Treatment of Hemochromatosis

Introduction to Hemochromatosis Treatment

Therapeutic phlebotomy is the first-line treatment for hemochromatosis with evidence of iron overload, and should be initiated in all patients to prevent complications and improve survival, as recommended by the American Association for the Study of Liver Diseases 1, 2

Hemochromatosis presents with various symptoms related to iron accumulation in organs, including fatigue and malaise, skin pigmentation, abdominal pain, arthropathy, diabetes mellitus, liver disease, cardiac abnormalities, and hypogonadism, which may improve with treatment 3, 4

The American Association for the Study of Liver Diseases recommends phlebotomy as the mainstay of treatment for hemochromatosis, consisting of two phases: induction and maintenance, with the goal of removing excess iron and preventing organ damage 1, 5, 6
During the induction phase, one unit of blood (450-500 mL) should be removed weekly or biweekly as tolerated, with monitoring of hemoglobin/hematocrit before each phlebotomy, and avoidance of reducing hemoglobin/hematocrit by more than 20% of starting value 1, 6
The maintenance phase involves continuing periodic phlebotomy to maintain serum ferritin between 50-100 μg/L, with frequency varying among individuals based on iron reaccumulation rate 1, 6

Iron chelation therapy is a second-line option when phlebotomy is not possible, with deferasirox (DFX) being the most studied, but not approved for hemochromatosis by the European Medicines Agency, and should not be used in patients with advanced liver disease 2, 5

Patients with hemochromatosis should avoid iron supplements and iron-fortified foods, as well as supplemental vitamin C, especially before iron depletion, and limit red meat consumption, restrict alcohol intake, and avoid raw or undercooked shellfish due to risk of Vibrio vulnificus infection, as recommended by the American Association for the Study of Liver Diseases 1, 5, 6

Early diagnosis and treatment significantly improve survival when initiated before development of cirrhosis and diabetes, with patients with cirrhosis requiring regular screening for hepatocellular carcinoma (HCC), which accounts for approximately 30% of hemochromatosis-related deaths 2, 3, 5
The American Association for the Study of Liver Diseases recommends that patients with cirrhosis undergo regular screening for HCC, and that treatment should be initiated before organ damage occurs for best outcomes 2, 3, 5