Bone marrow transplant for X-linked protoporphyria with severe hepatic fibrosis

David F. Butler, Kevin F. Ginn, James F. Daniel, Joseph R. Bloomer, Alexander Kats, Nancy Shreve, Gary D. Myers

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


XLP is an erythroid porphyria that results in variable cutaneous photosensitivity due to accumulation of protoporphyrin. The genetic defect in XLP is mutation of the gene ALAS2, resulting in gain of function for the erythroid enzyme 5-aminolevulinate synthase 2. Previous reports have shown that protoporphyrin-induced liver disease may also occur in XLP, occasionally severe enough to warrant liver transplantation; however, transplantation may be followed by injury to the graft due to continued presence of the underlying metabolic disorder in the bone marrow. We present a case of XLP with severe liver disease successfully treated with HPCT to avoid liver transplantation. The case also demonstrates the feasibility of reduced intensity transplant to provide engraftment sufficient for correction of porphyria and tolerability of reduced intensity conditioning containing TLI in the face of severe liver injury.

Original languageEnglish
Pages (from-to)E106-E110
JournalPediatric transplantation
Issue number4
StatePublished - Jun 1 2015


  • allogeneic stem cell transplantation
  • bone marrow transplantation
  • chronic liver disease
  • cirrhosis
  • erythropoietic protoporphyria
  • pediatrics


Dive into the research topics of 'Bone marrow transplant for X-linked protoporphyria with severe hepatic fibrosis'. Together they form a unique fingerprint.

Cite this