Paroxysmal nocturnal hemoglobinuria (PNH)
Key points
- Paroxysmal nocturnal hemoglobinuria is a rare, acquired disorder of red blood cells in which an abnormal cell surface molecule leads to premature destruction of the cells.
- PNH is caused by a defect in the formation of a red cell surface protein anchor, called GP1.
- Steroids may be effective in suppressing hemolysis.
- The outcome is variable, with most people surviving approximately 10 years following diagnosis.
Alternative names
PNH
Definition
Paroxysmal nocturnal hemoglobinuria is a rare, acquired disorder of red blood cells in which an abnormal cell surface molecule leads to premature destruction of the cells. This destruction is intermittent (paroxysmal).
Causes, incidence, and risk factors
PNH is caused by a defect in the formation of a red cell surface protein anchor, called GP1. As a result of the lack of this surface protein anchor, a number of surface proteins are unable to remain tethered to the cell surface. This includes the protein CD55, or Decay Accelerating Factor (DAF).
The result of the loss of these cell surface proteins is an enhanced sensitivity to complement-mediated cell destruction. (Complement is a substance produced by the immune system.) The disease can affect people of any age.
Red blood cell, white blood cell, and platelet counts may be low. Urine may be intermittently red or brown, signifying the breakdown of red blood cells with release of hemoglobin into the circulation and then the urine.
Blood clots may form in some people. The disease may arise in relation to aplastic anemia, and may progress to acute myelogenous leukemia. Risk factors, except for prior aplastic anemia, are not known.
Symptoms
- intermittent dark urine
- Abdominal pain
- back pain
- headache
- Shortness of breath
- easy bruising or bleeding in the skin
Signs and tests
- CBC may show low white blood cell count, red blood cell count, and platelets
- sucrose hemolysis test is positive
- Ham's (acid hemolysin) test is positive
- Flow cytometry
- urinalysis shows hemosiderin and hemoglobin
- serum hemoglobin results may be altered
Treatment
Steroids may be effective in suppressing hemolysis. Blood transfusions may be required. Anticoagulation therapy may also be required to prevent clot formation.
Written and revised by
David Cohen, M.D.
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