A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria.
A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria.
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DOI：
10.1016/j.ymgmr.2022.100939
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发表时间：
2022-12
影响因子：
1.9
通讯作者：
Anderson, Karl E.
中科院分区：
文献类型：
--
作者：
Balwani, Manisha;Naik, Hetanshi;Overbey, Jessica R.;Bonkovsky, Herbert L.;Bissell, D. Montgomery;Wang, Bruce;Phillips, John D.;Desnick, Robert J.;Anderson, Karl E.
使用铁补充剂治疗红细胞生成性原卟啉症（EPP）贫血存在争议，单例报告中报道了铁剂的获益和恶化。目前还没有系统研究来评估这些患者补充铁剂的益处或风险。我们在一项开放标签、单组、介入性研究中评估了口服铁剂治疗在降低 EPP 或 X 连锁原卟啉症 (XLP) 和低铁蛋白患者红细胞原卟啉 (ePPIX) 水平方面的潜在功效。纳入了 16 名经生化和/或基因检测确诊为 EPP 或 XLP 且血清铁蛋白≤30 ng/mL 的患者（≥18 岁）。基线测试包括铁研究、正常肝功能以及血浆卟啉和 ePPIX 水平升高。口服硫酸亚铁 325 毫克，每天两次，持续 12 个月。主要疗效结果是基线与开始铁剂治疗后 12 个月之间总 ePPIX 水平的相对差异。次要指标包括血清铁蛋白、血浆卟啉和临床症状的改善。 13 名患者患有 EPP（8 名女性，5 名男性），3 名患者患有 XLP（均为女性），参与者的平均年龄为 38.8 岁（SD 14.5）。十名患者完成了所有研究访问，限制了结果的解释。在 EPP 患者中，12 名患者中有 9 名 (75%) 在 3 个月时观察到 ePPIX 水平短暂升高。其中 2 名患者在满足 ePPIX 增加 35% 的方案停止规则后停止铁剂治疗。七名患者在研究结束前退出。铁替代后铁蛋白水平升高，表明铁状况有所改善。完成研究的两名 XLP 患者的 ePPIX 均有所下降（相对差异分别为 0.67 和 0.5）。研究结束时，EPP 患者的 ePPIX 没有出现实质性变化（n = 8；中位相对差异：-0.21（IQR：-0.44，0.05）。铁剂治疗最常见的副作用是胃肠道症状。在整个研究过程中，肝功能保持正常。我们的研究表明，口服铁剂治疗补充了铁储备，并暂时增加了一些 EPP 患者的 ePPIX，这可能是由于红细胞生成短暂增加所致，并且可能会减少需要进一步研究 XLP 患者中的 ePPIX，以更好地确定补铁在 EPP 中的作用：NCT02979249。
The use of iron supplementation for anemia in erythropoietic protoporphyria (EPP) is controversial with both benefit and deterioration reported in single case reports. There is no systematic study to evaluate the benefits or risks of iron supplementation in these patients. We assessed the potential efficacy of oral iron therapy in decreasing erythrocyte protoporphyrin (ePPIX) levels in patients with EPP or X-linked protoporphyria (XLP) and low ferritin in an open-label, single-arm, interventional study. Sixteen patients (≥18 years) with EPP or XLP confirmed by biochemical and/or genetic testing, and serum ferritin ≤30 ng/mL were enrolled. Baseline testing included iron studies, normal hepatic function, and elevated plasma porphyrins and ePPIX levels. Oral ferrous sulfate 325 mg twice daily was administered for 12 months. The primary efficacy outcome was the relative difference in total ePPIX level between baseline and 12 months after starting treatment with iron. Secondary measures included improvement in serum ferritin, plasma porphyrins, and clinical symptoms. Thirteen patients had EPP (8 females, 5 males) and 3 had XLP (all females) and the mean age of participants was 38.8 years (SD 14.5). Ten patients completed all study visits limiting interpretation of results. In EPP patients, a transient increase in ePPIX levels was observed at 3 months in 9 of 12 (75%) patients. Iron was discontinued in 2 of these patients after meeting the protocol stopping rule of a 35% increase in ePPIX. Seven patients withdrew before study end. Ferritin levels increased on iron replacement indicating an improvement in iron status. A decrease in ePPIX was seen in both XLP patients who completed the study (relative difference of 0.67 and 0.5 respectively). No substantial changes in ePPIX were seen in EPP patients at the end of the study (n = 8; median relative difference: -0.21 (IQR: −0.44, 0.05). The most common side effects of iron treatment were gastrointestinal symptoms. Hepatic function remained normal throughout the study. Our study showed that oral iron therapy repletes iron stores and transiently increases ePPIX in some EPP patients, perhaps due to a transient increase in erythropoiesis, and may decrease ePPIX in XLP patients. Further studies are needed to better define the role of iron repletion in EPP. Trial registration: NCT02979249.
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DOI：
10.1177/003591577106400609
发表时间：
1971-01-01
期刊：
PROCEEDINGS OF THE ROYAL SOCIETY OF MEDICINE-LONDON
影响因子：
--
作者：
BAKER, H
通讯作者：
BAKER, H
影响因子：
4.2
作者：
Barman-Aksoezen, Jasmin;Girelli, Domenico;Biolcati, Gianfranco
通讯作者：
Biolcati, Gianfranco
影响因子：
2.3
作者：
Barman-Aksoezen, Jasmin;Beguin, Chantal;Minder, Elisabeth I.
通讯作者：
Minder, Elisabeth I.
影响因子：
39.2
作者：
GORDEUK, VR;BRITTENHAM, GM;BICKERS, DR
通讯作者：
BICKERS, DR
影响因子：
10.3
作者：
Whatley, S. D.;Mason, N. G.;Badminton, M. N.
通讯作者：
Badminton, M. N.