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Abstract Type
Case Report
Abstract
Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematopoietic stem cell disorder characterized by complement-mediated intravascular hemolysis, bone marrow failure, and a heightened risk of thrombosis. Prior to targeted therapies, management of PNH was largely supportive, focusing on transfusions, anticoagulation, and bone marrow transplantation. Thromboembolic events were the leading cause of mortality, accounting for approximately 40-67% of deaths prior to the introduction of complement inhibitors such as eculizumab, a monoclonal antibody targeting terminal complement protein C5. In December 2023, iptacopan, an oral factor B inhibitor that targets the alternative complement pathway, was approved for PNH, offering improved patient compliance and quality of life due to its oral administration. This case series aims to illustrate the evolution of PNH treatment strategies by presenting two patients, one who underwent sequential therapies including eculizumab, and another who began treatment directly with iptacopan. We aim to compare treatment regimens by presenting two patients managed with different therapeutic sequences, highlighting how evolving therapies influence clinical outcomes in PNH.
Case 1: A 45-year-old Hispanic female presented with oral bleeding and fatigue. She previously suffered a thrombotic stroke resulting in right-sided hemiparesis in 2013. She was initially diagnosed with myelodysplastic syndrome (MDS) and treated with thalidomide without improvement. Thereafter, she experienced persistent pancytopenia until 2015, when erythropoietin therapy led to a temporary resolution of transfusion dependence. In 2017, she reported fatigue, sleep disturbances, and dark urine. She began eculizumab (Soliris) to manage complement-mediated hemolysis and reduce thrombotic risk, later transitioning to ravulizumab (Ultomiris) in 2019 for less frequent dosing. By 2020, persistently elevated endogenous erythropoietin levels led to the discontinuation of Aranesp (darbepoetin alfa). Prednisone was initiated for pancytopenia, resulting in platelet and hematocrit improvement. In January 2024, she transitioned to iptocopan, which rapidly normalized her lactate dehydrogenase (LDH) and hemoglobin levels. Her dose was gradually tapered from 20mg to 10 mg daily. However, six to eight weeks after dose reduction, she developed diffuse pruritus. This coincided with tapering of prednisone, raising concern for a potential link between itching and iptacopan dose adjustments.
Case 2: A 38-year-old Hispanic female with chronic anemia since childhood presented with worsening fatigue, shortness of breath, and jaundice. Labs revealed pancytopenia with hemolytic features, including elevated LDH, total bilirubin, and reticulocyte count, with low haptoglobin. Flow cytometry confirmed PNH. She was transfused, started on prophylactic antibiotics and vitamin B12, and began iptacopan as first-line therapy. After six months of use the patient’s laboratory markers remained stable.
Discussion: These cases demonstrate differing approaches in PNH treatment. Case 1 highlights sequential therapy and the diagnostic complexity involving MDS overlap. Her steroid responsiveness and lack of MDS-defining mutations supported a PNH-dominant picture. Case 2 illustrates the successful early use of iptacopan. This case series underscores the evolving treatment landscape in PNH and the importance of individualized care strategies.
Presentation Type
Poster
Recommended Citation
Sepulveda, Alyssa L.; Shaju, Ronald; Gutierrez, Yolanda; Arias Reyes, Francisco; and Hernandez, Daniela, "Treatment Evolution in Paroxysmal Nocturnal Hemoglobinuria: A Case Series of Sequential Treatment Versus Early Iptacopan Use" (2025). Research Colloquium. 6.
https://scholarworks.utrgv.edu/colloquium/2025/posters/6
Included in
Treatment Evolution in Paroxysmal Nocturnal Hemoglobinuria: A Case Series of Sequential Treatment Versus Early Iptacopan Use
Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematopoietic stem cell disorder characterized by complement-mediated intravascular hemolysis, bone marrow failure, and a heightened risk of thrombosis. Prior to targeted therapies, management of PNH was largely supportive, focusing on transfusions, anticoagulation, and bone marrow transplantation. Thromboembolic events were the leading cause of mortality, accounting for approximately 40-67% of deaths prior to the introduction of complement inhibitors such as eculizumab, a monoclonal antibody targeting terminal complement protein C5. In December 2023, iptacopan, an oral factor B inhibitor that targets the alternative complement pathway, was approved for PNH, offering improved patient compliance and quality of life due to its oral administration. This case series aims to illustrate the evolution of PNH treatment strategies by presenting two patients, one who underwent sequential therapies including eculizumab, and another who began treatment directly with iptacopan. We aim to compare treatment regimens by presenting two patients managed with different therapeutic sequences, highlighting how evolving therapies influence clinical outcomes in PNH.
Case 1: A 45-year-old Hispanic female presented with oral bleeding and fatigue. She previously suffered a thrombotic stroke resulting in right-sided hemiparesis in 2013. She was initially diagnosed with myelodysplastic syndrome (MDS) and treated with thalidomide without improvement. Thereafter, she experienced persistent pancytopenia until 2015, when erythropoietin therapy led to a temporary resolution of transfusion dependence. In 2017, she reported fatigue, sleep disturbances, and dark urine. She began eculizumab (Soliris) to manage complement-mediated hemolysis and reduce thrombotic risk, later transitioning to ravulizumab (Ultomiris) in 2019 for less frequent dosing. By 2020, persistently elevated endogenous erythropoietin levels led to the discontinuation of Aranesp (darbepoetin alfa). Prednisone was initiated for pancytopenia, resulting in platelet and hematocrit improvement. In January 2024, she transitioned to iptocopan, which rapidly normalized her lactate dehydrogenase (LDH) and hemoglobin levels. Her dose was gradually tapered from 20mg to 10 mg daily. However, six to eight weeks after dose reduction, she developed diffuse pruritus. This coincided with tapering of prednisone, raising concern for a potential link between itching and iptacopan dose adjustments.
Case 2: A 38-year-old Hispanic female with chronic anemia since childhood presented with worsening fatigue, shortness of breath, and jaundice. Labs revealed pancytopenia with hemolytic features, including elevated LDH, total bilirubin, and reticulocyte count, with low haptoglobin. Flow cytometry confirmed PNH. She was transfused, started on prophylactic antibiotics and vitamin B12, and began iptacopan as first-line therapy. After six months of use the patient’s laboratory markers remained stable.
Discussion: These cases demonstrate differing approaches in PNH treatment. Case 1 highlights sequential therapy and the diagnostic complexity involving MDS overlap. Her steroid responsiveness and lack of MDS-defining mutations supported a PNH-dominant picture. Case 2 illustrates the successful early use of iptacopan. This case series underscores the evolving treatment landscape in PNH and the importance of individualized care strategies.
