Lorcerie B, Audia S, Samson M, Millière A, Falvo N, Leguy-Seguin V, Berthier S, Bonnotte B
Service de médecine interne et immunologie clinique, hôpital du Bocage, CHU de Dijon, 2, boulevard du Maréchal-de-Lattre-de-Tassigny, BP 77908, 21079 Dijon cedex, France.
Service de médecine interne et immunologie clinique, hôpital du Bocage, CHU de Dijon, 2, boulevard du Maréchal-de-Lattre-de-Tassigny, BP 77908, 21079 Dijon cedex, France.
Rev Med Interne. 2015 Aug;36(8):522-9. doi: 10.1016/j.revmed.2014.12.007. Epub 2015 Jan 29.
The discovery of a hyperferritinemia is most of the time fortuitous. The diagnostic approach aims at looking for the responsible etiology and at verifying if an iron hepatic overload is present or not. Three diagnostic steps are proposed. The clinical elements and a few straightforward biological tests are sufficient at first to identify one of the four main causes: alcoholism, inflammatory syndrome, cytolysis, and metabolic syndrome. None of these causes is associated with a significant iron hepatic overload. If the transferring saturation coefficient is raised (>50%) a hereditary hemochromatosis should be discussed. Secondly, less common disorders will be discussed. Among these, only the chronic hematological disorders either acquired or congenital are at risk of iron hepatic overload. Thirdly, if a doubt persists in the etiologic research, and the serum ferritin level is very high or continues to rise, it is essential to verify that there is no iron hepatic overload. For that purpose, the MRI with study of the iron overload is the main test, which will guide the therapeutic attitude. Identification of more than a single etiology occurs in more than 40% of the cases.
高铁蛋白血症的发现大多时候是偶然的。诊断方法旨在寻找病因，并确认是否存在肝脏铁过载。建议采取三个诊断步骤。临床症状和一些简单的生物学检查起初足以确定四个主要病因之一：酗酒、炎症综合征、细胞溶解和代谢综合征。这些病因均与显著的肝脏铁过载无关。如果转铁蛋白饱和系数升高（>50%），则应考虑遗传性血色素沉着症。其次，将讨论不太常见的疾病。其中，只有后天获得性或先天性慢性血液系统疾病有肝脏铁过载的风险。第三，如果病因研究仍存在疑问，且血清铁蛋白水平非常高或持续升高，则必须确认不存在肝脏铁过载。为此，研究铁过载的磁共振成像（MRI）是主要检查手段，它将指导治疗方案。超过40%的病例存在不止一种病因。
