FOR SUPPORT, CALL 1-866-APF-3635 (273-3635)
A publication by Dr. Amy Dickey and other esteemed porphyria experts, "Evidence in the UK Biobank for the Underdiagnosis of Erythropoietic Protoporphyria," has been published in the Genetics in Medicine Journal.
Purpose: Erythropoietic Protoporphyria (EPP), characterized by painful cutaneous photosensitivity, results from pathogenic variants in ferrochelatase (FECH). For 96% of patients, EPP results from coinheriting a rare pathogenic variant in trans of a common hypomorphic variant c.315-48T>C (minor allele frequency 0.05). The estimated prevalence of EPP derived from the number of diagnosed individuals in Europe is 0.00092%, but this may be conservative due to underdiagnosis. No study has estimated EPP prevalence using large genetic data sets.
