Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP)
EPP and XLP are rare genetic disorders that affect the body's ability to produce heme leading to an excessive buildup of protoporphyrin IX (PPIX), a heme intermediate. PPIX is highly toxic and photoreactive causing liver damage and severe, painful skin reactions upon exposure to sunlight.
With no approved disease-modifying treatments, patients take extreme measures to avoid sunlight. Upon sunlight exposure, patients may experience disabling pain attacks that can last for days and cause chronic skin lesions and scarring. Additionally, many patients experience liver disease, with severe cases requiring transplantation.