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What is PNH Disease?
An Overview of Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, life-threatening blood disorder characterized by the destruction of red blood cells (hemolysis), blood clots (thrombosis), and impaired bone marrow function.
Causes of PNH
PNH is caused by a genetic mutation in the PIG-A gene, which leads to a deficiency of a protein called glycosylphosphatidylinositol (GPI).
Symptoms of PNH
Symptoms of PNH can vary depending on the severity of the disease, but common symptoms include:
- Dark urine (hemoglobinuria)
- Fatigue and weakness
- Abdominal pain
- Blood clots in the veins or arteries
- Recurrent infections
Diagnosis of PNH
PNH is diagnosed through a blood test that measures the presence of GPI-deficient red blood cells and other biomarkers.
Treatment of PNH
Treatment for PNH aims to control hemolysis, prevent blood clots, and improve bone marrow function. Treatment options include:
- Eculizumab (Soliris), a monoclonal antibody that blocks the destruction of red blood cells
- Aplastic anemia stem cell transplantation
- Clot prevention medications
- Bone marrow stimulants
Prognosis of PNH
The prognosis of PNH depends on the severity of the disease and the effectiveness of treatment. With proper treatment, many patients with PNH can live full and active lives.
Living with PNH
Living with PNH requires regular monitoring, adherence to treatment, and lifestyle modifications. Patients with PNH should avoid activities that trigger hemolysis and take precautions to prevent blood clots.
Conclusion
PNH is a rare but serious blood disorder that requires specialized treatment. With proper management, patients with PNH can live long and fulfilling lives.
References
- National Center for Biotechnology Information
- UpToDate
- Paroxysmal Nocturnal Hemoglobinuria Foundation