in eventual tissue damage and organ failure. A clinical enigma has been the variable clinical expression with some patients presenting with hepatic cirrhosis at a young age and others almost asymptomatic for life. Research is unravelling this puzzle by identifying environmental factors-especially alcohol consumption-and associated modifying genes that modulate phenotypic expression. A high index of suspicion is required for early diagnosis but this can lead to presymptomatic therapy and a normal life expectancy. Venesection (phlebotomy) therapy remains the mainstay of therapy, but alternative therapies are the subject of current research.
现在已知血色病是一种铁储存疾病，具有遗传异质性，但最终有一个共同的代谢途径导致激素铁调素的产生不当。这导致肠道吸收增加，过多的铁沉积在实质细胞中，进而导致最终的组织损伤和器官衰竭。一个临床谜团是临床表现的可变性，一些患者年轻时出现肝硬化，而另一些患者终生几乎无症状。研究正在通过识别环境因素——特别是饮酒——和相关的修饰基因来揭示这个谜题，这些基因调节表型表达。早期诊断需要高度怀疑，但这可能导致症状前治疗和正常预期寿命。静脉放血（静脉切开术）治疗仍然是主要的治疗方法，但替代疗法是当前研究的主题。
