Posters
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Medical Student
Academic Level (Author 1)
Medical Student
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Internal Medicine
Academic Level (Author 2)
Medical Student
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Internal Medicine
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Medical Student
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Internal Medicine
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Poster
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Clinical Science
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Research/Clinical
Abstract
Background: Paroxysmal Nocturnal Hemoglobinuria (PNH) and Myelodysplastic Syndrome (MDS) are both hematologic disorders that overlap, posing challenges in diagnosis and management. PNH involves complement-mediated hemolysis and clonal hematopoiesis, while MDS is characterized by ineffective hematopoiesis and cytopenias. Their shared features, such as clonal mutations and bone marrow failure, can complicate differentiation. Flow cytometry is essential for identifying PNH clones and guiding treatment. Understanding this overlap is key to improving outcomes through targeted therapies and advanced management strategies.
Methods: A systematic review of PubMed, Science Direct, and Cochrane was conducted for articles published between 2000 and 2025. Keywords included 'paroxysmal nocturnal hemoglobinuria' OR 'PNH,' 'myelodysplastic syndrome' OR 'MDS,' and 'diagnostic challenges' OR 'management,' which yielded 35 studies. Exclusion criteria included review articles to focus on primary research, which narrowed the results to 20 studies.
Results: This review identified 20 studies addressing the overlap of Paroxysmal Nocturnal Hemoglobinuria (PNH) with Myelodysplastic Syndrome (MDS) and related conditions. George et al. (2015) reported a 58% response rate to immunosuppressive therapy in aplastic anemia, with clonal evolution to PNH in 8 patients. The study emphasized long-term monitoring due to risks of relapse and clonal evolution. Another study found that nonresponse to such therapy emerged as a key predictor for secondary myeloid neoplasms (sMNs) in patients with severe aplastic anemia and PNH. On the other hand, Kwon et al. (2010) observed non-severe aplastic anemia could progress to PNH or MDS through clonal evolution, with thrombocytopenia as the main indicator of disease progression as well as poor response to treatment. Eculizumab and Fondaparinux both effectively manage thrombosis and hemolysis in cases of overlapping PNH and MDS, including one case report of a patient with both PNH and MDS. Eltrombopag effectively restored hematopoiesis in lower-risk MDS patients with PNH clones, with 44% achieving uni- or bi-lineage hematologic responses, and some maintaining durable responses even after discontinuation of treatment. One article noted the use of flow cytometry and how it proved effective in detecting PNH clones in MDS by identifying clones ≥1% in 1.1% of MDS patients thus aiding in diagnosis and management through precise clonal assessment. Lastly, one article notes how severe fatigue and decreased quality of life were emphasized as significant burdens for patients with PNH and MDS, with strategies like energy preservation and physical activity proving helpful. These findings highlight the diagnostic challenges and varied management strategies for patients with overlapping PNH and MDS, emphasizing the significance of early detection and monitoring for clonal evolution.
Conclusions: This review highlights the overlap between PNH and MDS, emphasizing diagnostic challenges, clonal evolution, and treatment strategies. Key findings include the use of flow cytometry for detecting PNH clones, Eltrombopag’s success in restoring hematopoiesis, and targeted therapies like Eculizumab for managing complications. Early detection and monitoring are vital to addressing clonal progression and improving outcomes.
Recommended Citation
Sepulveda, Alyssa L.; Shaju, Ronald A.; and Gutierrez, Yolanda V., "Overlap of PNH with Myelodysplastic Syndrome: Diagnostic Challenges and Management Approaches" (2025). Research Symposium. 5.
https://scholarworks.utrgv.edu/somrs/2025/posters/5
Included in
Overlap of PNH with Myelodysplastic Syndrome: Diagnostic Challenges and Management Approaches
Background: Paroxysmal Nocturnal Hemoglobinuria (PNH) and Myelodysplastic Syndrome (MDS) are both hematologic disorders that overlap, posing challenges in diagnosis and management. PNH involves complement-mediated hemolysis and clonal hematopoiesis, while MDS is characterized by ineffective hematopoiesis and cytopenias. Their shared features, such as clonal mutations and bone marrow failure, can complicate differentiation. Flow cytometry is essential for identifying PNH clones and guiding treatment. Understanding this overlap is key to improving outcomes through targeted therapies and advanced management strategies.
Methods: A systematic review of PubMed, Science Direct, and Cochrane was conducted for articles published between 2000 and 2025. Keywords included 'paroxysmal nocturnal hemoglobinuria' OR 'PNH,' 'myelodysplastic syndrome' OR 'MDS,' and 'diagnostic challenges' OR 'management,' which yielded 35 studies. Exclusion criteria included review articles to focus on primary research, which narrowed the results to 20 studies.
Results: This review identified 20 studies addressing the overlap of Paroxysmal Nocturnal Hemoglobinuria (PNH) with Myelodysplastic Syndrome (MDS) and related conditions. George et al. (2015) reported a 58% response rate to immunosuppressive therapy in aplastic anemia, with clonal evolution to PNH in 8 patients. The study emphasized long-term monitoring due to risks of relapse and clonal evolution. Another study found that nonresponse to such therapy emerged as a key predictor for secondary myeloid neoplasms (sMNs) in patients with severe aplastic anemia and PNH. On the other hand, Kwon et al. (2010) observed non-severe aplastic anemia could progress to PNH or MDS through clonal evolution, with thrombocytopenia as the main indicator of disease progression as well as poor response to treatment. Eculizumab and Fondaparinux both effectively manage thrombosis and hemolysis in cases of overlapping PNH and MDS, including one case report of a patient with both PNH and MDS. Eltrombopag effectively restored hematopoiesis in lower-risk MDS patients with PNH clones, with 44% achieving uni- or bi-lineage hematologic responses, and some maintaining durable responses even after discontinuation of treatment. One article noted the use of flow cytometry and how it proved effective in detecting PNH clones in MDS by identifying clones ≥1% in 1.1% of MDS patients thus aiding in diagnosis and management through precise clonal assessment. Lastly, one article notes how severe fatigue and decreased quality of life were emphasized as significant burdens for patients with PNH and MDS, with strategies like energy preservation and physical activity proving helpful. These findings highlight the diagnostic challenges and varied management strategies for patients with overlapping PNH and MDS, emphasizing the significance of early detection and monitoring for clonal evolution.
Conclusions: This review highlights the overlap between PNH and MDS, emphasizing diagnostic challenges, clonal evolution, and treatment strategies. Key findings include the use of flow cytometry for detecting PNH clones, Eltrombopag’s success in restoring hematopoiesis, and targeted therapies like Eculizumab for managing complications. Early detection and monitoring are vital to addressing clonal progression and improving outcomes.
