Alekya Middela、Arupam Raman、Sandhya Ramakrishna、Raj Ramakrishna、William Alexander、Jose Cuenca、Vinay Kannakurti、A. Manoharan
背景：高铁蛋白血症和铁代谢功能障碍是临床实践中遇到的常见症状。铁过载与铁吸收、运输和储存的代谢有关，可导致严重的终末器官功能障碍。铁超载有多种原因，包括遗传性血色素沉着病 (HH)，这是一组异质性遗传性铁代谢疾病。有多种基因突变导致 HH 的发生，其中稳态铁调节器 (HFE) 基因的突变最常见，约占病例的 80%。大约 20% 的 HH 患者存在非 HFE 基因突变，包括表达血幼素、铁调素、转铁蛋白受体 2 和铁转运蛋白的基因，每种基因在铁代谢中都具有重要功能。高铁蛋白血症的非遗传原因的一些例子包括恶性肿瘤、感染、炎症性疾病或医源性原因（例如频繁输血或静脉输注铁剂），并且同样可能导致铁超负荷的临床表现。因此，在社区临床环境中接受治疗的非 HFE 高铁蛋白血症患者包括罕见突变（非 HFE HH）和高铁蛋白血症的其他非遗传性原因。针对这些非 HFE 患者的推荐长期治疗策略尚未确定。在社区临床环境中接受治疗的非 HFE 高铁蛋白血症患者包括罕见突变（非 HFE HH）和高铁蛋白血症的其他非遗传性原因。针对这些非 HFE 患者的推荐长期治疗策略尚未确定。在社区临床环境中接受治疗的非 HFE 高铁蛋白血症患者包括罕见突变（非 HFE HH）和高铁蛋白血症的其他非遗传性原因。针对这些非 HFE 患者的推荐长期治疗策略尚未确定。
目的：本研究旨在评估在社区接受生活方式改变和静脉注射治疗的非 HFE 高铁蛋白血症患者的临床结果。
Methods: In this one-group pre-test post-test pilot study, 120 patients with non-HFE hyper ferritinaemia were studied. All patients underwent laboratory investigations including serum ferritin/transferrin saturation, inflammatory and tumour markers, Liver Function Studies (LFT), Thyroid Function Studies (TFT), Blood Sugar Level (BSL) and CT scans. Patients were provided with lifestyle modification education; in cases of persistent hyper ferritinaemia (>6 months), venesection therapy was performed. The laboratory-based investigations were repeated after minimum of six months of therapy, and this data was compared to a control group. The statistical analysis was performed using the Wilcoxon test and McNemar test.
Results: Patients pre-treatment showed significantly higher serum ferritin levels compared with controls. 37 patients (31%) demonstrated an elevated ferritin level of ≥1000m mol/L. 74 patients had abnormal LFTs at baseline. While LFTs improved in 24 (32.4%) of these patients with lifestyle modifications, 36 (48.6%) required additional venesection therapy. 14 patients (19%) showed no improvement in LFTs even with addition of venesection therapy to lifestyle modification and successful reduction in serum ferritin. 38% of patients with a BMI >30 responded adequately to intervention, of which 63% required additional venesection therapy. Furthermore, amongst non-obese patients, 57% of patients required additional venesection therapy as lifestyle measures alone was inadequate.
结论：我们的研究表明，在接受生活方式改变和静脉切开疗法治疗后，非 HFE 高铁蛋白血症患者与终末器官功能障碍相关的临床和实验室标志物有显着改善。