Paroxysmal Nocturnal Hemoglobinuria in a Young Adult Woman: A Representative Case of Recurrent Intravascular Hemolysis

TL;DR

A 39-year-old woman with unexplained anemia and dark urine was diagnosed with PNH, a rare blood disorder, and improved with eculizumab treatment.

Contribution

This case emphasizes the importance of diagnosing PNH in Coombs-negative hemolytic anemia and the effectiveness of early complement inhibition.

Findings

PNH diagnosis was confirmed by flow cytometry showing large PNH clones.

Eculizumab therapy resolved hemoglobinuria and improved hemoglobin levels.

Early recognition of PNH is critical to prevent complications like thrombosis.

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal hematopoietic stem cell disorder characterized by complement-mediated intravascular hemolysis, hemoglobinuria, bone marrow failure, and an increased risk of thrombosis. We report the case of a 39-year-old woman with iron-deficiency anemia unresponsive to oral therapy who presented with three weeks of dark urine and progressive fatigue. Physical examination revealed pallor and mild scleral icterus. Laboratory evaluation demonstrated severe intravascular hemolysis with markedly elevated lactate dehydrogenase, indirect hyperbilirubinemia, undetectable haptoglobin, and a negative direct Coombs test. Urinalysis showed a positive dipstick for blood without erythrocytes on microscopy, consistent with pigmenturia. High-sensitivity flow cytometry confirmed large PNH clones across all cell lineages. Eculizumab therapy was initiated, resulting in the resolution of hemoglobinuria and improvement in hemoglobin levels and symptoms. This case highlights the importance of considering PNH in patients with Coombs-negative hemolytic anemia and recurrent dark urine. Early recognition and timely complement inhibition are essential to reducing hemolysis, preventing thrombosis, and optimizing long-term outcomes.

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