Coincidence or Biological Link? Hereditary Hemochromatosis as a Potential Risk Factor for Multiple Sclerosis

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.