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

Abstract

BACKGROUND:

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.

METHODS:

We aim to describe the first sequential LT and HSCT for EPP performed in Latin America, besides reviewing the present-day literature.

RESULTS:

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.

CONCLUSIONS:

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.

• Authors: Júlia Plentz Portich, Aline Sinhorelo Ribeiro, Adriano Nori Rodrigues Taniguchi, Ariane Backes, Carolina Fischinger Moura de Souza, Carlos Oscar Kieling, Fernanda Fetter Scherer, Fabiano de Oliveira Poswar, Ian Leipnitz, Ida Vanessa Doederlein Schwartz, Leo Sekine, Lisandra Della Costa Rigoni, Luciana Marquardt da Silveira, Marina de Almeida Furlanetto, Marina Rossato Adami, Raquel Cristine Breunig, Renata Rostirola Guedes, Sheila Nogueira do Amaral, Sandra Maria Gonçalves Vieira, Tahiane de Brum Soares, Thiago Oliveira Silva, Lúcia Mariano da Rocha Silla, Claudia Caceres Astigarraga, Alessandra Aparecida Paz, Liane Esteves Daudt
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 45 Issue 7 Pg. 416-422 (10 01 2023) ISSN: 1536-3678 [Electronic] United States
• PMID: 37539993 (Publication Type: Review, Case Reports, Journal Article)
• Copyright: Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.

Topics

• Female
• Humans
• Adolescent
• Bone Marrow Transplantation
• Protoporphyria, Erythropoietic (therapy, pathology)
• Hematopoietic Stem Cell Transplantation (methods)
• Liver Transplantation (methods)
• Liver Diseases
• Transplantation Conditioning
• Graft vs Host Disease