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Br J Dermatol. 2012 Oct;167(4):888-900. doi: 10.1111/j.1365-2133.2012.11154.x. Epub 2012 Sep 18.

A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases.

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  • 1Department of Dermatology and Wound Healing, Cardiff University, UK. ruwanik@hotmail.com

Abstract

BACKGROUND:

Congenital erythropoietic porphyria (CEP) is an autosomal recessive photomutilating porphyria with onset usually in childhood, where haematological complications determine prognosis. Due to its extreme rarity and clinical heterogeneity, management decisions in CEP are often difficult.

OBJECTIVES:

To develop a management algorithm for patients with CEP based on data from carefully characterized historical cases.

METHODS:

A single investigator collated data related to treatments and their outcomes in 29 patients with CEP from the U.K., France, Germany and Switzerland.

RESULTS:

Six children were treated with bone marrow transplantation (BMT); five have remained symptomatically cured up to 11.5 years post-transplantation. Treatments such as oral charcoal, splenectomy and chronic hypertransfusion were either of no benefit or were associated with complications and negative impact on health-related quality of life. Lack of consistent genotype-phenotype correlation meant that this could not be used to predict disease prognosis. The main poor prognostic factors were early age of disease onset and severity of haematological manifestations.

CONCLUSIONS:

A management algorithm is proposed where every patient, irrespective of disease severity at presentation, should receive a comprehensive, multidisciplinary clinical assessment and should then be reviewed at intervals based on their predicted prognosis, and the rate of onset of complications. A BMT should be considered in those with progressive, symptomatic haemolytic anaemia and/or thrombocytopenia. Uroporphyrinogen III synthase genotypes associated with poor prognosis would additionally justify consideration for a BMT. Rigorous photoprotection of the skin and eyes from visible light is essential in all patients.

© 2012 The Authors. BJD © 2012 British Association of Dermatologists.

PMID:
22804244
[PubMed - indexed for MEDLINE]
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