Objective: To review current knowledge of the genetics, presentation, diagnosis, and management of hereditary hemochromatosis.
Quality of evidence: MEDLINE was searched from January 1966 to June 2002, and references of relevant papers were reviewed. Most articles were reviews, practice guidelines, or observational studies. Several randomized controlled trials were identified but none studied primary therapy for hemochromatosis.
Main message: Hemochromatosis, the most common genetic disease in white populations, has a prevalence of one in 200, yet is still underrecognized. This disease of unregulated iron absorption leads to generalized iron overload that can eventually impair organ systems and lead to cirrhosis, diabetes, and cardiomyopathy. Symptoms are often nonspecific and patients are identified by mild abnormalities in routine laboratory testing. Transferrin saturation, ferritin levels, and genotyping can often establish the diagnosis. Iron depletion therapy with phlebotomy is helpful if initiated before organ damage occurs.
Conclusion: Family physicians should be aware that hemochromatosis can be treated effectively if diagnosed early.