Congenital Erythropoietic Porphyria: Five Years of Observation with Standard Treatment - A Case Report

    December 2023 in “ Oxford medical case reports ”
    Marine Kamalyan, Mohammad Mohammadi
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    TLDR Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
    Congenital erythropoietic porphyria (CEP) is a rare autosomal-recessive disorder characterized by a deficiency in uroporphyrinogen III synthase, leading to severe photosensitivity, hypertrichosis, and tissue mutilation. This case report details the first CEP case in Armenia, involving a 22-year-old man diagnosed in France. Over five years of standard treatment, the patient's symptoms worsened despite preventative measures, indicating that current recommendations were ineffective. An allogeneic haematopoietic stem cell transplant is being considered as a potential cure.
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