Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria.

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

Blood

journal_title

Blood

authors

Egan DN,Yang Z,Phillips J,Abkowitz JL

doi

10.1182/blood-2014-07-584664

subject

Has Abstract

pub_date

2015-07-09 00:00:00

pages

257-61

issue

2

eissn

0006-4971

issn

1528-0020

pii

blood-2014-07-584664

journal_volume

126

pub_type

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