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 - Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
PY - 2022/3
Y1 - 2022/3
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 - Erythrocytes
KW - Ferrochelatase/genetics
KW - Humans
KW - Photochemotherapy/methods
KW - Protoporphyria, Erythropoietic/genetics
KW - Protoporphyrins/metabolism
UR - http://www.scopus.com/inward/record.url?scp=85120033131&partnerID=8YFLogxK
U2 - 10.1016/j.pdpdt.2021.102629
DO - 10.1016/j.pdpdt.2021.102629
M3 - Journal article
C2 - 34798346
SN - 1572-1000
VL - 37
SP - 102629
JO - Photodiagnosis and Photodynamic Therapy
JF - Photodiagnosis and Photodynamic Therapy
M1 - 102629
ER -