COINCIDENCE OR BIOLOGICAL LINK? HEREDITARY HEMOCHROMATOSIS AS A POTENTIAL RISK FACTOR FOR MULTIPLE SCLEROSIS

Maciej Muraszko-Kuźma; Krystyna Klahs; Kaja Nieradka; Patryk  Twardy; Weronika Wagner; Jakub  Białożyt; Anna Dębniak; Maciej  Gutarowicz; Patryk  Modelewski; Michał  Armatys

doi:10.31435/ijitss.3(51).2026.5973

Authors

Maciej Muraszko-Kuźma District Hospital in Limanowa of the Name of Divine Mercy, Poland https://orcid.org/0009-0003-4812-1493
Krystyna Klahs Independent Public Specialist Health Care Facility in Lębork, Poland https://orcid.org/0009-0001-7747-6854
Kaja Nieradka Clinical Provincial Hospital of Saint Jadwiga the Queen in Rzeszów, Poland https://orcid.org/0009-0009-4373-3726
Patryk Twardy Clinical Provincial Hospital of Saint Jadwiga the Queen in Rzeszów, Poland https://orcid.org/0009-0009-5510-3545
Weronika Wagner Clinical Provincial Hospital of Saint Jadwiga the Queen in Rzeszów, Poland https://orcid.org/0009-0001-0269-0418
Jakub Białożyt University Clinical Hospital No. 2 PUM in Szczecin, Poland https://orcid.org/0009-0000-2721-6694
Anna Dębniak University Clinical Hospital No. 2 PUM in Szczecin, Poland https://orcid.org/0009-0009-8511-3912
Maciej Gutarowicz Independent Public Provincial Hospital in Szczecin, Poland https://orcid.org/0009-0003-5139-3756
Patryk Modelewski Clinical Hospital No. 2 PUM in Szczecin, Poland https://orcid.org/0009-0009-0682-4901
Michał Armatys UNO-MED Medical Center, Tarnów, Poland https://orcid.org/0009-0003-9647-8091

DOI:

https://doi.org/10.31435/ijitss.3(51).2026.5973

Keywords:

Multiple Sclerosis; Hereditary Hemochromatosis; Iron Metabolism; Oxidative Stress; Ferroptosis; HFE Mutation

Abstract

Disorders of Iron metabolism may play an important role in the pathogenesis of multiple sclerosis (MS), alongside others, by increasing oxidative stress, inflammatory processes or the damage of oligodendrocytes. Excessive iron accumulation, observed in congenital hemochromatosis , might promote demyelinating processes which suggests a potential biological link between these conditions. This theme presents the case of a 41-year-old man, who’s diagnosed with congenital hemochromatosis associated with a mutation in the HFE gene and demyelinating lesions that suggests multiple sclerosis which follows extensive diagnostic testing, performed as part of preventing set of tests. Laboratory tests revealed significantly elevated levels of iron and ferritin, also brain MRI shown multiple demyelinating lesions typical for MS. Genetic testing confirmed a homozygous c.845G>A mutation in the HFE gene. Immunomodulating treatment with oftamumab and phlebotomy were implemented, resulting in improvement of iron metabolism parameters. This described case may indicate the potential involvement of iron homeostasis disorders in the pathogenesis demyelinating processes, but cause effect bond remains ambiguous. Further studies are required to assess the iron overload role in the development and course of multiple sclerosis and the potential importance of hemochromatosis as a disease-modifying factor.

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