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Bone marrow transplant for X-linked protoporphyria with severe hepatic fibrosis
David F Butler1, Kevin F Ginn, James F Daniel
1Department of Pediatrics, Childrens Mercy Hospital, Kansas City, MO, USA.
Pediatric Transplantation
|April 10, 2015
Summary
X-linked protoporphyria (XLP) causes photosensitivity and liver disease. Hematopoietic progenitor cell transplantation (HPCT) successfully treated severe XLP liver disease, avoiding liver transplant and demonstrating reduced intensity conditioning feasibility.
Area of Science:
- Biochemistry
- Genetics
- Hematology
Background:
- X-linked protoporphyria (XLP) is an erythropoietic porphyria caused by ALAS2 gene mutations.
- Accumulation of protoporphyrin leads to photosensitivity and potential liver damage.
Observation:
- A patient with severe XLP-associated liver disease is presented.
- The patient underwent reduced-intensity hematopoietic progenitor cell transplantation (HPCT).
Findings:
- HPCT successfully treated the severe liver disease, obviating the need for liver transplantation.
- Reduced-intensity conditioning, including TLI, was tolerated despite severe liver injury.
- Engraftment was sufficient to correct the underlying porphyria metabolic defect.
Implications:
- HPCT is a viable alternative to liver transplantation for severe XLP liver disease.
- Reduced-intensity conditioning regimens are feasible and effective in XLP patients with significant liver compromise.
- This approach offers a potential cure for XLP by addressing the bone marrow's metabolic disorder.
