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Bone marrow transplant for X ‐linked protoporphyria with severe hepatic fibrosis
Author(s) -
Butler David F.,
Ginn Kevin F.,
Daniel James F.,
Bloomer Joseph R.,
Kats Alexander,
Shreve Nancy,
Myers Gary D.
Publication year - 2015
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/petr.12472
Subject(s) - medicine , protoporphyrin , erythropoietic protoporphyria , porphyria , liver injury , liver transplantation , transplantation , acute intermittent porphyria , liver function , liver function tests , pathology , biochemistry , porphyrin , chemistry
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 ALAS 2 , 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.