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The role for BMT in erythropoietic protoporphyria

Bone Marrow Transplantation volume 45, pages 393–394 (2010)Cite this article

In the past few years, a number of hematopoietic SCTs (HSCTs) have been performed in erythropoietic protoporphyria (EPP). A summary and interpretation of the collected experience may serve to formulate possible indications for HSCT in EPP.

Erythropoietic protoporphyria is an inherited disorder of heme synthesis caused by mutations in the ferrochelatase (FECH) gene. The consequential reduction of enzyme activity results in the accumulation of protoporphyrin, a hydrophobic and highly photoactive substance, which is excreted solely through the hepatobiliary route. For the majority of patients, EPP is a psychosocially disabling, but not life-threatening, disease with painful photosensitivity. Severe liver disease requiring life-saving liver transplantation (LT) occurs in a few percent of cases. HSCT has been discussed as a potential treatment, but has not been used until recently. Apart from a fear of inherent HSCT risks, there has been an uncertainty about whether EPP is a strictly erythropoietic porphyria. Possibly, there may be individual heterogeneity with significant hepatic contribution to the excess protoporphyrin in some individuals.1 In addition, loss of photosensitivity has been described after LT.2, 3 If there truly are dual target organs in EPP, erythroid ferrochelatase replacement by HSCT might not be sufficient to cure photosensitivity and prevent future liver disease.

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Acknowledgements

We thank Drs Steve Mackinnon, Eliane Gluckman and Frans Smiers for generously sharing their experience.

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  1. Department of Gastroenterology and Hepatology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden

    S Wahlin

  2. Department of Laboratory Medicine, Porphyria Centre Sweden, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden

    P Harper

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  1. S Wahlin
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Correspondence to S Wahlin.

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Wahlin, S., Harper, P. The role for BMT in erythropoietic protoporphyria. Bone Marrow Transplant 45, 393–394 (2010). https://doi.org/10.1038/bmt.2009.132

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