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Erythropoietic protoporphyria (EPP) at 40. Where are we now?
Author(s) -
Sarkany R. P. E.
Publication year - 2002
Publication title -
photodermatology, photoimmunology and photomedicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.736
H-Index - 60
eISSN - 1600-0781
pISSN - 0905-4383
DOI - 10.1034/j.1600-0781.2002.00708.x
Subject(s) - erythropoietic protoporphyria , disease , medicine , clinical practice , biology , pathology , protoporphyrin , family medicine , biochemistry , porphyrin
Since Professor Magnus first defined erythropoietic protoporphyria (EPP) in 1961, there has been considerable progress in the understanding this disease. The past decade has been a period of spectacular progress in understanding the genetics and pathogenesis of the disease by molecular investigation. However, progress in therapy for EPP has been slower, and has been dogged by difficulty in assessing treatment efficacy in patients. We are now entering an era in which advances in molecular genetics are directly affecting patient management. This review summarises laboratory and clinical progress in EPP in the past 40 years, and assesses the potential impact of molecular biology on clinical practice.