Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal Nocturnal Hemoglobinuria
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Frequently Asked Questions (FAQ) :
The prognosis for PNH has improved significantly with treatments like Eculizumab. With proper management, many patients can live normal or near-normal lives.
No, PNH is not typically inherited. It results from an acquired mutation in the PIGA gene during a person’s lifetime.
A bone marrow transplant is the only potential cure for PNH, but it carries significant risks. Most patients are managed with medication to control symptoms and prevent complications.
PNH is unique due to the specific genetic mutation and the resulting vulnerability of red blood cells to destruction by the immune system.
What is Paroxysmal Nocturnal Hemoglobinuria (PNH)?
Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare, life-threatening blood disorder characterized by the destruction of red blood cells, leading to hemoglobin release into the bloodstream. This condition can cause severe symptoms, complications, and significantly impact a patient’s quality of life.
Causes of Paroxysmal Nocturnal Hemoglobinuria
PNH is caused by a genetic mutation in the PIGA gene in bone marrow stem cells. This mutation leads to the production of abnormal red blood cells that lack certain proteins, making them more vulnerable to destruction by the immune system. The exact cause of this genetic mutation is not well understood.
Types of PNH
PNH can be classified into three main types based on the predominant clinical features:
- Classic PNH: Characterized by hemolysis (destruction of red blood cells) and hemoglobinuria (dark-colored urine).
- PNH in the context of other bone marrow disorders: Occurs alongside conditions like aplastic anemia or myelodysplastic syndromes.
- Subclinical PNH: Detected only by laboratory testing, with minimal or no clinical symptoms.
Symptoms of Paroxysmal Nocturnal Hemoglobinuria
PNH presents with a wide range of symptoms, which may vary in severity:
- Fatigue and weakness
- Dark-colored urine, especially in the morning
- Shortness of breath
- Chest pain
- Abdominal pain
- Blood clots (thrombosis)
- Anemia
- Frequent infections
- Headaches
Diagnosis of Paroxysmal Nocturnal Hemoglobinuria
Diagnosing PNH involves a combination of clinical evaluation and specialized laboratory tests:
- Flow Cytometry: The most definitive test for PNH, which detects the absence of specific proteins on the surface of blood cells.
- Complete Blood Count (CBC): To evaluate the levels of red blood cells, white blood cells, and platelets.
- LDH Test: Measures the level of lactate dehydrogenase, an enzyme released during the breakdown of red blood cells.
- Bone Marrow Examination: To assess bone marrow function and detect related conditions like aplastic anemia.
Treatment Options for Paroxysmal Nocturnal Hemoglobinuria
Dr. Rahul Bhargava offers comprehensive treatment plans for PNH tailored to each patient’s needs. Treatment options include:
- Eculizumab (Soliris): A monoclonal antibody that inhibits the complement system, reducing hemolysis and preventing blood clots.
- Ravulizumab (Ultomiris): A longer-acting alternative to Eculizumab, requiring less frequent dosing.
- Bone Marrow Transplant: The only potential cure for PNH, recommended for patients with severe symptoms or complications.
- Supportive Care: Including blood transfusions, iron supplements, and anticoagulants to manage symptoms and prevent complications.