INTRODUCTION: Congenital erythropoietic porphyria is one of the rare forms of an intriguing group of metabolic disorders known as porphyrias. Less than 200 cases have been reported in the literature. CLINICAL PRESENTATION: We report the case of a 27-year-old gentleman who had the clinical profile suggestive of porphyria, now presenting with anaemia. The type of porphyria was found to be congenital erythropoietic porphyria by biochemical assay and cause for anaemia was haemolysis, a well-known association with the erythropoietic porphyrias. TREATMENT: The management of porphyrias is essentially symptomatic. He was treated with blood transfusions and haematinics. CONCLUSION: The patient improved symptomatically and he is on regular followup. With the development of gene therapy, a specific cure for this rare type of porphyria is expected in the near future.
INTRODUCTION: Congenital erythropoietic porphyria is one of the rare forms of an intriguing group of metabolic disorders known as porphyrias. Less than 200 cases have been reported in the literature. CLINICAL PRESENTATION: We report the case of a 27-year-old gentleman who had the clinical profile suggestive of porphyria, now presenting with anaemia. The type of porphyria was found to be congenital erythropoietic porphyria by biochemical assay and cause for anaemia was haemolysis, a well-known association with the erythropoietic porphyrias. TREATMENT: The management of porphyrias is essentially symptomatic. He was treated with blood transfusions and haematinics. CONCLUSION: The patient improved symptomatically and he is on regular followup. With the development of gene therapy, a specific cure for this rare type of porphyria is expected in the near future.