Published online October 30, 2006
PEDIATRICS Vol. 118 No. 6 December 2006, pp. e1896-e1899 (doi:10.1542/peds.2006-0833)
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EXPERIENCE & REASON

Sequential Liver and Bone Marrow Transplantation for Treatment of Erythropoietic Protoporphyria

Elizabeth B. Rand, MDa, Nancy Bunin, MDb, William Cochran, MDc, Eduardo Ruchelli, MDd, Kim M. Olthoff, MDe and Joseph R. Bloomer, MDf

a Divisions of Gastroenterology
b Oncology, Department of Pediatrics
e Division of Transplantation, Department of Surgery
d Department of Pathology, University of Pennsylvania, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
c Division of Gastroenterology, Department of Pediatrics, Geisinger Medical Center, Danville, Pennsylvania
f Division of Gastroenterology, Department of Medicine, University of Alabama, Tuscaloosa, Alabama

ABSTRACT

Erythropoietic protoporphyria is a disorder of heme synthesis in which deficient ferrochelatase activity leads to excess production and biliary excretion of protoporphyrin. The main clinical features, photosensitivity and hepatobiliary disease that may progress to liver failure, are caused by the toxicity of protoporphyrin. Liver transplantation has been used to treat liver failure in erythropoietic protoporphyria, but excess production of protoporphyrin by the bone marrow continues causing recurrence of liver disease in the majority of patients. This is the first report of successful sequential liver and bone marrow transplantation in a patient with liver failure as a result of erythropoietic protoporphyria. This combination corrected the severe phenotype, resolving the severe photosensitivity and halting erythropoietic protoporphyria associated liver graft injury. Splenectomy seemed to facilitate the successful bone marrow transplant.

Key Words: liver transplantation • bone marrow transplantation • porphyria

Abbreviations: EPP, erythropoietic protoporphyria • FECH, ferrochelatase • OLT, orthotopic liver transplantation • ERCP, endoscopic retrograde cholangiopancreatography • HSC, hematopoietic stem cells

Accepted Jun 20, 2006.


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