What is the treatment for hemochromatosis?

Treatment of Hemochromatosis

Therapeutic phlebotomy is the first-line treatment for hemochromatosis with evidence of iron overload and should be initiated in all patients to prevent complications and improve survival. 1

Phlebotomy Protocol

Induction Phase

• Remove one unit of blood (450-500 mL) weekly or biweekly as tolerated until serum ferritin reaches 50-100 μg/L 1, 2
• Monitor hemoglobin/hematocrit before each phlebotomy to avoid reducing levels by more than 20% of starting value 1
• Check serum ferritin every 10-12 phlebotomies (approximately every 3 months) initially, then more frequently as levels approach the target range 3, 2

Maintenance Phase

• Continue periodic phlebotomy to maintain serum ferritin between 50-100 μg/L 1, 2
• Frequency varies among individuals based on iron reaccumulation rate, typically every 3-6 months 2
• Not all patients reaccumulate iron at the same rate; some may not require maintenance phlebotomy 3

Clinical Response to Treatment

• Early treatment before development of cirrhosis and diabetes significantly improves survival 3, 1
• Symptoms that typically improve with phlebotomy:
  • Malaise and fatigue 3
  • Skin pigmentation 3
  • Insulin requirements for diabetics 3
  • Abdominal pain 3
  • Elevated liver enzymes 3
• Symptoms with limited or no response:
  • Arthropathy (minimal improvement) 3
  • Hypogonadism 3
  • Advanced cirrhosis (no reversal) 3

Alternative Treatment Options

• Iron chelation therapy with deferasirox is a second-line option when phlebotomy is not possible 1
• Important considerations for deferasirox:
  • Not FDA-approved specifically for hemochromatosis 4
  • Carries risks of renal failure, hepatic failure, and gastrointestinal hemorrhage 4
  • Contraindicated in patients with eGFR less than 40 mL/minute/1.73 m² 4
  • Should not be used in patients with advanced liver disease 1

Dietary and Lifestyle Recommendations

• Avoid iron supplements and iron-fortified foods 1, 2
• Limit supplemental vitamin C, especially before iron depletion 1, 2
• Restrict alcohol intake to prevent additional liver damage 2
• Avoid raw or undercooked shellfish due to risk of Vibrio vulnificus infection, particularly in patients with cirrhosis 1, 5

Monitoring and Long-term Management

• Patients with cirrhosis should undergo regular screening for hepatocellular carcinoma (HCC) 3
• HCC accounts for approximately 30% of hemochromatosis-related deaths 3, 1
• Monitor for iron deficiency during maintenance therapy, which can occur with excessive phlebotomy 6
• Patient compliance with maintenance therapy tends to decrease over time (approximately 6.8% annually), requiring regular follow-up 7

Common Pitfalls and Caveats

• Avoid inducing iron deficiency through excessive phlebotomy; maintain ferritin between 50-100 μg/L rather than depleting completely 2, 6
• Recognize that hepatic fibrosis may be reversible in approximately 30% of cases with adequate iron removal 3
• Early treatment is critical - once cirrhosis develops, the risk of HCC persists even with adequate iron depletion 3, 1
• Secondary iron overload conditions may require different treatment approaches than hereditary hemochromatosis 3