04138 Potential causes of dysregulated homocysteine metabolism in patients affected by acute intermittent porphyria

from liver function analyses (transaminases decreased from 3x ULN to normal values).Ferritin was used as index to monitor iron status obtaining a significant reduction after 2 months from 700 ng/ml to 81 ng/ml (v.n.= 13-400 mg/ml).Patient had an improvement of lesions on the scalp and in photoexposed areas.The clinical tolerance was excellent for patient without any adverse effect to report.Conclusion This is the first report in the literature applying a successfull protocol in a higly uncommom form of porphyria, hence the importance of the case.Higher tolerance to the sun induced by afamelanotide reduced phototoxic chronic damage.If therapy was established precociously, some irreversibile damages, such as phalanges mutilation, could have been reduced and also palpebral ectropion.It suggests that early diagnosis and treatment might prevent the occurrence of devastating and severe consequences of HEP.