Treatment of Hemochromatosis: Therapeutic Phlebotomy is First-Line Therapy
Therapeutic phlebotomy is the first-line and most effective treatment for this patient with hemochromatosis, as evidenced by her elevated serum iron, ferritin, and transferrin saturation. 1, 2
Diagnosis and Clinical Presentation
The patient presents with classic features of hemochromatosis:
- 42-year-old female with diabetes
- "Bronze" skin pigmentation
- Hepatomegaly
- Laboratory evidence of iron overload:
- Elevated serum iron (170 μg/dL)
- Normal transferrin (210 mg/dL)
- Elevated ferritin (300 μg/L)
- Significantly elevated transferrin saturation (80%)
These findings are consistent with hereditary hemochromatosis, characterized by excessive iron absorption and deposition in tissues.
Treatment Plan: Therapeutic Phlebotomy
Induction Phase
- Weekly phlebotomy (removal of 450-500 mL of blood) 1
- Monitor hemoglobin before each procedure
- Check ferritin level after every 4 phlebotomies initially, then more frequently when ferritin falls below 200 μg/L 2
- Continue until serum ferritin reaches 50 μg/L (target for induction phase) 1, 2
Maintenance Phase
- Transition to less frequent phlebotomy (every 1-4 months based on individual iron reaccumulation rate)
- Maintain serum ferritin between 50-100 μg/L 1, 2
- Monitor ferritin every 6 months to adjust treatment schedule 2
Rationale for Therapeutic Phlebotomy
- Established efficacy: Phlebotomy has been shown to improve survival and prevent complications when initiated before the development of cirrhosis and/or diabetes 1
- Safety profile: Generally safe and well-tolerated 1
- Cost-effectiveness: Inexpensive compared to alternatives 1
- Potential societal benefit: Blood obtained may be used for donation in some institutions 1
Alternative Treatment Options
Erythrocytapheresis
- Alternative to therapeutic phlebotomy that selectively removes red blood cells
- More efficient in the induction phase (fewer procedures required) 1, 3
- Higher cost of materials (approximately three-fold) 4
- Consider if available and in selected cases 1
Iron Chelation Therapy
- Second-line option only when phlebotomy is not possible 1
- Deferasirox (DFX) has the most evidence in hemochromatosis 1
- Not approved for hemochromatosis by European Medicines Agency
- Associated with gastrointestinal side effects and potential kidney function impairment 1
- Should not be used in patients with advanced liver disease 1
Additional Management Considerations
Dietary Recommendations
- Avoid iron supplementation and iron-fortified foods 1, 2
- Avoid supplemental vitamin C, especially before iron depletion 1
- Limit red meat consumption 1, 2
- Restrict alcohol intake, especially during iron depletion phase 1
- Patients with cirrhosis should abstain from alcohol completely 1
- Avoid raw or undercooked shellfish (risk of Vibrio vulnificus infection) 1, 2
Monitoring for Complications
- Regular assessment of liver function
- Diabetes management (already present in this patient)
- Cardiac evaluation if symptoms present
Why Other Options Are Not Appropriate
- Iron supplementation (option B): Contraindicated as the patient has iron overload, not deficiency 1, 2
- Transfusion (option C): Would worsen iron overload by adding additional iron 1
- Chelation therapy (option D): Reserved as second-line therapy when phlebotomy is not possible 1
Therapeutic phlebotomy remains the cornerstone of treatment for hemochromatosis, with proven efficacy in reducing morbidity and mortality when initiated before irreversible organ damage occurs.