Wednesday, October 8, 2008 - 4:52AM EST

Treatment of Hereditary Hemochromatosis

Prognosis for Hereditary Hemochromatosis

As noted previously, early diagnosis and treatment by therapeutic phlebotomy are crucial for preventing damage to vital organs such as the liver, pancreas, heart, and pituitary gland in patients with hereditary hemochromatosis. With the removal of excess iron by repeated phlebotomy, patients will experience an improvement in symptoms such as fatigue, weakness, and lethargy, the liver will decrease in size, and liver function tests return to normal.

Research has shown that the presence or absence of liver cirrhosis is the single most important factor-affecting prognosis (predicting the course or outcome of the disease) for patients with hereditary hemochromatosis. In general, studies have demonstrated that if therapeutic phlebotomy is initiated before liver cirrhosis develops survival rates for patients with hereditary hemochromatosis are similar to age and sex-matched individuals of the general population. In the absence of liver cirrhosis, the prognosis for patients with hereditary hemochromatosis is quite good.

In contrast, research has shown that the 10-year survival rate of patients with hereditary hemochromatosis who develop cirrhosis of the liver is about 60% even with therapeutic and maintenance phlebotomy. The lower survival rate for cirrhotic patients has been attributed to the risk of developing hepatocellular carcinoma (primary liver cancer) that occurs in about 25% to 30% of patients with liver cirrhosis. For this reason, early diagnosis and treatment of patients who develop signs and symptoms of hereditary hemochromatosis is crucial to prevent liver cirrhosis and hepatocellular carcinoma as well as other potentially serious complications such as diabetes and heart problems (e.g., congestive heart failure, irregular heart beats).