Paroxysmal Nocturnal Hemoglobinuria (PNH) Treatment in India

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare and serious acquired blood disorder characterized by the destruction of red blood cells (hemolysis) due to a defect in the surface proteins of these cells. The disease is caused by a mutation in a gene called PIGA in hematopoietic stem cells in the bone marrow. This mutation leads to a deficiency in the glycosylphosphatidylinositol (GPI) anchor, which is essential for attaching protective proteins to the surface of red blood cells. Without these protective proteins, the cells are more vulnerable to destruction by the immune system, particularly by complement activation, which is part of the body’s innate immune response.

PNH is often associated with hemolytic anemia, thrombosis, and bone marrow failure. It can lead to significant complications, including renal failure, stroke, and chronic fatigue. Although the name "nocturnal" is part of the condition, hemolysis can occur at any time of day, but it is often more pronounced during the night, contributing to the name.

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:

1. Classic PNH: Characterized by hemolysis (destruction of red blood cells) and hemoglobinuria (dark-colored urine).
2. PNH in the context of other bone marrow disorders: Occurs alongside conditions like aplastic anemia or myelodysplastic syndromes.
3. 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.

Cost of Treatment and Stay in India

The cost of treating Paroxysmal Nocturnal Hemoglobinuria (PNH) in India is relatively affordable compared to many Western countries, providing high-quality care at a fraction of the cost. The total cost of treatment, including hospital stay, can vary based on the type of treatment and the duration of care. Here’s an overview of the costs:

• Eculizumab (Soliris) Treatment (per dose):
  USD: $10,000 – $20,000
  INR: ₹7,50,000 – ₹15,00,000

• Ravulizumab (Ultomiris) Treatment (per dose):
  USD: $6,000 – $12,000
  INR: ₹4,50,000 – ₹9,00,000

• Bone Marrow Transplant (Stem Cell Transplant):
  USD: $20,000 – $40,000
  INR: ₹15,00,000 – ₹30,00,000

• Hospital Stay (per night):
  USD: $50 – $300
  INR: ₹3,700 – ₹22,200 per night

India offers affordable yet high-quality healthcare services for managing Paroxysmal Nocturnal Hemoglobinuria, making it a popular destination for medical treatment. The costs are significantly lower than in Western countries, while still maintaining top-notch treatment and facilities.