Hematopoietic stem cell transplant for erythropoietic porphyrias in pediatric patients. Issue 9 (10th July 2021)

• Record Type: Journal Article
• Authors: Wang, YunZu M.; Gloude, Nicholas J.; Davies, Stella M.; Lucky, Anne W.; Nelson, Adam S.
• Is Part Of: Pediatric blood & cancer. Volume 68:Issue 9(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-07-10
• Subjects: congenital erythropoietic porphyria -- erythropoietic protoporphyria -- pediatric hematopoietic stem cell transplant -- supportive care; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.29231
• Languages: English
• ISSNs: 1545-5009

Abstract

Abstract: 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.