Erythropoietic Protoporphyria (EPP)

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Genetic Disorders No Comments

– Usually present in 20’s

– ‘Burning’ sensation with UV exposure (usually UVA)

Investigations

– Diagnosis: porphyrin screen blood test (protect from light, send to reference lab e.g. Cardiff)

– FBC, U+E, Ferritin, LFTs, gamma GT, Vitamin D level

Treatment

– Dundee total sunblock

– Try antihistamine e.g. fexofenadine 180mg once daily

– Course of ‘rescue’ steroids might be helpful for flares e.g. prednisolone 20mg once daily for a week

– TL01 desensitisation is worth trying in March time

– Beta-carotene not so useful – need 180-200mg/day (comes in 3mg tablets, licensed and 25 or 30mg unlicensed – need importing) and will turn skin orange

– afamelanotide – not NICE approved. ?theoretical increased risk of melanoma

Leaflet

BAD Leaflet on EPP

British Porphyria Association