What is the recommended treatment for haemosiderosis?

Treatment of Haemosiderosis

Phlebotomy is the first-line treatment for haemosiderosis, with a target ferritin <50 μg/L during induction and <100 μg/L during maintenance; when phlebotomy is not feasible, iron chelation therapy with deferasirox (10 mg/kg/day) can be considered as second-line treatment, though it should be avoided in advanced liver disease. 1

Primary Treatment Approach

Phlebotomy (First-Line)

• Standard phlebotomy is the most effective treatment for removing excess iron in haemosiderosis 1
• Target ferritin levels:
  • Induction phase: <50 μg/L
  • Maintenance phase: <100 μg/L 2
• Erythrocytapheresis can be used as an alternative when available, offering:
  • Fewer hemodynamic changes
  • Reduced number of procedures needed
  • Return of valuable blood components 1

When Phlebotomy Cannot Be Used

Chelation therapy becomes necessary in specific situations 1:

• Inaccessible veins
• Severe needle phobia
• Concomitant anaemia (though this should prompt investigation for other causes, as anaemia is NOT characteristic of haemochromatosis)
• Life-threatening cardiac iron overload (particularly in juvenile haemochromatosis)
• Hemodynamic instability

Second-Line Treatment: Iron Chelation

Deferasirox (DFX) - Most Studied Option

• Starting dose: 10 mg/kg/day orally (dispersible tablets) 1
• Reduces median serum ferritin by 75% over 48 weeks 1
• Critical contraindication: Do NOT use in advanced liver disease 1
• Important caveats:
  • Not approved by European Medicines Agency for haemochromatosis 1
  • Can cause gastrointestinal side effects
  • May impair kidney function
  • Should only be prescribed by clinicians with expertise 1

Alternative Chelators (Limited Evidence)

Deferoxamine (DFO) - Parenteral:

• Can be combined with mini-phlebotomies via subcutaneous infusion 1
• Very limited experience (safe in only 3 reported patients) 1
• Consider for patients with low baseline hemoglobin or cardiac impairment 1

Deferiprone (DFP) - Oral:

• Use with extreme caution - significant haematological toxicity risk 1
• In a cohort of 3 haemochromatosis patients with cardiac iron overload, all developed toxicity:
  • 2 cases of agranulocytosis (1 fatal)
  • 1 case of neutropenia 1

Special Considerations

Juvenile Haemochromatosis

• Phlebotomy remains treatment of choice when possible 1
• For life-threatening cardiac iron overload:
  • Combination chelation with oral DFP + intravenous DFO has been described 1
  • Combined or sequential therapies may be needed based on severity 1

Important Contraindications

• All iron chelation drugs are contraindicated in pregnancy 1
• Dose adjustment required in renal failure 1
• Patients requiring chelation should be referred to specialized centers 1

Common Pitfalls to Avoid

1. Do not assume anaemia is part of haemosiderosis - it actually causes increased hemoglobin, haematocrit, and red cell indices due to iron availability for erythropoiesis. Finding anaemia should trigger investigation for other causes 1

2. Do not start with 15 mg/kg deferasirox - this dose caused significant side effects in trials; 10 mg/kg is the recommended starting dose 1

3. Do not use deferiprone without extreme caution - the risk of fatal agranulocytosis is real 1

4. Do not use deferasirox in cirrhotic patients - it is contraindicated in advanced liver disease 1

Note on Pulmonary Haemosiderosis

If the question pertains to idiopathic pulmonary haemosiderosis (a different entity), corticosteroids are first-line, with liposomal dexamethasone showing promise in pediatric cases 3, 4. However, for systemic haemosiderosis/haemochromatosis, the above phlebotomy-first approach applies.