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Erythrocyte Fluorescence in Relatives of Patients With Erythropoietic Protoporphyria

Kirk D. Wuepper, MD; John H. Epstein, MD
JAMA. 1967;200(1):70-72. doi:10.1001/jama.1967.03120140128032.
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IN 1953, Kosenow and Treibs1 described a new inborn error of porphyrin metabolism which Magnus et al2 later termed erythropoietic protoporphyria (EPP). Porter provided evidence that EPP was due to overproduction of protoporphyrin IX in the bone marrow.3 Erythrocyte and fecal protoporphyrins and, at times, coproporphyrins are increased, but urinary porphyrins are normal in affected individuals.1 Erythrocytes1,4,5 and their precursors6,7 have been observed to fluoresce in some cases but not in others.8 A dominant form of inheritance has been suggested by several authors.6,9-12 Asymptomatic relatives with "latent" EPP have been previously identified by slightly increased red blood cell (RBC) protoporphyrin concentrations.6,13,14 We now report increased numbers of red-fluorescing erythrocytes with normal RBC protoporphyrin concentrations in four asymptomatic relatives of two patients with EPP. In addition, a sibling of one of the patients was found to have elevated RBC protoporphyrin levels and


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