Differential Diagnosis

Other causes of the erythropoietic protoporphyria (EPP) phenotype include the following.

Acquired causes

• Polymorphous light eruption

• Solar urticaria

• Drug-induced photosensitivity

Source: GeneReviews — "Erythropoietic Protoporphyria, Autosomal Recessive"

Clinical Guidance

The following are appropriate:

• Avoidance of sunlight and UV light

• In patients with hepatic dysfunction, avoidance of drugs that may induce cholestasis (e.g., estrogens)

• In patients with cholestatic liver failure, use of protective filters for artificial lights in the operating room to prevent phototoxic damage during procedures such as endoscopy and surgery

Source: GeneReviews — "Erythropoietic Protoporphyria, Autosomal Recessive"

Therapies Under Investigation

Phase III clinical trials from the US and Europe with a subcutaneous insertion of a biodegradable, slow-released -melanocyte-stimulating hormone analog, afamelanotide (Scenesse®), which increases pigmentation by increasing melanin, showed increased pain-free sun exposure and improved quality of life in those with EPP [, , , ]. A long-term observational study of 115 individuals receiving Scenesse® for up to eight years showed improved quality of life and high compliance with the drug .

• Scenesse® is currently approved for use in patients with EPP in the European Union.

• In the United States, the drug is pending FDA review.

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.

Source: GeneReviews — "Erythropoietic Protoporphyria, Autosomal Recessive"