What is the recommended management for patients with hereditary hemochromatosis according to the Royal Australian College of General Practitioners (RACGP)?

From the Guidelines

The Royal Australian College of General Practitioners (RACGP) recommends therapeutic phlebotomy as the primary management for patients with hereditary hemochromatosis, with the goal of reducing iron overload and preventing organ damage. According to the most recent guidelines 1, patients should undergo weekly phlebotomy of 500mL of blood until their serum ferritin levels reach 50-100 μg/L. This induction phase typically takes 6-12 months depending on the initial iron overload. Once target ferritin levels are achieved, maintenance therapy involves less frequent phlebotomies, typically 3-4 times per year, to maintain ferritin below 50-100 μg/L.

Some key points to consider in the management of hereditary hemochromatosis include:

• Regular monitoring of hemoglobin, ferritin, and transferrin saturation levels to guide treatment frequency 1
• Screening for complications such as liver disease, diabetes, cardiac abnormalities, and arthropathy 1
• Dietary modifications, including limiting alcohol consumption, avoiding vitamin C supplements with meals, and limiting consumption of red meat 1
• Avoiding iron supplements and raw shellfish due to the risk of Vibrio infection in those with liver disease 1
• Family screening, with first-degree relatives requiring genetic testing for the HFE gene mutations 1

It's also important to note that erythrocytapheresis is an alternative to therapeutic phlebotomy and has been shown to be cost-effective in the induction phase 1. Additionally, iron chelation therapy can be considered if phlebotomy is not possible, but the risk-benefit ratio should be carefully evaluated 1.

Overall, the management of hereditary hemochromatosis should prioritize reducing iron overload and preventing organ damage, with regular monitoring and screening for complications, and consideration of alternative treatments when necessary.

From the Research

Recommended Management for Hereditary Hemochromatosis

According to the Royal Australian College of General Practitioners (RACGP), the recommended management for patients with hereditary hemochromatosis includes:

• Therapeutic phlebotomy to remove excess iron and maintain low normal body iron stores 2
• Initiation of therapeutic phlebotomy in men with serum ferritin levels of 300 microg/L or more and in women with serum ferritin levels of 200 microg/L or more, regardless of the presence or absence of symptoms 2
• Dietary management, including avoidance of medicinal iron, mineral supplements, excess vitamin C, and uncooked seafoods to reduce the rate of iron reaccumulation and complications of liver disease, diabetes mellitus, and Vibrio infection 2
• Genetic testing for the HFE mutation in patients with elevated iron indices and a suspicion for hemochromatosis or liver disease 3
• Treatment of patients with the clinical phenotype of hereditary hemochromatosis through phlebotomy for removal of excess iron stores 3
• Periodic phlebotomies until iron is depleted for non-HFE forms of hemochromatosis 4
• Use of erythrocytapheresis as a more individualized treatment option, which can provide a good balance between effectiveness, tolerability, and costs 5

Treatment Options

The treatment options for hereditary hemochromatosis include:

• Phlebotomy: the standard treatment for many decades 5
• Erythrocytapheresis: a more individualized treatment option that can provide a good balance between effectiveness, tolerability, and costs 5
• Oral chelators: used in selected patients to further individualize treatment 5
• Proton pump inhibitors: used in selected patients to further individualize treatment 5
• Hepcidin-targeted therapy: a potential future treatment option that could provide a more fundamental approach to treatment 5