Hash R B
Department of Family Medicine, Mercer University School of Medicine, Macon, GA 31207, USA.
J Am Board Fam Pract. 2001 Jul-Aug;14(4):266-73.
The understanding of hereditary hemochromatosis, along with the availability of genetic testing, is changing the approach to diagnosis of the disease.
A MEDLINE search was performed using multiple key words related to hemochromatosis and iron metabolism.
Most cases of hereditary hemochromatosis are caused by a single mutation to the HFE gene, resulting in unregulated dietary iron uptake. The signs and symptoms of hereditary hemochromatosis are nonspecific and common in family practice settings. Measuring the transferrin saturation level is a cost-effective way to screen for suspected disease. Subsequent workup includes serum ferritin levels, hepatic enzyme levels, and HFE gene testing, or liver biopsy. HFE gene testing can provide a definitive diagnosis in many patients. Liver biopsy is useful and indicated when liver disease is clinically evident.
For many patients, hereditary hemochromatosis can be diagnosed and treated in the physician's office. After iron mobilization with therapeutic phlebotomy, most patients will require phlebotomy 2 to 4 times each year throughout their lifetime. Treatment before organ toxicity occurs leads to a normal life span. Treatment after symptoms appear is less effective but can improve some signs and symptoms of iron toxicity.
对遗传性血色素沉着症的认识以及基因检测的可用性正在改变该疾病的诊断方法。
使用与血色素沉着症和铁代谢相关的多个关键词在MEDLINE数据库中进行检索。
大多数遗传性血色素沉着症病例是由HFE基因突变引起的，导致膳食铁吸收不受调节。遗传性血色素沉着症的体征和症状不具有特异性，在家庭医疗环境中很常见。测量转铁蛋白饱和度水平是筛查疑似疾病的一种经济有效的方法。后续检查包括血清铁蛋白水平、肝酶水平、HFE基因检测或肝活检。HFE基因检测可为许多患者提供明确诊断。当临床上有明显肝病时，肝活检是有用的且是必要的。
对于许多患者来说，遗传性血色素沉着症可以在医生办公室进行诊断和治疗。通过治疗性放血动员铁后，大多数患者一生中每年需要进行2至4次放血。在器官毒性出现之前进行治疗可使患者寿命正常。症状出现后进行治疗效果较差，但可以改善一些铁毒性的体征和症状。
