Splenectomy as a cure to pancytopenia in congenital erythropoietic porphyria

Abstract

Congenital erythropoietic porphyria (CEP) is a rare genetic disorder caused by mutations in the uroporphyrinogen III synthase (UROS) gene, resulting in the accumulation of toxic porphyrins in various tissues such as the skin, red blood cells, bones, and teeth. We report the case of a 34-year-old Pakistani male who presented with a history of photosensitivity, skin deformities, and red urine since childhood. Over the past 13 months, he developed pancytopenia and required multiple blood transfusions. Clinical examination revealed splenomegaly, haemolytic anaemia, and characteristic skin changes. Despite ongoing dermatological treatment, the patient underwent splenectomy due to transfusion dependence and hypersplenism. Post-splenectomy, his blood counts normalized. The patient was advised strict photoprotection, vaccination, and long-term follow-up. This case underscores the importance of early diagnosis, transfusion management, and the role of splenectomy in patients with CEP complicated by pancytopenia, highlighting the need for continuous care and long-term disease management.

Keywords: Congenital Erythropoietic Porphyria, Porphyria, Pancytopenia, Splenectomy, Photosensitivity.