Paroxysmal Nocturnal Hemoglobinuria: Clinicopathologic Features, Treatment, and Outcomes

Course overview

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare hematologic disorder with varying patient presentation. The pathophysiology is attributed to a mutation in the PIG-A gene, causing deficiency in glycosylphosphatidylinositol (GPI)-anchored proteins on blood cells, increasing susceptibility to complement-mediated destruction. Diagnosis involves thorough clinical evaluation and laboratory testing including flow cytometry. Treatment options are varied, evolving, and dependent on disease severity. Patient response to therapy and disease monitoring requires regular lab assessments. Learning Objectives: Explain the background of PNH including history, epidemiology, and pathophysiology; Describe patient presentation, evaluation, and laboratory testing involved in diagnosing PNH; Discuss the classifications, treatment options, outcomes, and monitoring of PNH