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Paroxysmal nocturnal hemoglobinuria PNH

  • Facts:
    Acquired disorder of hematopoietic cells

    Complement mediated hemolysis
  • History / PE:
    Pancytopenia with hemolytic anemia

    Hematuria

    Fatigue, SOB
  • Diagnosis:
    Increased reticulocyte count and LDH

    Decreased haptoglobin levels (INTRAvascular hemolysis)

    Sugar water test

    Flow cytometry

    Negative COOMBs test

    Low leukocyte alkaline phosphatase (LAP)
  • Treatment:
    Supportive
  • Notes:
    PNH is the only hemolytic anemia caused by an acquired (rather than inherited) intrinsic defect in the cell membrane (deficiency of glycophosphatidylinositol leading to absence of protective proteins on the membrane)
  • Associated With:
    Recurrent thrombosis at unusual sites (eg. portal vein thrombosis or Budd-Chiari syndrome )

    Aplastic anemia

    MDS
  • Differential Diagnosis:
    1) Chronic myelogenous leukemia (also low LAP)

    2) Hereditary spherocytosis (AD inheritance/family history, extravascular hemolysis, normal serum haptoglobin)
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