Castiella Agustin, Zapata Eva, Alústiza José M
Agustin Castiella, Eva Zapata, Gastroenterology Service, Mendaro Hospital, Mendaro 20850, Spain.
World J Hepatol. 2010 Jul 27;2(7):251-5. doi: 10.4254/wjh.v2.i7.251.
Advances in recent years in the understanding of, and the genetic diagnosis of hereditary hemochromatosis (HH) have changed the approach to iron overload hereditary diseases. The ability to use a radiologic tool (MRI) that accurately provides liver iron concentration determination, and the presence of non-invasive serologic markers for fibrosis prediction (serum ferritin, platelet count, transaminases, etc), have diminished the need for liver biopsy for diagnosis and prognosis of this disease. Consequently, the role of liver biopsy in iron metabolism disorders is changing. Furthermore, the irruption of transient elastography to assess liver stiffness, and, more recently, the ability to determine liver fibrosis by means of MRI elastography will change this role even more, with a potential drastic decline in hepatic biopsies in years to come. This review will provide a brief summary of the different non-invasive methods available nowadays for diagnosis and prognosis in HH, and point out potential new techniques that could come about in the next years for fibrosis prediction, thus avoiding the need for liver biopsy in a greater number of patients. It is possible that liver biopsy will remain useful for the diagnosis of associated diseases, where other non-invasive means are not possible, or for those rare cases displaying discrepancies between radiological and biochemical markers.
近年来,在遗传性血色素沉着症(HH)的认识及基因诊断方面取得的进展,改变了对遗传性铁过载疾病的处理方式。能够使用一种可准确测定肝脏铁浓度的放射学工具(MRI),以及存在用于预测纤维化的非侵入性血清学标志物(血清铁蛋白、血小板计数、转氨酶等),减少了为诊断和评估该疾病预后而进行肝活检的必要性。因此,肝活检在铁代谢紊乱中的作用正在发生变化。此外,瞬时弹性成像技术用于评估肝脏硬度,以及最近通过MRI弹性成像技术测定肝纤维化的能力,将进一步改变这种作用,未来几年肝活检的数量可能会大幅下降。本综述将简要总结目前可用于HH诊断和预后的不同非侵入性方法,并指出未来几年可能出现的用于预测纤维化的潜在新技术,从而避免更多患者需要进行肝活检。肝活检可能仍有助于诊断其他非侵入性方法无法诊断的相关疾病,或用于那些放射学和生化标志物存在差异的罕见病例。