Generalized pruritus in dysmetabolic hyperferritinemia treated by phlebotomy

Area of Science:

• Internal Medicine
• Dermatology
• Gastroenterology

Background:

• Dysmetabolic hyperferritinemia is characterized by elevated serum ferritin levels, hepatic iron overload, and metabolic syndrome.
• Pruritus is a common symptom that can significantly impact quality of life, often proving resistant to conventional therapies.

Observation:

• A 63-year-old male patient presented with generalized pruritus refractory to standard treatments.
• Investigations revealed significantly elevated serum ferritin (1043 ng/ml) and transferrin saturation (67%), with magnetic resonance imaging confirming hepatic iron overload.
• The patient had metabolic syndrome, and genetic testing for hemochromatosis was negative.

Findings:

• The diagnosis of dysmetabolic hyperferritinemia was established based on the combination of hyperferritinemia, hepatic iron overload, and metabolic syndrome.
• Phlebotomy, an unconventional treatment for this condition, was initiated due to persistent pruritus and high ferritin levels.
• After 19 months of phlebotomy, the patient experienced significant improvement in pruritus, and serum ferritin levels normalized.

Implications:

• Phlebotomy can be a viable therapeutic option for managing pruritus associated with dysmetabolic hyperferritinemia.
• This case highlights the importance of considering dysmetabolic hyperferritinemia in patients with unexplained hyperferritinemia and pruritus, particularly those with metabolic syndrome.
• Further research may explore the efficacy and optimal protocols for phlebotomy in treating this specific patient population.