Who manages hemochromatosis?

Management of Hemochromatosis

Hemochromatosis should be managed by hepatologists or gastroenterologists with expertise in liver diseases, with coordination of care involving other specialists based on organ involvement. 1

Primary Care Provider's Role

• Initial screening and identification of patients with suspected hemochromatosis
• Referral to appropriate specialists for diagnosis confirmation and management
• Coordination of care between specialists
• Monitoring of maintenance therapy after initial treatment

Specialist Management

Hepatologist/Gastroenterologist

• Primary specialist for management of hemochromatosis due to its significant liver involvement
• Responsible for:
  • Confirming diagnosis through genetic testing and iron studies
  • Initiating and monitoring therapeutic phlebotomy
  • Assessing liver damage and monitoring for complications
  • Determining need for liver biopsy in selected cases

Other Specialists Based on Organ Involvement

• Endocrinologist: For management of diabetes, thyroid disorders, and hypogonadism
• Cardiologist: For cardiac complications including cardiomyopathy and arrhythmias
• Rheumatologist: For joint disease and arthropathy
• Hematologist: May assist with complex cases or secondary forms of iron overload

Diagnostic and Treatment Algorithm

1. Initial Diagnosis:

   • Transferrin saturation (TS) ≥45% and/or elevated ferritin
   • HFE genetic testing to confirm C282Y homozygosity or compound heterozygosity

2. Treatment Initiation:

   • Therapeutic phlebotomy should be initiated in:
     • Men with serum ferritin levels ≥300 μg/L
     • Women with serum ferritin levels ≥200 μg/L
     • Regardless of symptoms 2

3. Phlebotomy Protocol:

   • Weekly removal of 450-500 mL of blood
   • Check hemoglobin/hematocrit before each phlebotomy
   • Monitor serum ferritin every 10-12 phlebotomies
   • Continue until ferritin reaches 50-100 μg/L 1

4. Maintenance Therapy:

   • Periodic phlebotomy to maintain ferritin between 50-100 μg/L
   • Frequency varies based on rate of iron reaccumulation (may range from monthly to 1-2 times per year)

Family Screening

• First-degree relatives of identified patients should undergo screening
• Both genotype (HFE mutation analysis) and phenotype (ferritin and TS) testing recommended
• For children of an identified proband, testing the other parent can determine if further testing is needed

Monitoring for Complications

• Liver disease: Regular liver function tests; monitoring for hepatocellular carcinoma in those with cirrhosis
• Diabetes: Regular glucose monitoring
• Cardiac complications: ECG and echocardiogram as indicated
• Joint disease: Symptomatic management

Special Considerations

• Patients with cirrhosis require continued screening for hepatocellular carcinoma even after iron depletion 1
• Avoid vitamin C supplements in iron-loaded patients, particularly during phlebotomy 1
• Avoid raw shellfish due to risk of Vibrio vulnificus infection 1
• Liver transplantation may be considered for decompensated liver disease 1

Pitfalls to Avoid

• Delayed diagnosis: Early identification and treatment before organ damage occurs significantly improves outcomes
• Inadequate iron depletion: Failure to reduce ferritin to target levels (50-100 μg/L)
• Overtreatment: Causing iron deficiency should be avoided
• Missing family screening: First-degree relatives must be evaluated
• Failure to recognize non-HFE hemochromatosis: Rarer forms may require different management approaches 3
• Overlooking confounding factors: Alcohol use can exacerbate iron overload and liver damage 4

The management of hemochromatosis requires a coordinated approach with hepatologists/gastroenterologists taking the lead role while involving other specialists as needed based on specific organ involvement. Early diagnosis and treatment with therapeutic phlebotomy is essential to prevent complications and improve quality of life and longevity.