The bronze-like diabetes recognized in the early 20th century is now a rare "tip of the iceberg" manifestation of HH. High clinical suspicion is a prerequisite in the detection of HH cases. This unique disease can now be likened to endocrine diseases such as diabetes, with hepcidin being the hepatologist's equivalent of insulin. Further knowledge and research into the pathophysiology of HH will enable us to explore and validate new diagnostic and therapeutic approaches that utilize hepcidin to a greater extent. Increased validation of new noninvasive technologies in the management of HH, such as fibrosis assessment tests, is required to guide the next phase in our knowledge and understanding of HH.
HH, hereditary hemochromatosis; HAMP, hepcidin; HIC, hepatic iron concentration; HJV, hemojuvelin; OLT, orthotopic liver transplantation; SNP, single nucleotide polymorphism; TFR2, transferrin receptor 2
Semin Liver Dis. 2011;31(3):293-301. © 2011 Thieme Medical Publishers