Tang S, Zheng S J, Duan Z P
The First Department of Liver Center, Beijing Youan Hospital, Capital Medical University, Beijing 100069, China.
Zhonghua Gan Zang Bing Za Zhi. 2022 Sep 20;30(9):934-938. doi: 10.3760/cma.j.cn501113-20220717-00384.
Haemochromatosis is characterised by elevated transferrin saturation (TSAT) and progressive iron loading that mainly affects the liver. Early diagnosis and treatment by phlebotomy can prevent cirrhosis, hepatocellular carcinoma, diabetes, arthropathy and other complications. In patients homozygous for p.Cys282Tyr in HFE, provisional iron overload based on serum iron parameters (TSAT >45% and ferritin >200 μg/L in females and TSAT >50% and ferritin >300 μg/L in males and postmenopausal women) is sufficient to diagnose haemochromatosis. In patients with high TSAT and elevated ferritin but other HFE genotypes, diagnosis requires the presence of hepatic iron overload on MRI or liver biopsy. The stage of liver fibrosis and other end-organ damage should be carefully assessed at diagnosis because they determine disease management. Patients with advanced fibrosis should be included in a screening programme for hepatocellular carcinoma. Treatment targets for phlebotomy are ferritin <50 μg/L during the induction phase and <100 μg/L during the maintenance phase.
血色素沉着症的特征是转铁蛋白饱和度（TSAT）升高以及主要影响肝脏的进行性铁负荷增加。通过放血进行早期诊断和治疗可预防肝硬化、肝细胞癌、糖尿病、关节病及其他并发症。在HFE基因p.Cys282Tyr纯合子患者中，基于血清铁参数（女性TSAT>45%且铁蛋白>200μg/L，男性及绝经后女性TSAT>50%且铁蛋白>300μg/L）的临时铁过载足以诊断血色素沉着症。对于TSAT高且铁蛋白升高但为其他HFE基因型的患者，诊断需要MRI或肝活检显示肝铁过载。诊断时应仔细评估肝纤维化阶段及其他终末器官损害情况，因为它们决定疾病管理。晚期纤维化患者应纳入肝细胞癌筛查项目。放血治疗的目标是诱导期铁蛋白<50μg/L，维持期铁蛋白<100μg/L。
