Paroxysmal nocturnal haemoglobinuria

Paroxysmal nocturnal haemoglobinuria is a rare disease in which erythrocytes lack glycosylphosphatidylinositol (GPI) which leaves them susceptible to complement-mediated haemolysis. 

Features of paroxysmal nocturnal haemoglobinuria include: 
  • Dark urine in the morning 
  • Haemolytic anaemia 
  • Thrombosis 
    • mainly venous 
    • can occur anywhere but classically affect the hepatic veins causing abdominal pain 
  • Pancytopenia 

The lack of GPI is caused by a mutation of the PIG-A gene. 

  • Bloods – anaemia, raised reticulocyte count, raised LDH 
  • Flow cytometry - CD55 and CD59
  • Ham test (now largely replaced by flow cytometry) 

  • Allogeneic haematopoietic stem cell transplantation – curative if match available
  • transfusions 
  • Eculizumab 
    • monoclonal antibody against C5 
    • decreases haemolysis and need for transfusions 
    • increased risk of neisserial infections therefore patients need vaccination against neisseria meningitides

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