The blood that flows through our veins is like a life-giving river, isn't it? The red blood cells in this blood carry the oxygen needed by every cell in our body. So imagine what would happen if these very important red blood cells suddenly broke down and were destroyed for no apparent reason? It's actually a bit scary. Today we're going to talk about a very rare, but very important, blood disease that we all need to be aware of. This is called Paroxysmal Nocturnal Hemoglobinuria, or
PNH for short.
Simply put, what is PNH?
PNH is a very rare blood disease. In this case
, the red blood cells in our blood are destroyed for no reason. To be precise, our own
immune system destroys these red blood cells. This is because the red blood cells of people with this disease lack a special type of protein that protects them. Therefore, our body's immune system cannot recognize them as 'our own cells'. When red blood cells are destroyed rapidly in this way, our bone marrow cannot make new red blood cells at the same speed. Then the blood in the body decreases. We call this condition
anemia . Also, another dangerous aspect of this disease is
that it increases the risk of blood clots inside the blood vessels. PNH disease does not affect everyone in the same way. Some people have very mild symptoms. They can live a normal life. But for some, the disease can be a little more severe. They may need to continue taking medication and blood transfusions.
What causes PNH disease?
The most important thing here is that PNH is
not a congenital disease. That means it is not passed from mother to child. And it is not a contagious disease. It is actually a very rare disease. Imagine, in a country like America, when about 1.8 million new cancer patients are diagnosed every year, only 400 to 500 PNH patients are diagnosed. This disease is caused by a mutation in a gene called `PIGA` in the stem cells in our bone marrow. Simply put, there is a small error in the 'instructions' received by the bone marrow, which is the factory that makes red blood cells. Due to this error, the red blood cells that are being formed do not get that protective protein coating.
Doctors still can't figure out exactly why this `PIGA` gene suddenly changes, or why only some people develop these abnormal red blood cells .
Do you also have these symptoms?
When red blood cells break down, the red pigment called hemoglobin inside them is released into the blood. These waste products are removed from the body through the kidneys in the urine. Therefore, the color of the urine may appear
red, brown, or darker than normal . However, not everyone with PNH has a different color of urine. Only half of patients experience this symptom. And it is especially dark in the urine that is passed at night or when they first get up in the morning. In addition to this main symptom, there may be several other symptoms. Let's see what they are.
| Symptom | Simple explanation |
|---|
| Frequent fatigue | Because there are fewer red blood cells that carry oxygen to the body, you feel very tired even after doing a little work. Your body feels lifeless. |
| Shortness of breath | You feel dizzy when you walk a little or climb a flight of stairs. The reason for this is that your body is not getting the amount of oxygen it needs. |
| Easy bruising and bleeding | Just blue spots appear on the body. Even a small wound takes time to stop bleeding. |
| Frequent headaches | Headaches can be caused, especially due to changes in the blood. |
| Blood clot (Thrombosis) | This is the most dangerous complication. Blood clots can form in the veins of the legs, stomach, or brain. |
| Red dots under the skin | Small red dots that appear on the surface of the skin may be caused by small hemorrhages under the skin. |
| Sexual dysfunction in men | In severe cases of the disease, men may have difficulty ejaculating due to the effects on blood circulation. |
Who is most likely to get this disease?
According to doctors, the risk of developing PNH is slightly higher for some people.
- For those with weak bone marrow : If for some reason the function of the bone marrow is weakened.
- For those with a disease called Aplastic Anemia : This is also a disease that affects the bone marrow. People with this disease are at risk of developing PNH later.
- For people of Asian descent: This disease is more common in Asians than in other ethnic groups.
PNH is usually diagnosed in
adults in their 30s , but it can also occur in younger people, including young children and infants.
How to diagnose the disease?
Because PNH is a rare disease and
its symptoms are similar to those of other diseases, it can sometimes take a while to diagnose the disease. Especially in someone whose urine color does not change, if a doctor does not suspect this, the diagnosis can be delayed. To diagnose the disease, your doctor will first ask you about your symptoms and your medical history. Then, he or she will order various blood tests. Of these,
the best and most accurate test to confirm PNH is a special blood test called `Flow Cytometry`. This test can measure exactly how many red blood cells are missing that protective protein in your blood.
What are the treatments for PNH?
Fortunately, there are now several effective treatments for managing PNH. Your doctor will assess your condition and determine the treatment that is best for you.
- Immune system suppressors: Drugs like eculizumab (Soliris) and ravulizumab ( Ultomiris ) work by stopping our immune system from destroying red blood cells. These also reduce the risk of blood clots.
- Steroids: These are sometimes used to control the destruction of red blood cells.
- Blood thinners: These are given to reduce the risk of blood clots.
- Blood transfusions: When the body's blood count is too low, blood is given externally to increase the number of red blood cells.
In addition, there are treatments that help the body produce more red blood cells internally.
- Vitamins like folic acid
- Human growth factor
- Androgen, the male hormone
A bone marrow transplant can completely cure PNH. However, because it is a very risky and complex surgery, doctors only recommend it if all other treatments have failed.
Take-Home Message
- PNH is not a congenital or contagious disease. It is a very rare blood disorder caused by a change in a gene in the bone marrow.
- The main symptoms are dark urine due to the breakdown of red blood cells, extreme fatigue, shortness of breath , and the risk of blood clots.
- If you continue to have these symptoms, don't panic and see a qualified doctor as soon as possible. Especially tell your doctor about this.
- The disease can be accurately diagnosed with a special blood test called
Flow Cytometry . - There are now very effective treatments to manage the disease and prevent complications, so it is very important to follow proper medical advice.
PNH Sinhala, Paroxysmal nocturnal hemoglobinuria, blood diseases, red blood cell breakdown, dark urine, bone marrow diseases, anemia
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