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Congenital erythropoietic porphyria: dilemmas in present day management
Author(s) -
Dawe S. A.,
Stephens A. D.,
Peters T. J.,
Du Vivier A.,
Creamer J. D.
Publication year - 2002
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1046/j.1365-2230.2002.01166.x
Subject(s) - porphyria , haemolysis , acute intermittent porphyria , photosensitivity , medicine , erythropoietic protoporphyria , anemia , protoporphyrin , endocrinology , immunology , chemistry , biochemistry , porphyrin , physics , quantum mechanics
Summary 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.