Iron in erythropoietic protoporphyrias: Dr. Jekyll or Mr. Hyde?

Jasmin Barman-Aksoezen, Xiaoye Schneider-Yin, Elisabeth Minder
2017 Journal of Rare Diseases Research & Treatment  
Erythropoietic protoporphyria consists of two different genetic diseases, erythropoietic protoporphyria (EPP) and X-linked erythropoietic protoporphyria (XLEPP). Both of them are often accompanied by iron deficiency. Iron supplementation appears to be beneficial in XLEPP, although the clinical experience until to date is limited. In EPP, iron supplementation is discussed ambiguously and may cause harm in the majority of cases. This minireview summarizes the limited knowledge on the connections
more » ... on the connections of iron metabolism to regulation of porphyrin and heme synthesis and the influence these regulations may have on disease severity in the protoporphyrias. Further, we propose clinical guidelines, how to manage iron deficiency in both XLEPP and EPP.
doi:10.29245/2572-9411/2017/4.1110 fatcat:5uursiqghfhpjpr36agaafmiqi