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

Author:

Portich Júlia Plentz1,Ribeiro Aline Sinhorelo1,Rodrigues Taniguchi Adriano Nori1,Backes Ariane2,de Souza Carolina Fischinger Moura34,Kieling Carlos Oscar56,Scherer Fernanda Fetter1,de Oliveira Poswar Fabiano47,Leipnitz Ian86,Doederlein Schwartz Ida Vanessa479,Sekine Leo10,Rigoni Lisandra Della Costa1,Marquardt da Silveira Luciana110,de Almeida Furlanetto Marina1,Adami Marina Rossato56,Breunig Raquel Cristine10,Guedes Renata Rostirola56,do Amaral Sheila Nogueira1,Gonçalves Vieira Sandra Maria6,de Brum Soares Tahiane1,Silva Thiago Oliveira47,da Rocha Silla Lúcia Mariano1,Astigarraga Claudia Caceres1,Paz Alessandra Aparecida1,Daudt Liane Esteves1

Affiliation:

1. Bone Marrow Transplantation

2. Pediatric Surgery Service

3. Pediatrics

4. Medical Genetics Service

5. Children Liver Transplantation Program

6. Digestive Surgery Service, Hospital de Clínicas de Porto Alegre

7. Department of Genetics

8. Hemotherapy

9. Post-Graduation Program in Genetics and Molecular Biology

10. Post-Graduation Program in Child’s Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

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.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Reference28 articles.

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