Interplay between iron metabolism, inflammation, and EPO-ERFE-hepcidin axis in RDEB-associated chronic anemia

Recessive dystrophic epidermolysis bullosa (RDEB) is a genodermatosis characterized by severe cutaneous and mucosal fragility, and frequently complicated by multifactorial chronic anemia that responds poorly to conventional therapies. This cross-sectional study investigates the factors contributing...

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Detalles Bibliográficos
Autores: Quintana Castanedo, Lucía, Jiménez Pérez, Eva, Valencia Mahón, Jaris, Zuluaga Arias, María del Pilar, Vicente López, María Ángeles, Sacedón Ayuso, Rosa
Tipo de recurso: artículo
Fecha de publicación:2025
País:España
Institución:Universidad Complutense de Madrid (UCM)
Repositorio:Docta Complutense
Idioma:inglés
OAI Identifier:oai:docta.ucm.es:20.500.14352/121422
Acceso en línea:https://hdl.handle.net/20.500.14352/121422
Access Level:acceso abierto
Palabra clave:616.15
616.155.194
616.63
577.1
616-092
anemia of inflammation
iron deficiency
hepcidin regulation
erythropoietin (EPO)
Erythroferrone (ERFE)
Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Ciencias Biomédicas
32 Ciencias Médicas
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spelling Interplay between iron metabolism, inflammation, and EPO-ERFE-hepcidin axis in RDEB-associated chronic anemiaQuintana Castanedo, LucíaJiménez Pérez, EvaValencia Mahón, JarisZuluaga Arias, María del PilarVicente López, María ÁngelesSacedón Ayuso, Rosa616.15616.155.194616.63577.1616-092anemia of inflammationiron deficiencyhepcidin regulationerythropoietin (EPO)Erythroferrone (ERFE)Recessive Dystrophic Epidermolysis Bullosa (RDEB)Ciencias Biomédicas32 Ciencias MédicasRecessive dystrophic epidermolysis bullosa (RDEB) is a genodermatosis characterized by severe cutaneous and mucosal fragility, and frequently complicated by multifactorial chronic anemia that responds poorly to conventional therapies. This cross-sectional study investigates the factors contributing to anemia in RDEB by analyzing a representative cohort, that was stratified by disease severity, anemia, and iron status, to examine their hematological parameters, cytokine profile, and the erythropoietin-erythroferrone-hepcidin (EPO-ERFE-hepcidin) axis. Anemia was present in 50% of the cohort. Hemoglobin levels showed a strong negative correlation with the percentage of body surface area affected and C-reactive protein levels (CRP), identifying these as anemia risk factors in RDEB. Moderate-severe inflammation (CRP ≥ 15 mg/L) was observed in all patients with anemia, but no specific cytokine profile was linked with anemia risk because of variability in interleukin-6 (IL-6), IL-1β, IL-10, tumor necrosis factor, and interferon-γ levels. The regulation of the EPO-ERFE-hepcidin axis showed discrepancies with the patterns expected based on patients' anemia severity and iron status. According to the reticulocyte production index, an inadequate bone marrow response was observed in 90% of patients with anemia, irrespective of EPO levels. Patients with functional or true iron deficiency had higher ERFE levels, although ERFE showed no consistent correlation with EPO and was elevated in both patients with anemia and those without anemia. Elevated hepcidin was primarily linked to the highest ferritin levels, mostly in patients with a history of iron infusions and/or transfusions. These findings highlight the need for personalized, targeted approaches that address the complex interplay between inflammation and iron dysregulation, to improve anemia management in RDEB and other chronic inflammatory conditions.ElsevierUniversidad Complutense de Madrid20252025-05-1320252025-05-13journal articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/20.500.14352/121422reponame:Docta Complutenseinstname:Universidad Complutense de Madrid (UCM)InglésengAgencia Estatal de Investigación http://dx.doi.org/10.13039/501100011033 Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020 PID2020-119792RB-I00 HACIA UNA MEJOR COMPRENSION DE LAS BASES BIOLOGICAS DE LA EB Y EL DESARROLLO DE TERAPIAS MODIFICADORAS Y CURATIVAS PARA EL MANEJO DE LAS CONSECUENCIAS CUTANEAS GRAVESopen accesshttp://purl.org/coar/access_right/c_abf2Attribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:docta.ucm.es:20.500.14352/1214222026-06-02T12:44:21Z
dc.title.none.fl_str_mv Interplay between iron metabolism, inflammation, and EPO-ERFE-hepcidin axis in RDEB-associated chronic anemia
title Interplay between iron metabolism, inflammation, and EPO-ERFE-hepcidin axis in RDEB-associated chronic anemia
spellingShingle Interplay between iron metabolism, inflammation, and EPO-ERFE-hepcidin axis in RDEB-associated chronic anemia
Quintana Castanedo, Lucía
616.15
