Complete Suppression of the Symptoms of Congenital Erythropoietic Porphyria by Long-Term Treatment with High-Level Transfusions

Abstract

CONGENITAL erythropoietic porphyria is a rare autosomal recessive disorder of heme biosynthesis that is secondary to reduced (10 to 30 percent of normal) uroporphyrinogen cosynthase activity.1 In patients with the disorder, large amounts of porphyrinogens of the isomer I variety accumulate and are converted by spontaneous oxidation into their corresponding photoactive porphyrins. The clinical syndrome includes severe cutaneous photosensitivity and hemolytic anemia, both of which are usually present at birth.2 Porphyrin deposition gives the teeth a fluorescent, red-brown appearance. Exposure of the skin to sunlight results in the formation of subepidermal bullae and deep erosions that heal with unsightly scars; . . .