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Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelastase gene in hematopoietic cells

Goodwin, Richard G., Kell, William Jonathan, Laidler, Peter, Long, C. Colin, Whatley, Sharon D., McKinley, Mark, Badminton, Michael Norman, Burnett, Alan Kenneth, Williams, Geraint Trefor and Elder, George Hill 2006. Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelastase gene in hematopoietic cells. Blood 107 (1) , pp. 60-62. 10.1182/blood-2004-12-4939

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Abstract

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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
ISSN: 1528-0020
Last Modified: 18 Oct 2017 08:14
URI: http://orca.cf.ac.uk/id/eprint/138

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