From the Guidelines
The primary treatment for hemochromatosis is therapeutic phlebotomy, which involves regular blood removal to reduce iron levels in the body, with a target ferritin level of less than 50 µg/L during the induction phase and less than 100 µg/L during the maintenance phase. Hemochromatosis is a genetic disorder characterized by excessive iron accumulation in the body, leading to organ damage and various health complications. The goal of treatment is to reduce iron levels and prevent further damage.
Treatment Options
- Therapeutic phlebotomy: This is the primary treatment for hemochromatosis, involving regular blood removal to reduce iron levels in the body 1.
- Iron chelation therapy: For patients who cannot tolerate phlebotomy, iron chelation therapy with medications like deferasirox (Exjade, Jadenu) or deferoxamine (Desferal) may be used, as seen in the 2011 practice guideline by the American Association for the Study of Liver Diseases 1.
Dietary Recommendations
- Avoid iron supplements and vitamin C supplements with meals, as they can enhance iron absorption 1.
- Limit or avoid alcohol consumption, as it can increase iron absorption and cause additional liver damage.
Monitoring and Maintenance
- Regular monitoring of serum ferritin and transferrin saturation is essential to assess treatment effectiveness 1.
- Maintenance phlebotomies are typically needed every 2-4 months for life to keep serum ferritin between 50 and 100 lg/L 1.
From the Research
What is Hemochromatosis
- Hemochromatosis is a genetic disorder characterized by systemic iron overload, caused by a reduction in the concentration of the iron regulatory hormone hepcidin, or a reduction in hepcidin-ferroportin binding 2.
- It is defined as systemic iron overload of genetic origin, leading to the accumulation of iron in parenchymal cells, particularly hepatocytes, pancreatic cells, and cardiomyocytes 2.
Typical Treatment Options
- The mainstay therapy for hemochromatosis is phlebotomy, which involves the removal of blood from the body to reduce iron stores 2, 3.
- Iron chelation therapy can be used in some patients, particularly those who are unable to undergo phlebotomy 4, 5.
- Chelating drugs such as deferoxamine, deferiprone, and deferasirox can help lower tissue iron levels and prevent iron overload complications 4, 6.
- Hepcidin supplementation may be an innovative future approach for the treatment of hemochromatosis 2.
Treatment Goals and Monitoring
- The primary goal of therapy is iron depletion to normalize body iron stores and prevent or decrease organ dysfunction 3.
- Treatment is monitored through clinical examination, assessment of plasma iron parameters, imaging, and genetic testing 2.
- Maintenance therapy and dietary and pharmacologic maneuvers can help reduce iron absorption and maintain iron stores at a safe level 3.