RT Journal Article
SR Electronic
T1 Hereditary hemochromatosis.
JF The Journal of the American Board of Family Practice
JO J Am Board Fam Med
FD American Board of Family Medicine
SP 266
OP 273
VO 14
IS 4
A1 Hash, R B
YR 2001
UL http://www.jabfm.org/content/14/4/266.abstract
AB BACKGROUND The understanding of hereditary hemochromatosis, along with the availability of genetic testing, is changing the approach to diagnosis of the disease.METHODS A MEDLINE search was performed using multiple key words related to hemochromatosis and iron metabolism.RESULTS Most cases of hereditary hemochromatosis are caused by a single mutation to the HFE gene, resulting in unregulated dietary iron uptake. The signs and symptoms of hereditary hemochromatosis are nonspecific and common in family practice settings. Measuring the transferrin saturation level is a cost-effective way to screen for suspected disease. Subsequent workup includes serum ferritin levels, hepatic enzyme levels, and HFE gene testing, or liver biopsy. HFE gene testing can provide a definitive diagnosis in many patients. Liver biopsy is useful and indicated when liver disease is clinically evident.CONCLUSION For many patients, hereditary hemochromatosis can be diagnosed and treated in the physician's office. After iron mobilization with therapeutic phlebotomy, most patients will require phlebotomy 2 to 4 times each year throughout their lifetime. Treatment before organ toxicity occurs leads to a normal life span. Treatment after symptoms appear is less effective but can improve some signs and symptoms of iron toxicity.