What is the treatment for hereditary hemochromatosis?

Treatment of Hereditary Hemochromatosis

The primary treatment for hereditary hemochromatosis is therapeutic phlebotomy, with an initial induction phase targeting ferritin levels <50 μg/L followed by maintenance therapy to keep ferritin <100 μg/L. 1, 2

Diagnosis and Assessment

Before initiating treatment, proper diagnosis and staging are essential:

• Diagnostic criteria:

  • Elevated transferrin saturation (>45% in females, >50% in males)
  • Elevated ferritin (>200 μg/L in females, >300 μg/L in males)
  • Genetic testing showing C282Y homozygosity or C282Y/H63D compound heterozygosity 1

• Pre-treatment assessment:

  • Evaluate liver fibrosis status (crucial for management decisions)
  • Screen for end-organ damage (liver, heart, pancreas, joints)
  • Assess for hepatocellular carcinoma in patients with cirrhosis 1

Treatment Protocol

Induction Phase

• Weekly phlebotomy (removal of 400-500 mL of blood)
• Target: Ferritin <50 μg/L 1, 2
• Monitoring: Check hemoglobin at each session to avoid anemia
• Duration: Variable (typically 6-12 months depending on iron burden)

Maintenance Phase

• Frequency: Every 2-4 months based on ferritin levels
• Target: Maintain ferritin <100 μg/L 1, 2
• Monitoring: Check ferritin every 3-4 months

Special Considerations

Alternative Treatment Options

• Erythroapheresis: Removes excess iron twice as fast as manual phlebotomy and may be considered for patients requiring rapid iron depletion 3

Monitoring for Complications

• Hepatocellular carcinoma screening: Required for patients with cirrhosis 1, 2
• Cardiac evaluation: For patients with significant iron overload 2

Dietary Recommendations

• Avoid iron supplements and vitamin C supplements during treatment
• Limit alcohol consumption
• Limit consumption of iron-fortified foods 2

Treatment Outcomes

Early diagnosis and treatment are crucial for preventing complications. When treatment is initiated before the development of cirrhosis or diabetes, survival rates are comparable to the general population 1. However, patients diagnosed after developing cirrhosis remain at increased risk for hepatocellular carcinoma despite adequate iron depletion 1.

Family Screening

First-degree relatives of patients with hereditary hemochromatosis should be offered genetic testing after 18 years of age 4. This is particularly important for siblings who have a 33% chance of being homozygous for the C282Y mutation 1.

Pitfalls and Caveats

1. Overtreatment: Excessive phlebotomy can lead to iron avidity, which may mimic undertreatment with persistently elevated transferrin saturation 5

2. Incomplete response: Some patients may have persistent symptoms despite normalization of iron indices

3. Liver transplantation: May be necessary for patients with decompensated cirrhosis, though post-transplant survival rates are lower in hemochromatosis patients compared to those transplanted for other conditions 1

4. Pregnancy considerations: During pregnancy, target ferritin levels should remain ≥50 μg/L 2

Early diagnosis and treatment of hereditary hemochromatosis can prevent organ damage and normalize life expectancy, making timely intervention crucial for optimal patient outcomes.