Paroxysmal nocturnal haemoglobinuria
Description
- Acquired clonal haematopoietic stem cell disorder: somatic PIGA mutation -> no GPI anchor -> loss of all GPI-anchored surface proteins
- Triad
- Intravascular haemolysis (complement-mediated)
- Thrombosis - at unusual sites
- Marrow failure - overlaps aplastic anaemia
- The name is misleading: haemolysis is continuous, not paroxysmal, and nocturnal haemoglobinuria is seen in a minority
Three clinical categories
| Classical PNH | Florid haemolysis, large clone, cellular marrow |
| PNH in the setting of another marrow failure | Aplastic anaemia or MDS with a PNH clone |
| Subclinical | Small clone, no haemolysis - do not treat |
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