Division of Hematology, Knight Cancer Institute, Oregon Health and Science University, Portland, OR, USA.
Vox Sang. 2020 May;115(4):255-262. doi: 10.1111/vox.12896. Epub 2020 Feb 20.
Hereditary haemochromatosis, one of the most common genetic disorders in the United States, can produce systemic iron deposition leading to end-organ failure and death if untreated. The diagnosis of this condition can be challenging as elevated serum ferritin may be seen in a variety of conditions, including acute and chronic liver disease, a range of systemic inflammatory states, and both primary and secondary iron overload syndromes. Appropriate and timely diagnosis of haemochromatosis is paramount as simple interventions, such as phlebotomy, can prevent or reverse organ damage from iron overload. The recognition of other aetiologies of elevated ferritin is also vital to ensure that appropriate intervention is provided and phlebotomy only utilized in patients who require it. In this review, we summarize the existing data on the work up and management of hereditary haemochromatosis and present a practical algorithm for the diagnosis and management of this disease.
遗传性血色素沉着症是美国最常见的遗传疾病之一，如果不治疗，可导致全身性铁沉积，进而导致终末器官衰竭和死亡。由于血清铁蛋白升高可见于多种情况，包括急性和慢性肝病、一系列全身性炎症状态以及原发性和继发性铁过载综合征，因此该疾病的诊断具有一定挑战性。遗传性血色素沉着症的及时、恰当诊断至关重要，因为简单的干预措施（如放血疗法）可预防或逆转铁过载导致的器官损伤。识别铁蛋白升高的其他病因也至关重要，以确保提供适当的干预措施，并仅在需要的患者中使用放血疗法。在这篇综述中，我们总结了遗传性血色素沉着症的现有数据，提出了一种实用的诊断和管理该病的算法。
