A rare and serious blood disorder, Paroxysmal Nocturnal Hemoglobinuria (PNH) causes red blood cells to be destroyed, resulting in anemia and other complications. To effectively manage this condition, it is essential to understand its causes, symptoms, diagnosis, treatment, and prevention.
PNH is caused by a mutation in the PIGA gene, which results in defective blood cells that are susceptible to immune destruction.
In PNH, the body's immune system mistakenly attacks and destroys healthy red blood cells, resulting in hemolysis (red blood cell breakdown).
The development of PNH may be secondary to other conditions such as aplastic anemia or bone marrow disorders.
Low red blood cell count causes fatigue, weakness, and shortness of breath.
The presence of hemoglobin from broken down red blood cells results in dark-colored urine, especially in the morning.
Thrombosis: Blood clots can form in various parts of the body, resulting in complications such as stroke, deep vein thrombosis, or pulmonary embolism.
Pain in the abdomen caused by abdominal vein thrombosis or liver enlargement.
The severity of hemolysis can be assessed using laboratory tests such as a complete blood count (CBC), flow cytometry, and Ham's test.
Performing a bone marrow biopsy can confirm the diagnosis of PNH and evaluate the bone marrow for abnormalities.
In order to diagnose thrombosis or other complications associated with PNH, imaging tests such as ultrasound or MRI may be performed.
Anemia may be treated with transfusions of packed red blood cells to alleviate symptoms and improve overall health.
In patients with PNH, eculizumab (Soliris) inhibits the complement system, reducing hemolysis and thrombosis risks.
Treatment may also include medications to prevent blood clots, antibiotics to prevent infections, and supportive measures to manage symptoms like fatigue and pain.
In severe cases of PNH, bone marrow transplantation may be considered to replace defective stem cells with healthy ones.
Individuals with a family history of PNH or known risk factors may benefit from genetic counseling to understand their risk and make informed decisions.
The prevention of exacerbations of PNH can be achieved by avoiding certain triggers such as infections and certain medications.
