AI Article Synopsis
- Congenital erythropoietic porphyria (CEP) and erythropoietic protoporphyria (EPP) have serious skin, blood, and liver complications that can significantly limit quality of life.
- A study from our institution detailed the outcomes of five patients with these conditions who underwent hematopoietic stem cell transplant (HSCT), with four patients having CEP and one with EPP.
- Results showed that all four patients are currently symptom-free and fully integrated with donor cells after treatment, highlighting the potential of HSCT to correct the heme pathway and reduce organ damage, particularly when performed early.
Article 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.
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| http://dx.doi.org/10.1002/pbc.29231 | DOI Listing |
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