A Case of Erythropoietic Protoporphyria Screened by RBC Fluorescence Microscopy / 대한피부과학회지

ABSTRACT

Erythropoietic protoporphyria (EPP), caused by decreased activity of the enzyme ferrochelatase, is characterized clinically by burning photosensitivity beginning from childhood, and chemically by excessive amounts of red blood cell protoporphyrins. 1-10% of EPP patients develop potentially fatal protoporphyric hepatic failure. The diagnosis of EPP had been missed in many cases when traditional solvent extraction qualitative screening test was used for blood porphyrins, and use of fluorescence microscopy improved this problem. We report a case of EPP screened by fluorescence microscopy of erythrocytes in a 50-year-old man complaining of photosensitivity. We recommend fluorescence microscopy could be the screening test of choice for the detection of increased red blood cell porphyrins.