Abstract:
:Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of heme synthesis characterized by reduced activity of uroporphyrinogen III synthase and the accumulation of nonphysiologic isomer I porphyrin metabolites, resulting in ineffective erythropoiesis and devastating skin photosensitivity. Management of the disease primarily consists of supportive measures. Increased activity of 5-aminolevulinate synthase 2 (ALAS2) has been shown to adversely modify the disease phenotype. Herein, we present a patient with CEP who demonstrated a remarkable improvement in disease manifestations in the setting of iron deficiency. Hypothesizing that iron restriction improved her symptoms by decreasing ALAS2 activity and subsequent porphyrin production, we treated the patient with off-label use of deferasirox to maintain iron deficiency, with successful results. We confirmed the physiology of her response with marrow culture studies.
journal_name
Bloodjournal_title
Bloodauthors
Egan DN,Yang Z,Phillips J,Abkowitz JLdoi
10.1182/blood-2014-07-584664subject
Has Abstractpub_date
2015-07-09 00:00:00pages
257-61issue
2eissn
0006-4971issn
1528-0020pii
blood-2014-07-584664journal_volume
126pub_type
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