Paroxysmal Nocturnal Hemoglobinuria (PNH)

Hematology

Overview

Definition

Acquired stem cell defect causing complement-mediated RBC destruction.

Epidemiology

Varies globally depending on genetics, environment, or exposure.

Etiology & Risk Factors

  • Somatic mutation in PIGA gene (absence of CD55/CD59).

Clinical Symptoms

  • Episodic dark morning urine (hemoglobinuria)
  • fatigue
  • venous thrombosis (Budd-Chiari).

Clinical Approach

Diagnosis

  • Flow cytometry (absence of CD55/CD59).

Management

  • Eculizumab (complement inhibitor).

Complications

  • Massive thrombosis
  • Leukemia transformation.