What is the initial treatment for Hemochromatosis (Iron Overload Disease)?

Initial Treatment for Hemochromatosis (Iron Overload Disease)

The initial treatment for hemochromatosis with evidence of iron overload is regular therapeutic phlebotomy until iron stores are depleted, with a target serum ferritin level of 50-100 μg/L. 1

Phlebotomy Protocol

• Initial Phase:

  • Weekly phlebotomy of 450-500 mL of blood (removes approximately 200-250 mg of iron)
  • Continue until target ferritin level of 50-100 μg/L is achieved 1
  • Monitor hemoglobin/hematocrit before each phlebotomy to avoid reducing to <80% of starting value 1

• Monitoring During Initial Phase:

  • Check ferritin levels monthly 1
  • Monitor liver enzymes every 3 months 1
  • Check complete blood count before each phlebotomy session 1
  • Monitor transferrin saturation monthly 1

• Maintenance Phase:

  • Continue phlebotomy for life, typically every 1-4 months based on individual iron reaccumulation rate 2, 1
  • Check ferritin levels every 6 months 1
  • Adjust frequency based on ferritin trends to maintain levels between 50-100 μg/L 1

Important Considerations

• Avoid Overtreatment:

  • Ferritin levels below 50 μg/L can increase dietary iron absorption and cause symptomatic iron deficiency 1, 3
  • Symptoms of excessive phlebotomy include fatigue, weakness, and microcytic anemia 3

• Avoid Undertreatment:

  • Inadequate iron removal can lead to continued organ damage 1
  • Patients with cirrhosis should undergo regular screening for hepatocellular carcinoma (HCC) 2

• Dietary and Lifestyle Recommendations:

  • Avoid iron supplements and iron-fortified foods 1
  • Limit red meat consumption 1
  • Avoid vitamin C supplements, especially before meals 2, 1
  • Restrict alcohol intake; complete abstinence recommended for those with cirrhosis 1
  • Avoid raw or undercooked shellfish (risk of Vibrio vulnificus infection) 1

Alternative Treatments

• Erythrocytapheresis:

  • Can remove up to 1000 mL of erythrocytes per session (vs. 250 mL with standard phlebotomy) 4, 5
  • May reduce treatment duration by up to 70% compared to standard phlebotomy 4
  • Consider for patients who need rapid iron depletion or have poor venous access 5

• Iron Chelation Therapy:

  • For patients with contraindications to phlebotomy (anemia, hemodynamic instability) 1
  • Deferasirox is an option, but requires careful monitoring due to potential renal failure, hepatic failure, and gastrointestinal hemorrhage 6
  • Dosing must be adjusted based on renal function 6

Common Pitfalls to Avoid

• Misdiagnosis:

  • Elevated ferritin can be caused by inflammation, chronic alcohol consumption, cell necrosis, malignancies, or non-alcoholic fatty liver disease 1
  • Confirm diagnosis with genetic testing for HFE mutations (C282Y, H63D) 1

• Inadequate Monitoring:

  • Failure to regularly check ferritin levels can lead to over or under-treatment 1, 3
  • Not adjusting phlebotomy frequency based on individual response 1

• Treatment Complications:

  • Sustained iron deficiency due to excessive phlebotomy can cause significant symptoms 3
  • Brief iron supplementation may be needed if severe symptomatic iron deficiency develops, but should be used cautiously 3

Early diagnosis and consistent treatment with phlebotomy significantly improves prognosis and can prevent progression to cirrhosis, hepatocellular carcinoma, and other complications of iron overload 7.