Let's talk about this rare blood disease called PNH (Paroxysmal Nocturnal Hemoglobinuria)

There are diseases that are very common among us, as well as diseases that are very rare, that is, very rare. Perhaps you have not even heard of such a disease. Today we are going to talk about such a rare, but important blood-related disease that is important to manage properly. Its name is Paroxysmal Nocturnal Hemoglobinuria, which we call PNH for short.

Simply put, what is PNH?

PNH is not a genetic disorder, but a disease that is inherited or passed down from parents to children. It can develop at any age. Simply put, a person with this disease has a disease in which the immune system , the system that protects us from disease, mistakenly attacks and destroys their own red blood cells. Think of it like a shield made of special proteins that protect us from disease. Some red blood cells in the body of PNH patients do not have this protective shield, that is, those special proteins. So the immune system recognizes these cells without a shield, thinks they are a harmful invader to the body and destroys them. Although this condition can be life-threatening, with the right treatment, you can control the symptoms, minimize complications and live a good life. This disease does not affect everyone in the same way. Some people only have minor discomfort. Others can be affected by it more severely. The main risk is blood clots. About 30% of PNH patients are at risk of developing a blood clot at least once in their lives.

What is the reason for this?

The cause of this disease is a mutation in a gene. But this is not something that is inherited. That means it is not something you get from your parents, nor is it something that you pass on to your children. This is a random genetic change that occurs during life. Due to this gene mutation, your bone marrow starts producing abnormal red blood cells that do not have those protective proteins. So since these cells are not protected by the immune system, they break down easily. In medicine, we call this process of red blood cell breakdown hemolysis . Some doctors believe that PNH is related to a weakness in the bone marrow. In particular, people with a condition called aplastic anemia are more likely to develop PNH. Also, people with PNH can later develop aplastic anemia. In this condition called aplastic anemia, the bone marrow stops producing new blood cells.

What are the symptoms of PNH?

The disease is named after one of its main symptoms. Paroxysmal means "suddenly occurring", Nocturnal means "during the night", and Hemoglobinuria means "excretion of hemoglobin in the urine". Hemoglobin is the protein that gives blood its red color. So, when red blood cells break down, this hemoglobin is released into the urine, and the urine excreted at night or in the morning can be dark (like cola) or red . About 50% of people with PNH experience this symptom. The symptoms are mainly caused by three reasons:

• Red blood cell breakdown.
• Decreased red blood cell count (causing anemia).
• Blood clots in blood vessels .

The more defective blood cells you have in your body, the more symptoms you may experience. If you have the slightest suspicion that you have a blood clot like this,Inform your doctor immediately. Go to the nearest hospital Emergency Department (ETU) without delay, especially if you experience difficulty breathing, difficulty speaking/vision, sudden severe headache, chest pain, or seizures.

How to accurately diagnose the disease?

When you go to see your doctor, he will ask about your symptoms and medical history. Then he will examine you and order some blood tests. The main test that is done for this is a special blood test called flow cytometry . This is what makes sure that your red blood cells have these protective proteins. In addition, your blood cell count (full blood count) and iron levels are also checked. Sometimes a bone marrow sample may also be needed.

What are the treatments for PNH?

There are two main goals of treating PNH. One is to relieve symptoms, and the other is to prevent dangerous complications (especially blood clots). The treatment you receive will depend on the severity of your condition.

• Additional nutrients: Folic acid and iron supplements are given to control anemia.
• Specific medications: There are medications like Eculizumab (Soliris) and Ravulizumab (Ultomiris) that prevent the breakdown of red blood cells. These are given intravenously. They have the advantage of controlling anemia, reducing the need for external blood transfusions, and reducing the risk of blood clots. Pegcetacoplan (Empaveli) is another newer medication used for this purpose.
• Blood Transfusions: If anemia is severe, temporary relief can be obtained by donating blood from a healthy person.
• Blood thinners: Blood thinners are given to people who are at high risk of blood clots.
• Bone Marrow Stem Cell Transplant : This is the only way to completely cure PNH. This involves removing the diseased bone marrow and transplanting stem cells from a healthy person (often a sibling). However, because this is a very risky and complicated procedure, it is usually only recommended for young people with very severe disease.

Your doctor will determine which treatment method is most suitable for you.

It's also very important to take care of yourself.

When living with PNH, it's more important than ever to take care of yourself.

• Good diet: Eat nutritious foods. Eating foods rich in iron (spinach, meat) along with something rich in vitamin C (oranges, tangerines) helps the body absorb iron better.
• Exercise: Fatigue can make it difficult to exercise. Ask your doctor what exercises are right for you.
• Protect yourself from infections : Wash your hands often. Avoid crowded places and places where sick people are. Tell your doctor immediately if you develop a fever.
• Mental health: It's normal to feel sad, angry, and anxious when you learn that you have a rare disease like this. Talking about these feelings with a trusted person or a counselor can be a great relief.
• Pregnancy: If you are a woman who is planning to become pregnant, be sure to consult your doctor before becoming pregnant. PNH can pose risks to you and your baby during pregnancy.

Take-Home Message

• PNH is a rare blood disorder caused by a genetic mutation, but is not inherited.
• The main and most dangerous complication of this disease is blood clots. Always be aware of its warning signs (severe headache, chest pain, difficulty breathing).
• Although this can be life-threatening, there are very effective treatments available today to control symptoms and improve quality of life.
• Although bone marrow transplantation is the only fully curative treatment for PNH, it is high-risk and only suitable for selected patients.
• It is very important to maintain regular contact with your doctor and follow his instructions.

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