Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications

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