| Autor: |
Goodwin RG; Department of Dermatology, University Hospital of Wales, Cardiff, United Kingdom., Kell WJ, Laidler P, Long CC, Whatley SD, McKinley M, Badminton MN, Burnett AK, Williams GT, Elder GH |
| Jazyk: |
angličtina |
| Zdroj: |
Blood [Blood] 2006 Jan 01; Vol. 107 (1), pp. 60-2. Date of Electronic Publication: 2005 Sep 08. |
| DOI: |
10.1182/blood-2004-12-4939 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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