Hereditary Hemochromatosis
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.
Hereditary hemochromatosis is thought to be the most common inherited disorder in whites, and perhaps the most common classically inherited disease in America. This disorder is most commonly found in persons of northern European descent, whereas it rarely occurs in Africans or Asians. The occurrence of the disease in Hispanics can be similar to that in whites. It is estimated that approximately 1 in 200 whites in the United States are homozygous for the gene thought to be responsible for the disease, although the frequency has been reported to be as high as 1 in 150 in some populations. Approximately 25% of the men and 50% of the women with hereditary hemochromatosis will develop life-threatening consequences of the disease in their lifetime. Studies suggest that the disease has been underdiagnosed, with considerable resultant reduction in both quality and quantity of life.
Abstract
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.
Introduction
Hereditary hemochromatosis is thought to be the most common inherited disorder in whites, and perhaps the most common classically inherited disease in America. This disorder is most commonly found in persons of northern European descent, whereas it rarely occurs in Africans or Asians. The occurrence of the disease in Hispanics can be similar to that in whites. It is estimated that approximately 1 in 200 whites in the United States are homozygous for the gene thought to be responsible for the disease, although the frequency has been reported to be as high as 1 in 150 in some populations. Approximately 25% of the men and 50% of the women with hereditary hemochromatosis will develop life-threatening consequences of the disease in their lifetime. Studies suggest that the disease has been underdiagnosed, with considerable resultant reduction in both quality and quantity of life.