Erythropoietic protoporphyria in an adult with sequential liver and hematopoietic stem cell transplantation: A case report

Erythropoietic protoporphyria (EPP) is a rare inherited disorder of the heme biosynthesis pathway resulting in the accumulation of protoporphyrins in the blood, erythrocytes, and other tissues. Because of a gene mutation in the FECH gene, ferrochelatase, the enzyme involved in the final step of heme...

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Bibliographic Details
Published in:American journal of transplantation 2018-03, Vol.18 (3), p.745-749
Main Authors: Windon, Annika L., Tondon, Rashmi, Singh, Nathan, Abu‐Gazala, Samir, Porter, David L., Russell, J. Eric, Cook, Colleen, Lander, Elaine, Smith, Georgeine, Olthoff, Kim M., Shaked, Abraham, Hoteit, Maarouf, Furth, Emma E., Serper, Marina
Format: Article
Language:English
Subjects:
Adult
Bone marrow
Bone marrow transplantation
bone marrow/hematopoietic stem cell transplantation
Case reports
cirrhosis
clinical research/practice
Erythrocytes
Erythropoietic protoporphyria
Ferrochelatase
hematology/oncology
Hematopoietic Stem Cell Transplantation - methods
Hematopoietic stem cells
Heme
Hepatocytes
Humans
liver allograft function/dysfunction
Liver cirrhosis
Liver diseases
Liver transplantation
Liver Transplantation - methods
liver transplantation/hepatology
Liver transplants
Male
Pediatrics
Photosensitivity
Point mutation
Prognosis
Protoporphyria, Erythropoietic - therapy
Protoporphyrin
Stem cell transplantation
Stem cells
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Summary:Erythropoietic protoporphyria (EPP) is a rare inherited disorder of the heme biosynthesis pathway resulting in the accumulation of protoporphyrins in the blood, erythrocytes, and other tissues. Because of a gene mutation in the FECH gene, ferrochelatase, the enzyme involved in the final step of heme synthesis, is deficient in these patients. Although the major symptom of this disorder is photosensitivity, rarely, it can cause progressive liver disease requiring liver transplantation (LT). However, LT is not curative and only bone marrow transplantation (BMT) can correct the underlying enzymatic defect. Because liver disease results from accumulation of protoporphyrin in the liver, LT without hematopoietic stem cell transplantation leaves the new liver at risk for similar EPP‐related damage. A handful of pediatric patients undergoing sequential LT and stem cell transplantation have been described in the literature; however, to date none has been described in detail in adults. We report a case of an adult male with EPP and liver failure who successfully underwent a sequential liver and hematopoietic stem cell transplantation (HSCT). This case report describes sequential liver and hematopoietic stem cell transplantation in an adult with liver failure and severe erythropoietic protoporphyria.
ISSN:1600-6135
1600-6143
DOI:10.1111/ajt.14581