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Distribution of protoporphyrin IX in erythrocytes in a case of acquired erythropoietic protoporphyria

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Background: Erythropoietic protoporphyria (EPP) is a rare genetic photodermatosis caused by loss-of-function mutations in the gene for ferrochelatase leading to accumulation of the fluorescent protoporphyrin IX (PpIX) in erythrocytes. The mutations are most often inherited mutations present in all cells causing inherited EPP. In very rare cases EPP are acquired in association with myelodysplastic syndromes or myeloproliferative neoplasms, conditions with genetic instability. Case report: We report a case of acquired EPP in association with hematological disease. We followed erythrocyte PpIX concentration over a year and measured PpIX fluorescence in individual erythrocytes in a blood sample from the case using flow cytometry. The major proportion of erythrocytes did not fluoresce (84%), whereas 13% contained low PpIX fluorescence, 1% contained medium fluorescence, and 2% contained high fluorescence. Discussion: Our observation of the very skewed PpIX distribution in erythrocytes supports the description that acquired EPP is caused by a somatic mutation effecting a clone of hematopoietic cells.

Original languageEnglish
Article number102629
JournalPhotodiagnosis and Photodynamic Therapy
Publication statusPublished - Mar 2022

Bibliographical note

Publisher Copyright:
© 2021 The Authors

    Research areas

  • Case report, Erythropoietic protoporphyria, Human, Photosensitivity, Protoporphyrin IX

ID: 75349683