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Hematopoietic stem cell transplant for erythropoietic porphyrias in pediatric patients
Author(s) -
Wang YunZu M.,
Gloude Nicholas J.,
Davies Stella M.,
Lucky Anne W.,
Nelson Adam S.
Publication year - 2021
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.29231
Subject(s) - erythropoietic protoporphyria , medicine , porphyria , hematopoietic stem cell transplantation , stem cell , haematopoiesis , erythropoiesis , hematopoietic stem cell , gastroenterology , transplantation , anemia , protoporphyrin , chemistry , porphyrin , photochemistry , biology , genetics
Cutaneous, hematopoietic, and hepatic manifestations of congenital erythropoietic porphyria (CEP) and erythropoietic protoporphyria (EPP) can be debilitating. We present our institution's experience with five patients with porphyria who underwent hematopoietic stem cell transplant (HSCT). Four patients with CEP, including three under age 2, received myeloablation. One patient with EPP, with prior liver transplant, received reduced intensity conditioning (RIC). Four patients are alive without porphyria symptomology and with full donor chimerism. HSCT corrects the defective heme pathway and should be considered early in patients with severe erythropoietic porphyrias to minimize end‐organ damage. RIC regimens can minimize toxicity in patients with comorbidities.