Iptacopan combined with immunosuppressive therapy for aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome: A case report.
Xiaoqian Liu, Jie Xu, Yaqin Luo et al.
✦ AI-curated · Sources linked
Case in brief
A previously healthy 24-year-old man presented with dizziness, fatigue, and pancytopenia. Bone marrow examination supported aplastic anemia, with a PNH clone also identified. After cyclosporine was discontinued, he developed acute hemolysis; repeat marrow assessment and flow cytometry showed partial CD55/CD59 deficiency and more than 90% FLAER-negative granulocytes and monocytes, supporting AA-PNH syndrome. Iptacopan rapidly controlled hemolysis, but marrow hypoplasia left him transfusion-dependent. With iptacopan continued alongside immunosuppressive therapy, his blood counts and hemoglobin recovered, and transfusions were no longer needed.
What made this case unusual
The case illustrates two distinct treatment targets in AA-PNH syndrome: iptacopan controlled hemolysis, while immunosuppressive therapy addressed persistent marrow failure and transfusion dependence.
Diagnostic / clinical pearl
In a patient with aplastic anemia who develops recurrent hemolysis, reassess for PNH with flow cytometry; persistent transfusion dependence may reflect marrow failure even after hemolysis is controlled.