Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.

[erythropoietic protoporphyria]

To investigate the demographic , clinical , biochemical and genotypic features of patients with erythropoietic protoporphyria (EPP ) in a Swedish cohort .Cross-sectional questionnaire , biochemical and genetic study .Sweden .Fifty -one Swedish individuals known in 2008 to have EPP confirmed by molecular diagnosis . There were no exclusion criteria ; all patients were included in the demographic and genetic study . A total of 92 % participants completed the questionnaire study and 82 % the biochemical study .The prevalence of EPP was 1 : 180 ,000 . Nine novel ferrochelatase gene mutations were found . The most commonly reported age at onset of symptoms was the first year of life and the mean age at diagnosis was 22 years . Painful photosensitivity was the main symptom . Exogenous factors other than sunlight were frequently reported to cause cutaneous symptoms . One in five patients reported a positive effect of beta -carotene therapy . A marked impact of EPP on quality of life was reported . Women had a significantly lower mean erythrocyte protoporphyrin concentration than men . Of all participants , 84 % had insufficient vitamin D concentrations , 44 % had below normal serum ferritin or transferrin saturation levels and red cell abnormalities were common .The notably delayed diagnosis suggests the need for an increased awareness of EPP . Disturbed erythropoiesis , biochemical signs of iron deficiency and low vitamin D levels are frequent findings in this disease . New and better treatments are needed as current treatment options for symptom amelioration are limited . Vitamin D supplementation should be considered .