Congenital erythropoietic porphyria: A single-observer clinical study of 29 cases

Katugampola, Ruwani P., Badminton, Michael Norman, Finlay, Andrew Yule ORCID: https://orcid.org/0000-0003-2143-1646, Whatley, Sharon D., Woolf, Jacqueline ORCID: https://orcid.org/0000-0002-3009-9270, Mason, Nicola G., Deybach, J. C., Puy, H., Ged, C., de Verneuil, H., Hanneken, S., Minder, E., Schneider-Yin, X. and Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144 2012. Congenital erythropoietic porphyria: A single-observer clinical study of 29 cases. British Journal Of Dermatology 167 (4) , pp. 901-913. 10.1111/j.1365-2133.2012.11160.x

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Abstract

Background: Congenital erythropoietic porphyria (CEP) is an autosomal recessive cutaneous porphyria caused by decreased activity of uroporphyrinogen III synthase (UROS). Its predominant characteristics include bullous cutaneous photosensitivity to visible light from early infancy, progressive photomutilation and chronic haemolytic anaemia. Due to its rarity and genetic heterogeneity, clinical phenotypes are unclear and its impact on health-related quality of life (HRQoL) has not been previously assessed. Objectives To define comprehensively CEP phenotypes and assess their impact on HRQoL, and to correlate these factors with laboratory parameters. Methods: A single observer assessed patients with CEP from four European countries. Results: Twenty-seven unrelated patients with CEP, aged between 7Æ6 and 65 years, participated in the study. The patients came from the U.K. (17), France (4), Switzerland (4) and Germany (2). Additional data were obtained for two deceased patients. Newly characterized features of CEP include acute-onset cutaneous and noncutaneous symptoms immediately following sunlight exposure, and pink erythematous facial papules. There was a lack of consistent genotype– phenotype correlation in CEP. The main poor prognostic factors in CEP are the early age of disease onset and haematological complications. Conclusions CEP is a multisystem disease; cutaneous, ocular, oral and skeletal manifestations also contribute to disease severity and impact on HRQoL, in addition to the haematological complications. The rarity of the disease can lead to delayed diagnosis. The lack of consistent genotype–phenotype correlation in CEP suggests a contribution to phenotype from other factors, such as environment, patients’ photoprotective behaviour and genes other than UROS. There is currently an unmet need for multidisciplinary management of patients with CEP.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General) R Medicine > RL Dermatology
Publisher:	Blackwell Publishing
ISSN:	0007-0963
Last Modified:	06 May 2023 02:08
URI:	https://orca.cardiff.ac.uk/id/eprint/42790

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