Late onset erythropoietic porphyria [gunther's disease]

ABSTRACT

Congenital erythropoietic porphyria [CEP] or Gunther's disease is inherited disorder of porphyrin heme synthetic pathway that usually presents early in life. A very rare form of this disease has its onset in later years of life, called late onset erythropoietic porphyria [late onset EP]. Fourteen cases of late onset EP have been reported to-date. We report another case of this rare entity in a 40 years old male with associated findings of haemolysis and thrombocytopenia