Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review

Erythropoietic protoporphyria (EPP) is a rare inherited disease of heme biosynthesis resulting in the accumulation of protoporphyrin, characterized by liver failure in a minority of cases. Although liver transplant (LT) is the therapeutic strategy for advanced hepatic disease, it does not correct th...

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Bibliographic Details
Published in:	Journal of pediatric hematology/oncology Vol. 45; no. 7; pp. 416 - 422
Main Authors:	Portich, Júlia Plentz, Ribeiro, Aline Sinhorelo, Rodrigues Taniguchi, Adriano Nori, Backes, Ariane, de Souza, Carolina Fischinger Moura, Kieling, Carlos Oscar, Scherer, Fernanda Fetter, de Oliveira Poswar, Fabiano, Leipnitiz, Ian, Doederlein Schwartz, Ida Vanessa, Sekine, Leo, Rigoni, Lisandra Della Costa, Marquardt da Silveira, Luciana, de Almeida Furlanetto, Marina, Adami, Marina Rossato, Breunig, Raquel Cristine, Guedes, Renata Rostirola, do Amaral, Sheila Nogueira, Gonçalves Vieira, Sandra Maria, de Brum Soares, Tahiane, Silva, Thiago Oliveira, da Rocha Silla, Lúcia Mariano, Astigarraga, Claudia Caceres, Paz, Alessandra Aparecida, Daudt, Liane Esteves
Format:	Journal Article
Language:	English
Published:	United States 01-10-2023
Online Access:	Get full text
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Summary:	Erythropoietic protoporphyria (EPP) is a rare inherited disease of heme biosynthesis resulting in the accumulation of protoporphyrin, characterized by liver failure in a minority of cases. Although liver transplant (LT) is the therapeutic strategy for advanced hepatic disease, it does not correct the primary defect, which leads to recurrence in liver graft. Thus, hematopoietic stem cell transplantation (HSCT) is an approach for treating EPP. We aim to describe the first sequential LT and HSCT for EPP performed in Latin America, besides reviewing the present-day literature. The patient, a 13-year-old female with a history of photosensitivity, presented with symptoms of cholestatic and hepatopulmonary syndrome and was diagnosed with EPP. Liver biopsy demonstrated cirrhosis. She was submitted to a successful LT and showed improvement of respiratory symptoms. However, she had disease recurrence on the liver graft. She underwent a myeloablative HSCT using a matched unrelated donor, conditioning with BuCy (busulfan and cyclophosphamide), and GvHD (graft vs. host disease) prophylaxis with ATG (thymoglobulin), tacrolimus and methotrexate. Neutrophil engraftment occurred on D+18. She has presented mixed chimerism, but normalization of PP levels, being 300 days after HSCT, in good state of health and normal liver function. Consecutive LT and HSCT for EPP is a procedure that has been described in 10 cases in the literature and, even though these patients are a highly diversified population, studies have shown favorable results. This concept of treatment should be considered in patients with established liver disease.
ISSN:	1077-4114 1536-3678
DOI:	10.1097/MPH.0000000000002738