Skip to main content

Erythropoietic Protoporphyria

Meaning

Erythropoietic Protoporphyria (EPP) is a rare, inherited metabolic disorder classified within the group of porphyrias, characterized by a significant deficiency in the enzyme ferrochelatase, which is the final enzyme in the heme biosynthesis pathway. This enzymatic defect leads to the pathological accumulation of excessive amounts of protoporphyrin in the red blood cells, plasma, and subsequently within the cutaneous microvasculature. Clinically, the cardinal feature is severe, often painful, non-blistering photosensitivity that manifests immediately upon exposure to visible light, leading to burning, swelling, and chronic skin changes.