Paroxysmal Nocturnal Hemoglobinuria (PNH): The Headache you Don’t Want to Miss

Adam A Shaaeli, BS, Rachel A. Hellmann Whitaker, PhD, Gordon J. Ruan, MD and Tsige H. Gebreslasse, MD

University of Minnesota Medical School, Minnesota, United States of America Regions Hospital, Minnesota, United States of America

^*Correspondance to: Adam A Shaaeli 

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Abstract:

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired, noninherited clonal hematopoietic stem-cell disorder characterized by complement-mediated hemolysis, thrombosis, and variable bone marrow failure. Its presentation is heterogeneous and may lack visible hemoglobinuria. In this case report, we highlight a 38-year-old man who presented with persistent headache, fatigue, dizziness, anorexia, and unintentional weight loss. Examination showed pallor and tachycardia without focal neurologic deficits. Laboratory testing demonstrated profound pancytopenia, macrocytic anemia (hemoglobin 4.3 g/dL; mean corpuscular volume 113.3 fL), elevated lactate dehydrogenase, undetectable haptoglobin, and a negative direct antiglobulin test. Bone marrow biopsy was markedly hypocellular (15%-20%) with less than 5% blasts. Myeloid next-generation sequencing identified five somatic phosphatidylinositol glycan class A (PIGA) variants, and highsensitivity flow cytometry demonstrated a PNH clone. The patient received red-cell transfusion, started ravulizumab as an outpatient, and was referred for allogeneic hematopoietic stem-cell transplantation evaluation. This case highlights that PNH should be considered in unexplained cytopenias with laboratory evidence of hemolysis, even without classic hemoglobinuria, and that diagnosis requires laboratory confirmation.

Keywords:

Headache

Cite the Article:

Shaaeli AA, Hellmann Whitaker RA, Ruan GJ, Gebreslasse TH. Paroxysmal Nocturnal Hemoglobinuria (PNH): The Headache you Don’t Want to Miss. Ann Clin Case Rep. 2026; 11: 2850..