Revisiting hereditary hemochromatosis: current concepts and progress.
Originally regarded as a rare affliction notable for its distinctive evolution to "bronze diabetes," hereditary hemochromatosis is now recognized as the most common genetic disorder in populations of European ancestry. Recent advances in our understanding of iron metabolism, the identification of the gene responsible for hemochromatosis, and large epidemiologic studies have changed the diagnostic approach toward patients with hereditary hemochromatosis and other forms of iron overload. This article reviews the pathophysiology, epidemiology, clinical features, diagnostic testing, and management of hemochromatosis for the primary care provider.
Yen
Andrew W
AW
University of California, Davis Medical Center, Department of Internal Medicine, Sacramento, Calif 95817, USA. andrew.yen@ucdmc.ucdavis.edu
Fancher
Tonya L
TL
Bowlus
Christopher L
CL
D003937:Diagnosis, Differential; D016021:Epidemiologic Studies; D006432:Hemochromatosis / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology* / Q000628:therapy; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D015994:Incidence; D019190:Iron Overload / Q000150:complications / Q000503:physiopathology; D008403:Mass Screening; D008565:Membrane Proteins / Q000235:genetics*; D011379:Prognosis
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins