What is the management for a patient with elevated iron levels and hyperferritinemia?

Management of Elevated Iron Levels with Normal Ferritin

For a patient with elevated serum iron (162) and normal ferritin (30), therapeutic phlebotomy is not indicated as this pattern does not represent true iron overload but likely reflects a transient elevation in serum iron without tissue iron accumulation.

Understanding the Laboratory Values

The patient's laboratory values show:

• Elevated serum iron: 162 (reference ranges typically 60-170 μg/dL for men, 50-130 μg/dL for women)
• Normal ferritin: 30 ng/mL (reference ranges typically 20-250 ng/mL for men, 10-120 ng/mL for women)

These values require careful interpretation:

• Serum iron alone is not a reliable indicator of iron overload as it fluctuates throughout the day and can be affected by recent meals, medications, and diurnal variation
• Ferritin is the primary storage form of iron and a more reliable indicator of total body iron stores
• A normal ferritin level (30) strongly suggests absence of iron overload 1

Diagnostic Approach

1. Calculate transferrin saturation:

   • Transferrin saturation = (serum iron ÷ total iron binding capacity) × 100
   • This calculation is essential to properly interpret the elevated iron level
   • Values >45% may suggest hemochromatosis or other iron overload conditions 2

2. Rule out common causes of transiently elevated serum iron:

   • Recent iron supplementation or iron-containing multivitamins
   • Recent red meat consumption
   • Hemolysis (check LDH, haptoglobin, reticulocyte count)
   • Hepatocellular injury (check liver enzymes)

3. Consider other causes of discordant iron/ferritin values:

   • Early hemochromatosis (though typically presents with elevated ferritin)
   • Hereditary hyperferritinemia cataract syndrome (though presents with normal iron and high ferritin) 3
   • Ferroportin disease (though typically presents with elevated ferritin) 4

Management Recommendations

1. Immediate management:

   • No iron removal therapy is indicated with normal ferritin levels 1
   • Avoid iron supplements and iron-fortified foods until follow-up testing is complete
   • Limit alcohol consumption which can affect iron metabolism

2. Follow-up testing (within 1-3 months):

   • Repeat serum iron, ferritin, TIBC, and calculate transferrin saturation
   • Complete blood count
   • Liver function tests
   • Fasting morning sample for iron studies (to minimize diurnal variation)

3. If elevated iron persists with normal ferritin:

   • Consider genetic testing for rare iron metabolism disorders
   • Evaluate for conditions that might cause discordant iron values

Important Considerations

• Avoid misdiagnosis: Patients with transiently elevated serum iron but normal ferritin should not be diagnosed with or treated for hemochromatosis 2
• Avoid unnecessary phlebotomy: The American Association for the Study of Liver Diseases clearly states that phlebotomy is not indicated without evidence of iron overload, which is not present with normal ferritin levels 1
• Monitor for changes: Some iron overload conditions may initially present with normal ferritin that increases over time, warranting periodic monitoring 4

When to Consider Specialist Referral

• If transferrin saturation is persistently >45% despite normal ferritin
• If there is a strong family history of hemochromatosis
• If there are unexplained symptoms suggesting iron overload (fatigue, joint pain, liver dysfunction) despite normal ferritin

Remember that deferoxamine and other iron chelation therapies are specifically contraindicated for primary hemochromatosis and are not appropriate for patients without evidence of iron overload 5.