About Paroxysmal Nocturnal Hemoglobinuria

What is Paroxysmal Nocturnal Hemoglobinuria?

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, life-threatening blood disorder characterized by the destruction of red blood cells (hemolysis). It is caused by a genetic mutation that affects the production of a protein called CD59, which is found on the surface of red blood cells. Without CD59, red blood cells are more susceptible to destruction by the body's own immune system. Symptoms of PNH include anemia, fatigue, abdominal pain, and blood clots. Treatment typically involves medications to reduce the destruction of red blood cells and to prevent blood clots.

What are the symptoms of Paroxysmal Nocturnal Hemoglobinuria?

The most common symptoms of Paroxysmal Nocturnal Hemoglobinuria (PNH) include:

-Fatigue
-Shortness of breath
-Abdominal pain
-Easy bruising or bleeding
-Dark urine
-Pallor
-Anemia
-Enlarged spleen
-Blood clots
-Jaundice
-Nosebleeds
-Fever
-Night sweats
-Weight loss

What are the causes of Paroxysmal Nocturnal Hemoglobinuria?

The exact cause of Paroxysmal Nocturnal Hemoglobinuria (PNH) is unknown. It is believed to be caused by a genetic mutation that affects the production of a protein called CD59, which is responsible for protecting red blood cells from being destroyed by the body's own immune system. This mutation is thought to be acquired, rather than inherited, and is believed to be triggered by an environmental factor, such as a viral infection.

What are the treatments for Paroxysmal Nocturnal Hemoglobinuria?

1. Eculizumab: This is a monoclonal antibody that works by blocking the complement system, which is a part of the immune system that can cause destruction of red blood cells.

2. Ruxolitinib: This is a drug that works by blocking the action of certain proteins that can cause destruction of red blood cells.

3. Iron chelation therapy: This is a treatment that works by removing excess iron from the body, which can help reduce the destruction of red blood cells.

4. Blood transfusions: This is a treatment that involves replacing the destroyed red blood cells with healthy ones.

5. Bone marrow transplant: This is a treatment that involves replacing the damaged bone marrow with healthy bone marrow.

What are the risk factors for Paroxysmal Nocturnal Hemoglobinuria?

1. Inherited genetic mutation: Paroxysmal nocturnal hemoglobinuria is caused by a genetic mutation that is inherited from a parent.

2. Age: PNH is more common in adults than in children.

3. Gender: PNH is more common in males than in females.

4. Blood disorders: People with other blood disorders, such as aplastic anemia, are at an increased risk of developing PNH.

5. Immune system disorders: People with weakened immune systems, such as those with HIV/AIDS, are at an increased risk of developing PNH.

Is there a cure/medications for Paroxysmal Nocturnal Hemoglobinuria?

Yes, there are medications available to treat Paroxysmal Nocturnal Hemoglobinuria (PNH). The most commonly used medications are eculizumab (Soliris) and ravulizumab (Ultomiris). These medications work by blocking the action of a protein called C5, which is involved in the destruction of red blood cells in PNH. Other medications, such as anticoagulants, may also be used to reduce the risk of blood clots associated with PNH.