Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications

Blood Rev. 2016 Nov;30(6):431-437. doi: 10.1016/j.blre.2016.05.003. Epub 2016 May 27.


Gaucher disease (GD) is characterized by large amounts of lipid-storing macrophages and is associated with accumulation of iron. High levels of ferritin are a hallmark of the disease. The precise mechanism underlying the changes in iron metabolism has not been elucidated. A systematic search was conducted to summarize available evidence from the literature on iron metabolism in GD and its potential pathophysiological implications. We conclude that in GD, a chronic low grade inflammation state can lead to high ferritin levels and increased hepcidin transcription with subsequent trapping of ferritin in macrophages. Extensive GD manifestations with severe anemia or extreme splenomegaly can lead to a situation of iron-overload resembling hemochromatosis. We hypothesize that specifically this latter situation carries a risk for the occurrence of associated conditions such as the increased cancer risk, metabolic syndrome and neurodegeneration.

Keywords: Carcinogenesis; Ferritin; Gaucher disease; Hepcidin; Iron metabolism.

Publication types

  • Meta-Analysis
  • Review

MeSH terms

  • Ferritins / blood
  • Ferritins / metabolism*
  • Gaucher Disease / complications
  • Gaucher Disease / etiology*
  • Gaucher Disease / metabolism*
  • Gaucher Disease / therapy
  • Hepcidins / blood
  • Hepcidins / metabolism
  • Humans
  • Iron / metabolism*
  • Iron Overload / etiology
  • Iron Overload / therapy
  • Metabolic Syndrome / etiology
  • Metabolic Syndrome / therapy
  • Neoplasms / etiology
  • Neurodegenerative Diseases / etiology


  • Hepcidins
  • Ferritins
  • Iron