Successful splenectomy for congenital erythropoietic porphyria (Gunther's disease)

Congenital erythropoetic porphyria (CEP), also known as Gunther disease is a rare autosomal recessive disorder of porphyrin metabolism caused by deficiency of uroporphyrinogen III synthetase (or cosynthetase). To date no curative therapy is known. The only preventive measure is the absolute avoidance of exposure to sunlight. Other treatments include oral beta-carotene, erythrocyte transfusions, splenectomy, oral administration of adsorbents such as charcoal and cholestyramine, and hydroxyurea administration. None of the above treatments is wholly satisfactory, especially in severely affected patients. We report a 5-year-old child with CEP who presented with a history of pinkish red urine and blistering cutaneous lesions since birth. His clinical course was complicated by severe hemolytic anemia and thrombocytopenia requiring multiple transfusions. He underwent splenectomy with dramatic improvement in his hematological and clinical status. There was significant improvement in the status of his skin disorder 2 years after splenectomy. No transfusion has been necessary since and the hemoglobin level and platelet count has remained normal. Although long-term efficacy remains to be confirmed, we conclude that splenectomy may benefit patients with CEP.