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Blood, 1 January 2006, Vol. 107, No. 1, pp. 60-62. Prepublished online as a Blood First Edition Paper on September 8, 2005; DOI 10.1182/blood-2004-12-4939. This Article Full Text Full Text (PDF) All Versions of this Article: 2004-12-4939v1 107/1/60    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Goodwin, R. G. Articles by Elder, G. H. Search for Related Content PubMed PubMed Citation Articles by Goodwin, R. G. Articles by Elder, G. H. Related Collections Hematopoiesis and Stem Cells Neoplasia Brief Reports Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  CLINICAL TRIALS AND OBSERVATIONS Brief report Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells Richard G. Goodwin, W. Jonathan Kell, Peter Laidler, C. Colin Long, Sharon D. Whatley, Mark McKinley, Michael N. Badminton, Alan K. Burnett, Geraint T. Williams, and George H. Elder From the Departments of Dermatology, Haematology, Pathology, Medical Biochemistry and Immunology, University Hospital of Wales, Cardiff, and School of Medicine, Cardiff University, Cardiff, United Kingdom. Late-onset erythropoietic protoporphyria (EPP) is a rare complication of myelodysplastic syndrome (MDS) but has not been described in association with a myeloproliferative disorder (MPD). EPP is normally an inherited disorder characterized by photosensitivity that starts in early childhood and results from overproduction of protoporphyrin secondary to ferrochelatase (FECH) deficiency. Severe liver disease occurs in 1% to 2% of patients. Here we report that severe photosensitivity and cholestatic liver disease in a patient with a myeloproliferative disorder was caused by excess protoporphyrin production from a clone of hematopoietic cells in which one FECH allele had been deleted. Our observations suggest that the usual explanation for the association of late-onset EPP with MPD and MDS is acquired somatic mutation of one FECH allele in bone marrow and show for the first time that the consequent overproduction of protoporphyrin may be severe enough to cause acute liver damage. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

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