Paroxysmal Nocturnal Hemoglobinuria: Clinicopathologic Features, Treatment, and Outcomes



 

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematologic disorder with varying patient presentation. The pathophysiology is attributed to a mutation in the PIGA 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.

Originally published on August 6, 2024


Lecture Presenter

Adam Lyle, DO

Adam Lyle, DO

Pathology Resident, PGY 2
University of Utah School of Medicine

Dr. Adam Lyle earned his DO from Touro University California. Previously, he completed a BS in economics at Westminster College and had a career in finance.


Objectives

After this presentation, participants will be able to:

  • 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

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories