Erythropoietic Protoporphyria (Protoporphyria, Heme synthetase deficiency, Ferrochelatase deficiency, X-linked dominant protoporphyria [XLDPP], Erythrohepatic protoporphyria [no longer used])
Are You Confident of the Diagnosis? What you should be alert for in the history Patients are usually diagnosed with erythropoietic protoporphyria (EPP) in infancy, with the rare exception of acquired EPP associated with certain types of cancers. EPP patients often present with photosensitivity (burning and stinging sensation when exposed to sunlight), weakness, malaise, easy…