屈楠, 刘婷, 张庆. 铁过载心肌病的再认识[J]. 罕见病研究, 2023, 2(1): 128-134. DOI: 10.12376/j.issn.2097-0501.2023.01.018
引用本文: 屈楠, 刘婷, 张庆. 铁过载心肌病的再认识[J]. 罕见病研究, 2023, 2(1): 128-134. DOI: 10.12376/j.issn.2097-0501.2023.01.018
QU Nan, LIU Ting, ZHANG Qing. Recognition of Iron Overload Cardiomyopathy[J]. Journal of Rare Diseases, 2023, 2(1): 128-134. DOI: 10.12376/j.issn.2097-0501.2023.01.018
Citation: QU Nan, LIU Ting, ZHANG Qing. Recognition of Iron Overload Cardiomyopathy[J]. Journal of Rare Diseases, 2023, 2(1): 128-134. DOI: 10.12376/j.issn.2097-0501.2023.01.018

铁过载心肌病的再认识

Recognition of Iron Overload Cardiomyopathy

  • 摘要: 铁过载心肌病(IOC)是继发于各种原因的心肌细胞内铁贮积而导致的心脏功能障碍,是全身性铁过载疾病的临床表现之一。遗传性血色病和输血依赖的贫血性疾病是IOC最主要的病因,此类患者出现IOC后远期生存率将显著降低。由于IOC在亚洲人群中较为罕见,其临床表现又缺乏特异性,早期诊断较为困难。诊断IOC应关注两类特殊人群,即在不明原因的心力衰竭患者中寻找铁过载的线索并进一步明确是否IOC;在有铁过载高危因素或已确诊铁过载的患者中定期监测是否发生IOC。推荐血清铁蛋白用于铁过载筛查,心脏磁共振T2*弛豫时间(T2*值)用于心肌组织铁过载的确诊。静脉放血、铁螯合剂等降低机体铁负荷的措施不仅可以预防IOC,也有机会使疾病在早期阶段得到逆转或延缓其进展,因此,早诊断、早治疗对改善IOC预后至关重要。本综述从病因、发病机制、临床表现、诊断方法和治疗手段多维度介绍IOC,以帮助临床医师提高筛查和诊断IOC的意识和能力。

     

    Abstract: Iron overload cardiomyopathy (IOC) is a type of cardiac dysfunction caused by several factors resulting in iron overload in the myocardium. Two major causes of IOC include hereditary hemochromatosis and transfusion-dependent anemia. IOC significantly reduces long-term survival of patients. Since IOC is a rare disease in Asian populations that also lacks etiology-specific manifestations, early diagnoses in clinical practice are challenging. Two groups of patients with high risk of IOC should be further investigated: those who present heart failure of unknown origin will be screened for iron overload followed by confirmation of IOC; and those who have high risk of iron overload or an established diagnosis will be monitored for the development of IOC. Serum ferritin is recommended as the first-line screening test for iron overload, while cardiac magnetic resonance T2* should be used to confirm iron overload in the myocardium. Phlebotomy and iron chelating agents can effectively remove the extra iron from the body, preventing IOC, as well as reverse the disease at an early stage and slow down its progession. Timely diagnosis and treatment is critical in improving the prognosis of patients with IOC. Therefore, this review aims to help clinicians to understand IOC in multiple dimensions including pathogenesis, clinical manifestations, diagnostic methods and treatment choices.

     

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