Flow cytometry in the diagnosis and monitoring of patients with paroxysmal nocturnal hemoglobinuria

Citometría de flujo en el diagnóstico y monitorización de pacientes con hemoglobinuria paroxística nocturna

Introduction: HPN is a clonal disease of hematopoietic stem cells, characterized by intravascular hemolysis, thrombotic episodes, risk of bone marrow failure, and damage to organs such as the kidney and lung. Mutations in the PIGA gene cause a deficiency of glycosylphosphatidylinositol (GPI)-anchored proteins, increasing cellular susceptibility to complement-mediated lysis. Given its variable clinical presentation, early diagnosis and continuous monitoring with flow cytometry (CF) are crucial for effective management. Objective: To describe the application of CF in the diagnosis and follow-up of patients with HPN, highlighting its usefulness, benefits, and limitations. Methods: A literature review was conducted in databases such as PubMed, Embase, Scopus, Web of Science, and Google Scholar of studies published between January 2000 and July 2024. Studies in humans that describe the use of CF in the diagnosis and monitoring of HPN were included. Results: 40 studies were selected. CF has high sensitivity and specificity (>95%) for detecting GPI-deficient cells using markers such as CD55 and CD59. CF was effective for quantifying clonal burden, monitoring response to anti-C5 treatment, and detecting complications such as thrombosis and myelodysplastic syndromes. Advanced CF techniques allowed for the identification of clones at low levels (<0.1%), facilitating timely clinical interventions. Conclusions: Flow cytometry supports the diagnosis and monitoring of HPN, improving disease management and optimizing treatment.