Ellen L1*, Wim V1,2, Ivo D2, Tom H2 and Jeoffrey S2
1Department of Medicine and Health Sciences, University of Antwerp, Belgium 2Department of Hepato-Gastroenterology, VITAZ, BelgiumFulltext PDF
Hyperferritinemia is a common reason for referral to a hepatogastroenterologist. The most frequent causes are not associated with iron overload (e.g. inflammatory diseases, alcohol abuse, metabolic syndrome, etc.). However, hyperferritinemia can also be caused by a genetic mutation in one of the iron regulatory genes, called hereditary hemochromatosis, often but not always associated with iron overload. A mutation in the human Hemostatic Iron Regulator protein (HFE) gene is the most common genotype, but many other mutations have been described. In this paper we discuss two cases of rare hyperferritinemia associated disorders, ferroportin disease and hyperferritinemia-cataract syndrome. We also propose an algorithm for evaluating hyperferritinemia, facilitating a correct diagnosis and preventing potentially unnecessary examinations and therapeutic actions.
Hyperferritinemia; Hereditary hemochromatosis; Ferroportin disease; Hereditary hyperferritinemia-cataract syndrome
Ellen L, Wim V, Ivo D, Tom H, Jeoffrey S. Hyperferritinemia; More than the Metabolic Syndrome, Inflammation and Hereditary Hemochromatosis. Ann Clin Case Rep. 2022; 7: 2193..