Paroxysmal Nocturnal Haemoglobinuria (PNH)
What is Paroxysmal Nocturnal Haemoglobinuria (PNH)?
Paroxysmal Nocturnal Haemoglobinuria (PNH) is an acquired, life-threatening disorder of the blood characterized by an increased risk to suffer severe blood clots, caused by an increased amount of red blood cell breakdown (haemolysis). This condition is caused by the body's own immune system attacking and destroying healthy red blood cells, which leads to an unusually low number of circulating red blood cells. PNH is a rare disease that is estimated to affect around one in a million people worldwide.
Symptoms of Paroxysmal Nocturnal Haemoglobinuria (PNH)
Symptoms of PNH can range from mild to severe and can vary from person to person. Common symptoms include:
- Frequent and severe clotting of the blood (thrombosis)
- Anemia
- Easy bruising
- Fatigue
- Abdominal pain
- Dark-colored urine (due to the breakdown of red blood cells)
Diagnosis of Paroxysmal Nocturnal Haemoglobinuria (PNH)
In some cases, PNH can be difficult to diagnose, but there are a few tests that doctors can use to identify it. Tests include:
- Flow cytometry: This test looks at the amount of GPI-linked proteins present on the surface of red blood cells by measuring changes in light emission.
- Bone marrow biopsy: This procedure involves taking a tissue sample from the bone marrow and examining it under the microscope to confirm the diagnosis.
- Genetic testing and urine tests: Genetic testing and urine tests can also be used to help confirm the diagnosis of PNH.
Treatment of Paroxysmal Nocturnal Haemoglobinuria (PNH)
Unfortunately, there is no cure for PNH, but the condition can be treated with a combination of medications and therapies. These include:
- Medications: Drugs such as anticoagulants, hormones, and immunosuppressants can be used to reduce the risk of blood clots, reduce the symptoms of anemia, and suppress the immune response that is causing the destruction of red blood cells.
- Blood transfusions: Blood transfusions can be used to replace the lost red blood cells and help stabilize the patient's symptoms.
- Bone marrow or stem cell transplant: This procedure involves transplanting healthy bone marrow or stem cells into the patient to replace the defective red blood cells.
Conclusion
PNH is a rare and potentially fatal condition that should be taken seriously. If you or someone you love is suffering from PNH, it is important to talk to your doctor about the diagnosis and treatment options available. With the right treatment, it is possible to reduce the symptoms and improve the quality of life for those who suffer from this condition.
