a Department of Internal Medicine , Mount Sinai Beth Israel , New York , NY , USA.
b Department of Radiology , Icahn School of Medicine at Mount Sinai , New York , NY , USA.
Expert Rev Gastroenterol Hepatol. 2018 Aug;12(8):767-778. doi: 10.1080/17474124.2018.1496016. Epub 2018 Jul 19.
Hereditary hemochromatosis (HH) is an autosomal recessive disorder that occurs in approximately 1 in 200-250 individuals. Mutations in the HFE gene lead to excess iron absorption. Excess iron in the form of non-transferrin-bound iron (NTBI) causes injury and is readily uptaken by cardiomyocytes, pancreatic islet cells, and hepatocytes. Symptoms greatly vary among patients and include fatigue, abdominal pain, arthralgias, impotence, decreased libido, diabetes, and heart failure. Untreated hemochromatosis can lead to chronic liver disease, fibrosis, cirrhosis, and hepatocellular carcinoma (HCC). Many invasive and noninvasive diagnostic tests are available to aid in diagnosis and treatment. MRI has emerged as the reference standard imaging modality for the detection and quantification of hepatic iron deposition, as ultrasound (US) is unable to detect iron overload and computed tomography (CT) findings are nonspecific and influenced by multiple confounding variables. If caught and treated early, HH disease progression can significantly be altered. Area covered: The data on Hemochromatosis, iron overload, and MRI were gathered by searching PubMed. Expert commentary: MRI is a great tool for diagnosis and management of iron overload. It is safe, effective, and a standard protocol should be included in diagnostic algorithms of future treatment guidelines.
遗传性血色素沉着症(HH)是一种常染色体隐性遗传病,在大约每 200-250 个人中就有 1 例发生。HFE 基因突变导致铁吸收过多。以非转铁蛋白结合铁(NTBI)形式存在的多余铁会造成损伤,并且很容易被心肌细胞、胰岛细胞和肝细胞摄取。患者的症状差异很大,包括疲劳、腹痛、关节痛、阳痿、性欲降低、糖尿病和心力衰竭。未经治疗的血色素沉着症可导致慢性肝病、纤维化、肝硬化和肝细胞癌(HCC)。有许多侵入性和非侵入性诊断测试可用于辅助诊断和治疗。MRI 已成为检测和量化肝脏铁沉积的参考标准成像方式,因为超声(US)无法检测铁过载,而计算机断层扫描(CT)的结果是非特异性的,并且受多种混杂因素的影响。如果及早发现并治疗,HH 疾病的进展可以得到显著改变。涵盖领域:通过搜索 PubMed 收集了关于血色素沉着症、铁过载和 MRI 的数据。专家评论:MRI 是诊断和管理铁过载的重要工具。它安全、有效,应该包含在未来治疗指南的诊断算法标准中。