Rare Blood Disorder PNH: Symptoms, Causes, and Treatments
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disorder that poses significant health risks. Characterized by the breakdown of red blood cells, PNH can lead to serious complications, including blood clots and even leukemia. The primary symptom, discolored urine, often signals the onset of this condition.
PNH occurs due to mutations in hematopoietic stem cells, leading to the loss of the PIGA gene. This gene is responsible for producing a protective protein layer on red blood cells. Without it, the immune system mistakenly identifies and destroys these cells, causing them to break down prematurely.
Symptoms of PNH can range from mild to severe. They may include discolored urine, anemia, fatigue, shortness of breath, abdominal pain, and blood clots. These clots can lead to life-threatening conditions like stroke. Diagnosis typically involves a flow cytometry analysis of red blood cells.
Eculizumab, a biologic drug manufactured by Alexion Pharmaceuticals, has been clinically proven to treat PNH. Studies like TRIUMPH and SHEPHERD have demonstrated its efficacy in reducing hemolysis and improving quality of life for patients.
PNH is a serious, yet rare disorder that can have severe consequences if left untreated. Early diagnosis and proper management, including the use of drugs like eculizumab, are crucial for mitigating its risks and improving patient outcomes. Despite its seriousness, PNH is not inherited and has no known risk factors.
