What is the initial management for hemochromatosis?

Initial Management of Hemochromatosis

The initial management for hemochromatosis is therapeutic phlebotomy, which should be performed weekly or biweekly with removal of one unit of blood (approximately 500 mL) until serum ferritin reaches 50-100 μg/L. 1, 2

Phlebotomy Protocol

• Weekly or biweekly phlebotomy (removal of 500 mL blood) is the cornerstone of initial treatment for patients with hemochromatosis and iron overload 1
• Check hemoglobin or hematocrit before each phlebotomy session to ensure it doesn't fall below 80% of the starting value, preventing anemia 1, 2
• Monitor serum ferritin levels every 10-12 phlebotomies (approximately every 3 months) during the initial iron depletion phase 1
• Continue frequent phlebotomy until serum ferritin reaches the target range of 50-100 μg/L 1, 2
• The initial depletion phase may take up to 2-3 years for patients with significant iron overload (>30g of total body iron) 1, 2

Indications for Phlebotomy

• Phlebotomy is indicated in all patients with confirmed hemochromatosis (particularly C282Y homozygotes) with evidence of iron overload 1, 3
• Even asymptomatic C282Y homozygotes with elevated ferritin (but <1000 μg/L) should proceed to phlebotomy without liver biopsy 1, 3
• Patients with end-organ damage due to iron overload should undergo regular phlebotomy to the same target ferritin levels 1, 3
• Non-HFE iron overload patients with elevated hepatic iron concentration should also receive phlebotomy treatment 1, 3

Maintenance Phase

• After reaching target ferritin levels (50-100 μg/L), transition to maintenance phlebotomy at individualized intervals 1, 2
• The frequency of maintenance phlebotomy varies significantly among individuals due to variable rates of iron reaccumulation 1, 2
• Some patients require monthly maintenance phlebotomy, while others may need only 1-2 units removed per year 1, 2
• Monitor serum ferritin every 6 months during maintenance to adjust treatment schedule accordingly 2

Important Precautions

• Avoid vitamin C supplements in iron-loaded patients, particularly during phlebotomy treatment, as they can accelerate iron mobilization to potentially dangerous levels 1
• No dietary adjustments are necessary as the amount of iron absorption affected by a low-iron diet is small (2-4 mg/day) compared to phlebotomy (250 mg/week) 1
• Avoid raw shellfish due to risk of Vibrio vulnificus infection in patients with hemochromatosis 1
• Exercise caution in patients with cardiac arrhythmias or cardiomyopathy due to increased risk of sudden death with rapid iron mobilization 1, 2
• Be vigilant to prevent iron deficiency, which can occur with excessive phlebotomy and cause symptoms including fatigue and anemia 4, 5

Special Considerations

• In patients with advanced liver disease, decompensated cirrhosis is not reversed with iron removal and may require consideration for liver transplantation 1
• For patients unable to tolerate phlebotomy, iron chelation therapy with medications like deferasirox may be considered, though these carry their own risks including kidney problems, liver problems, and gastrointestinal bleeding 6
• Therapeutic erythrocytapheresis may be an alternative to phlebotomy in selected cases, potentially offering more efficient iron removal with fewer procedures 7

Monitoring Parameters

• Hemoglobin/hematocrit before each phlebotomy session 1, 2
• Serum ferritin every 10-12 phlebotomies during initial phase, then every 6 months during maintenance 1, 2
• Liver function tests in patients with liver involvement 1, 3
• Blood glucose in patients with diabetes 6