Congenital erythropoietic porphyria five years observation with standard treatment: a case report

Abstract

Abstract Porphyrias are a group of diseases characterized by a deficiency of enzymes in the haem biosynthetic pathway. Congenital Erythropoietic porphyria is a rare autosomal-recessive disorder lacking uroporphyrinogen III synthase. This inherited deficiency results in accumulating uroporphyrinogen I and coproporphyrinogen I in the bone marrow, skin, bones, and other tissues, ultimately excreted via urine and faeces. Clinical manifestations include severe photosensitivity on open body parts with blisters, scarring, hypertrichosis, and mutilations. We describe the first case of CEP in Armenia, with a diagnosis performed in Centre Francais Des (LBMR) Porphyries (France, Paris). It concerns a 22-year-old Armenian man suffering from photosensitivity, excessive hair growth, mutilation, and pink urine discolouration. The five years of follow-up have revealed worsening symptomatology despite preventative measures and demonstrate that standard recommendations did not alleviate the patient’s deteriorating conditions. A cure with an allogeneic haematopoietic stem cell transplant is under strong consideration.