TY - JOUR

T1 - Distribution of protoporphyrin IX in erythrocytes in a case of acquired erythropoietic protoporphyria

AU - Heerfordt, Ida M.

AU - Fontenete, Silvia

AU - Lerche, Catharina M.

AU - Wulf, Hans Christian

N1 - Funding Information: This work was supported by the Alfred Benzon Foundation , Denmark. The funding source had no role in the study design, analyses, or decision to submit results. Publisher Copyright: © 2021 The Authors

PY - 2022

Y1 - 2022

N2 - 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.

AB - 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.

KW - Case report

KW - Erythropoietic protoporphyria

KW - Human

KW - Photosensitivity

KW - Protoporphyrin IX

U2 - 10.1016/j.pdpdt.2021.102629

DO - 10.1016/j.pdpdt.2021.102629

M3 - Journal article

C2 - 34798346

AN - SCOPUS:85120033131

VL - 37

JO - Photodiagnosis and Photodynamic Therapy

JF - Photodiagnosis and Photodynamic Therapy

SN - 1572-1000

M1 - 102629

ER -