What is the initial treatment for patients diagnosed with hemochromatosis?

Initial Treatment for Hemochromatosis

The first-line treatment for patients diagnosed with hemochromatosis with evidence of iron overload is therapeutic phlebotomy, which should be performed weekly (or fortnightly) during the induction phase until iron stores are depleted to a serum ferritin level of 50 μg/L. 1

Treatment Protocol

Induction Phase

• Frequency: Weekly or biweekly phlebotomy
• Volume: 450-500 mL of blood (one unit) per session
• Target: Serum ferritin of 50 μg/L (but not lower to avoid iron deficiency)
• Monitoring:
  • Check hemoglobin/hematocrit before each phlebotomy
  • Do not reduce hemoglobin to <80% of starting value
  • Check serum ferritin after every 10-12 phlebotomies (approximately every 3 months)
  • More frequent monitoring as target ferritin approaches

Maintenance Phase

• Goal: Maintain serum ferritin in the range of 50-100 μg/L
• Frequency: Individualized based on rate of iron reaccumulation
• Monitoring: Regular ferritin measurements to adjust phlebotomy schedule

Alternative Treatment Options

1. Erythrocytapheresis:

   • Alternative to therapeutic phlebotomy
   • Cost-effective in the induction phase
   • Requires fewer procedures (removes more iron per session)
   • May be preferred in selected cases where available 1

2. Iron Chelation Therapy:

   • Second-line option when phlebotomy is not possible
   • Requires careful risk-benefit assessment
   • Oral deferasirox (DFX) is most studied but has limited evidence
   • Not approved for hemochromatosis by European Medicines Agency
   • Should not be used in patients with advanced liver disease 1

Clinical Response to Treatment

Treatment provides significant benefits for:

• Malaise and fatigue
• Skin pigmentation
• Insulin requirements in diabetics
• Abdominal pain
• Liver function tests (normalization)
• Liver fibrosis (may show regression in approximately 30% of cases) 1

Features less responsive or unresponsive to treatment:

• Arthropathy
• Hypogonadism
• Advanced cirrhosis 1

Important Considerations

Monitoring for Complications

• Patients with cirrhosis should continue surveillance for hepatocellular carcinoma (HCC) even after iron depletion
• HCC surveillance should be performed using abdominal ultrasound every 6 months 1

Dietary Recommendations

• Dietary modifications should not substitute for iron removal therapy
• Avoid iron supplementation and iron-fortified foods
• Avoid supplemental vitamin C, especially before iron depletion
• Limit red meat consumption
• Restrict alcohol intake, especially during iron depletion phase
• Patients with cirrhosis should abstain from alcohol completely 1

Potential Pitfalls

1. Iron deficiency: Avoid reducing ferritin below 50 μg/L, which can lead to symptomatic iron deficiency 2
2. Poor compliance: Compliance with maintenance therapy decreases by approximately 6.8% annually 3
3. Inadequate monitoring: Failure to regularly check ferritin and hemoglobin can lead to complications

Early diagnosis and treatment significantly improve survival and prevent complications such as liver cirrhosis, hepatocellular carcinoma, diabetes mellitus, and cardiomyopathy. Treatment is most effective when initiated before the development of cirrhosis and/or diabetes 1.