From the Guidelines
The management of hemochromatosis primarily involves regular phlebotomy to reduce iron levels in the body, with a target serum ferritin level of 50-100 lg/L, as recommended by the most recent guidelines 1. The treatment of hemochromatosis is focused on reducing the accumulation of iron in the body, which can lead to organ damage and other complications.
- The initial phase of treatment involves weekly phlebotomy, removing approximately 500 mL of blood, until serum ferritin levels reach the target range.
- Once the target levels are achieved, maintenance phlebotomy is continued every 2-4 months for life, with the frequency adjusted based on regular monitoring of iron studies.
- For patients who cannot tolerate phlebotomy, iron chelation therapy with medications like deferasirox or deferoxamine may be used, although the evidence for their use in hemochromatosis is limited 1.
- Patients should also follow dietary modifications, including limiting iron-rich foods, vitamin C supplements, and alcohol, to reduce iron absorption and prevent further organ damage.
- Regular monitoring of liver function, blood glucose, and cardiac function is essential to detect any potential complications early on, as organ damage may continue despite treatment 1.
- Genetic counseling should be offered to family members, as hemochromatosis is an inherited condition, particularly in those with HFE gene mutations.
- The most recent guidelines from the European Association for the Study of the Liver (EASL) recommend a target serum ferritin level of 50-100 lg/L for patients with hemochromatosis, and suggest that phlebotomy should be performed weekly or every 2 weeks during the induction phase, and every 1-4 months during the maintenance phase 1.
From the Research
Hemochromatosis Overview
Hemochromatosis is a genetic disorder characterized by excessive iron absorption, leading to iron overload in the body. This condition can cause various health problems, including liver damage, heart disease, and joint pain.
Management and Treatment
The management and treatment of hemochromatosis involve reducing iron levels in the body. The main treatment options include:
- Therapeutic phlebotomy, which is the removal of blood from the body to reduce iron levels 2, 3, 4
- Iron chelation therapy, which uses medications to bind to iron and remove it from the body 5, 6
- Lifestyle changes, such as avoiding iron supplements and vitamin C, which can increase iron absorption
Treatment Options
Treatment options for hemochromatosis include:
- Deferasirox, an oral iron chelator that can reduce iron levels in the body 5
- Deferoxamine, an iron chelator that can be used in patients who cannot undergo phlebotomy 2, 6
- Orthotopic liver transplantation, which may be considered in patients with advanced cirrhosis 3
Importance of Early Detection
Early detection of hemochromatosis is crucial to prevent long-term damage to organs such as the liver, heart, and pancreas. Genetic testing can help identify individuals with the HFE gene mutation, which is associated with hereditary hemochromatosis 3, 4. Regular screening and monitoring can help detect iron overload and prevent complications.
Key Considerations
Key considerations in the management and treatment of hemochromatosis include:
- Regular monitoring of iron levels and liver function
- Avoiding iron supplements and vitamin C
- Considering genetic testing for first-degree relatives of patients with hereditary hemochromatosis 4
- Being aware of the increased risk of hepatocellular carcinoma and colorectal and breast cancers in individuals with hereditary hemochromatosis 4