title: Congenital erythropoietic porphyria: dilemmas in present day management.
abstract: Congenital erythropoietic porphyria is a rare autosomal recessive disorder of haem biosynthesis caused by a deficiency of uroporphyrinogen III synthetase. There is resultant accumulation and hyperexcretion of porphyrinogens of the isomer I variety. These are converted by spontaneous oxidation into their corresponding photoactive porphyrins leading to photodamage. Accumulation of porphyrins results in haemolysis and extensive photosensitivity. The consequences of chronic haemolysis are splenomegaly, reactive erythroid hyperplasia, erythrodontia, bone fragility, extreme photosensitivity and photomutilation. We present a 35-year-old man who has the severe infantile form and illustrates the haematological and photodestructive complications despite attempts at treatment with hypertransfusion, oral charcoal therapy and beta-carotene. Allogenic bone marrow transplantation has been considered but because of the high associated mortality this procedure has been discounted at present in the management of our patient.
authors.affiliation: Departments of Dermatology, Haematology, and Clinical Biochemistry, Kings College Hospital, Denmark Hill, London, UK. simon.dawe@kingsch.nhs.uk
authors.forename: S A
authors.initials: SA
authors.lastname: Dawe
authors.forename: T J
authors.initials: TJ
authors.lastname: Peters
authors.forename: A
authors.initials: A
authors.lastname: Du Vivier
authors.forename: J D
authors.initials: JD
authors.lastname: Creamer
mesh_terms: D000328:Adult; D000743:Anemia, Hemolytic / Q000209:etiology / Q000628:therapy; D001803:Blood Transfusion; D001847:Bone Diseases / Q000209:etiology; D003676:Deferoxamine / Q000008:administration & dosage; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods; D006801:Humans; D007502:Iron Chelating Agents / Q000008:administration & dosage; D019190:Iron Overload / Q000188:drug therapy / Q000209:etiology; D017092:Porphyria, Erythropoietic / Q000150:complications / Q000628:therapy*
chemical_list: D007502:Iron Chelating Agents; D003676:Deferoxamine