616.155.194
616.63
577.1
616-092
anemia of inflammation
iron deficiency
hepcidin regulation
erythropoietin (EPO)
Erythroferrone (ERFE)
Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Ciencias Biomédicas
32 Ciencias Médicas
title_short Interplay between iron metabolism, inflammation, and EPO-ERFE-hepcidin axis in RDEB-associated chronic anemia
title_full Interplay between iron metabolism, inflammation, and EPO-ERFE-hepcidin axis in RDEB-associated chronic anemia
title_fullStr Interplay between iron metabolism, inflammation, and EPO-ERFE-hepcidin axis in RDEB-associated chronic anemia
title_full_unstemmed Interplay between iron metabolism, inflammation, and EPO-ERFE-hepcidin axis in RDEB-associated chronic anemia
title_sort Interplay between iron metabolism, inflammation, and EPO-ERFE-hepcidin axis in RDEB-associated chronic anemia
dc.creator.none.fl_str_mv Quintana Castanedo, Lucía
Jiménez Pérez, Eva
Valencia Mahón, Jaris
Zuluaga Arias, María del Pilar
Vicente López, María Ángeles
Sacedón Ayuso, Rosa
author Quintana Castanedo, Lucía
author_facet Quintana Castanedo, Lucía
Jiménez Pérez, Eva
Valencia Mahón, Jaris
Zuluaga Arias, María del Pilar
Vicente López, María Ángeles
Sacedón Ayuso, Rosa
author_role author
author2 Jiménez Pérez, Eva
Valencia Mahón, Jaris
Zuluaga Arias, María del Pilar
Vicente López, María Ángeles
Sacedón Ayuso, Rosa
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Universidad Complutense de Madrid
dc.subject.none.fl_str_mv 616.15
616.155.194
616.63
577.1
616-092
anemia of inflammation
iron deficiency
hepcidin regulation
erythropoietin (EPO)
Erythroferrone (ERFE)
Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Ciencias Biomédicas
32 Ciencias Médicas
topic 616.15
616.155.194
616.63
577.1
616-092
anemia of inflammation
iron deficiency
hepcidin regulation
erythropoietin (EPO)
Erythroferrone (ERFE)
Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Ciencias Biomédicas
32 Ciencias Médicas
description Recessive dystrophic epidermolysis bullosa (RDEB) is a genodermatosis characterized by severe cutaneous and mucosal fragility, and frequently complicated by multifactorial chronic anemia that responds poorly to conventional therapies. This cross-sectional study investigates the factors contributing to anemia in RDEB by analyzing a representative cohort, that was stratified by disease severity, anemia, and iron status, to examine their hematological parameters, cytokine profile, and the erythropoietin-erythroferrone-hepcidin (EPO-ERFE-hepcidin) axis. Anemia was present in 50% of the cohort. Hemoglobin levels showed a strong negative correlation with the percentage of body surface area affected and C-reactive protein levels (CRP), identifying these as anemia risk factors in RDEB. Moderate-severe inflammation (CRP ≥ 15 mg/L) was observed in all patients with anemia, but no specific cytokine profile was linked with anemia risk because of variability in interleukin-6 (IL-6), IL-1β, IL-10, tumor necrosis factor, and interferon-γ levels. The regulation of the EPO-ERFE-hepcidin axis showed discrepancies with the patterns expected based on patients' anemia severity and iron status. According to the reticulocyte production index, an inadequate bone marrow response was observed in 90% of patients with anemia, irrespective of EPO levels. Patients with functional or true iron deficiency had higher ERFE levels, although ERFE showed no consistent correlation with EPO and was elevated in both patients with anemia and those without anemia. Elevated hepcidin was primarily linked to the highest ferritin levels, mostly in patients with a history of iron infusions and/or transfusions. These findings highlight the need for personalized, targeted approaches that address the complex interplay between inflammation and iron dysregulation, to improve anemia management in RDEB and other chronic inflammatory conditions.
publishDate 2025
dc.date.none.fl_str_mv 2025
2025-05-13
2025
2025-05-13
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/20.500.14352/121422
url https://hdl.handle.net/20.500.14352/121422
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv Agencia Estatal de Investigación http://dx.doi.org/10.13039/501100011033 Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020 PID2020-119792RB-I00 HACIA UNA MEJOR COMPRENSION DE LAS BASES BIOLOGICAS DE LA EB Y EL DESARROLLO DE TERAPIAS MODIFICADORAS Y CURATIVAS PARA EL MANEJO DE LAS CONSECUENCIAS CUTANEAS GRAVES
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:Docta Complutense
instname:Universidad Complutense de Madrid (UCM)
instname_str Universidad Complutense de Madrid (UCM)
reponame_str Docta Complutense
collection Docta Complutense
repository.name.fl_str_mv
repository.mail.fl_str_mv
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