Orphanet journal of rare diseases · 2024
Diagnostic landscape of first-time cytometric screening for paroxysmal nocturnal hemoglobinuria in Poland in 2013-2022.
СтатьяНазвание и аннотация: Перевод в очереди
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Spychalska Justyna, Duńska Magdalena, Myślińska Anna, Majewska-Wierzbicka Monika, Klimczak-Jajor Edyta, Głodkowska-Mrówka Eliza
Аннотация
BACKGROUND: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematopoietic stem cell disorder characterized by PIG-A mutations, leading to glycophosphatidylinositol (GPI)-anchored proteins deficiency that triggers hemolysis - a hallmark of the disease. PNH diagnostics is based on high-sensitivity multicolor flow cytometry (MFC), enabling to detect even small populations of PNH cells. In this single-center, retrospective study, we aimed to characterize a cohort of PNH clone-positive patients first time screened from January 1st, 2013 until December 31st, 2022 with MFC according to International Clinical Cytometry Society PNH Consensus Guidelines.
RESULTS: Out of 2790 first-time screened individuals, the presence of PNH clone in neutrophils was detected in 322 patients, including 49 children and 273 adults. Annual incidence was stable at a median of 31 patients (14 and 19 with clone sizes ≤ 1% and > 1%, respectively), with a decline in number of patients with clone sizes > 1% observed in 2020, potentially influenced by the COVID-19 pandemic. The most common screening indications were aplastic anemia and other cytopenias.
CONCLUSIONS: A significant underrepresentation of hemolytic patients was observed as compared to the published cohorts suggesting that these patients are missed in diagnostic process and classic PNH remains underdiagnosed in Poland.
RESULTS: Out of 2790 first-time screened individuals, the presence of PNH clone in neutrophils was detected in 322 patients, including 49 children and 273 adults. Annual incidence was stable at a median of 31 patients (14 and 19 with clone sizes ≤ 1% and > 1%, respectively), with a decline in number of patients with clone sizes > 1% observed in 2020, potentially influenced by the COVID-19 pandemic. The most common screening indications were aplastic anemia and other cytopenias.
CONCLUSIONS: A significant underrepresentation of hemolytic patients was observed as compared to the published cohorts suggesting that these patients are missed in diagnostic process and classic PNH remains underdiagnosed in Poland.