Funding sources British Porphyria Association; Quality of Life Research Fund, Department of Dermatology and Wound Healing, Cardiff University; Research and Development Small Grant, University Hospital of Wales, Cardiff; Research and Development Fund, Royal Gwent Hospital, Newport; British Skin Foundation Small Grant, U.K.
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases
Article first published online: 18 SEP 2012
© 2012 The Authors. BJD © 2012 British Association of Dermatologists
British Journal of Dermatology
Volume 167, Issue 4, pages 901–913, October 2012
How to Cite
Katugampola, R.P., Badminton, M.N., Finlay, A.Y., Whatley, S., Woolf, J., Mason, N., Deybach, J.C., Puy, H., Ged, C., de Verneuil, H., Hanneken, S., Minder, E., Schneider-Yin, X. and Anstey, A.V. (2012), Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. British Journal of Dermatology, 167: 901–913. doi: 10.1111/j.1365-2133.2012.11160.x
Conflicts of interest None declared.
- Issue published online: 26 SEP 2012
- Article first published online: 18 SEP 2012
- Accepted manuscript online: 20 JUL 2012 11:22AM EST
- Accepted for publication 10 July 2012
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 7·6 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.