Lorcerie Bernard, Audia Sylvain, Samson Maxime, Millière Aurélie, Falvo Nicolas, Leguy-Seguin Vanessa, Berthier Sabine, Bonnotte Bernard
CHU de Dijon, hôpital du Bocage, 2, boulevard du Maréchal-de-Lattre-de-Tassigny, BP 77908, 21079 Dijon cedex, France.
CHU de Dijon, hôpital du Bocage, 2, boulevard du Maréchal-de-Lattre-de-Tassigny, BP 77908, 21079 Dijon cedex, France.
Presse Med. 2017 Dec;46(12 Pt 2):e329-e338. doi: 10.1016/j.lpm.2017.09.028. Epub 2017 Nov 20.
The discovery of hyperferritinemia is often fortuitous, revealed in results from a laboratory screening or follow-up test. The aim of the diagnostic procedure is therefore to identify its cause and to identify or rule out hepatic iron overload, in a three-stage process. In the first step, clinical findings and several simple laboratory tests are sufficient to detect four of the most frequent causes of high ferritin concentrations: alcoholism, inflammatory syndrome, cytolysis, and metabolic syndrome. None of these causes is associated with substantial hepatic iron overload. If transferrin saturation is high (> 50%), hereditary hemochromatosis will be considered in priority. In the second phase, rarer diseases will be sought. Among them, only chronic hematologic diseases (acquired or congenital) and excessive iron intake or infusions (patients on chronic dialysis and high-level athletes) are at risk of iron overload. In the third stage, if a doubt persists about the cause or if the ferritin concentration is very high or continues to rise, it is essential to verify the hepatic iron concentration to rule out overload. The principal examination to guide diagnosis and treatment is hepatic MRI to assess its iron concentration. It is essential to remember that more than 40% of patients with hyperferritinemia have several causes simultaneously present.
高铁蛋白血症的发现往往是偶然的，在实验室筛查或随访检查结果中被揭示。因此，诊断程序的目的是在一个三阶段过程中确定其病因，并确定或排除肝铁过载。第一步，临床发现和几项简单的实验室检查足以检测出血清铁蛋白浓度升高的四种最常见原因：酗酒、炎症综合征、细胞溶解和代谢综合征。这些原因均与严重的肝铁过载无关。如果转铁蛋白饱和度高（>50%），将优先考虑遗传性血色素沉着症。在第二阶段，将寻找更罕见的疾病。其中，只有慢性血液系统疾病（后天性或先天性）以及铁摄入或输注过多（慢性透析患者和高水平运动员）有铁过载的风险。在第三阶段，如果对病因仍有疑问，或者铁蛋白浓度非常高或持续上升，则必须核实肝铁浓度以排除过载。指导诊断和治疗的主要检查是肝脏MRI，以评估其铁浓度。必须记住，超过40%的高铁蛋白血症患者同时存在多种病因。
