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ORIGINAL RESEARCH article

Front. Mol. Biosci.
Sec. Protein Biochemistry for Basic and Applied Sciences
Volume 12 - 2025 | doi: 10.3389/fmolb.2025.1509803
This article is part of the Research Topic Ironome: A Still Untapped Frontier View all 3 articles

Long-term Iron Supplementation in Four Patients with X-linked Erythropoietic Protoporphyria: Associations with Serum Proteins and Erythrocyte Protoporphyrin Levels-A Single-Centre Retrospective Study

Provisionally accepted
Anna-Elisabeth Minder Anna-Elisabeth Minder 1Francesca Granata Francesca Granata 2Franziska van Breemen Franziska van Breemen 3Xiaoye Schneider-Yin Xiaoye Schneider-Yin 3Elisabeth Irene Minder Elisabeth Irene Minder 1Lanja Saleh Lanja Saleh 3Jasmin Barman-Aksözen Jasmin Barman-Aksözen 3,4,5*
  • 1 Division of Endocrinology, Diabetology, and Porphyria; Swiss Reference Centre for Porphyrias, Triemli Hospital, Zurich, Switzerland
  • 2 S.C Medicina ad Indirizzo Metabolico, IRCCS Ca 'Granda Foundation Maggiore Policlinico Hospital, Milan, Lombardy, Italy
  • 3 Institute of Laboratory Medicine; Swiss Reference Centre for Porphyrias, Triemli Hospital, Zurich, Switzerland
  • 4 Division of Metabolism and Children’s Research Center, University Children's Hospital Zurich, Zurich, Switzerland
  • 5 University Research Priority Program “ITINERARE – Innovative Therapies in Rare Diseases”, University of Zurich, ZĂĽrich, Switzerland

The final, formatted version of the article will be published soon.

    X-linked erythropoietic protoporphyria (XLEPP) is an ultra-rare inborn error of the heme biosynthesis characterised by the accumulation of large amounts of protoporphyrin IX (PPIX) and zinc-protoporphyrin in the erythrocytes. PPIX absorbs the energy of the visible light range and upon exposure causes painful phototoxic reactions and tissue damage. In addition, PPIX is excreted via the liver and bile, and can induce liver failure that requires life-saving liver transplantation. Case reports and data from a limited number of patients enrolled in a prospective study indicate that supplementation with iron, a co-substrate of the heme biosynthesis, can decrease blood PPIX concentrations and improve liver damage and photosensitivity in patients with XLEPP. However, longterm data on safety and effectiveness of iron supplementation in XLEPP to support this treatment strategy is limited. Here, we report the experience and long-term effects over up to eight years of iron supplementation of the four patients with XLEPP in the Swiss cohort. Our study shows that iron supplementation was safe and effective in lowering blood PPIX concentrations in our patients in the long term. However, monitoring for adequate dosing and long-term effects is advisable and a standardisation of treatment protocols and international best practice guidelines are needed.

    Keywords: Erythropoietic protoporphyria, X-linked Erythropoietic Protoporphyria, Iron, Safety, effectiveness, Treatment, ALAS2

    Received: 14 Oct 2024; Accepted: 16 Jan 2025.

    Copyright: © 2025 Minder, Granata, van Breemen, Schneider-Yin, Minder, Saleh and Barman-Aksözen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Jasmin Barman-Aksözen, Institute of Laboratory Medicine; Swiss Reference Centre for Porphyrias, Triemli Hospital, Zurich, Switzerland

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