Do you always feel tired and exhausted for no reason? Do you have bruises all over your body? Do you feel a slight heaviness or a feeling of fullness on the left side of your stomach? There may be a serious reason behind these things that we don't think about. That is a condition called myelofibrosis. Don't be scared when you hear this name. We will talk about what it is, why it occurs, what are the symptoms, and what are the treatments in a very simple way that you can understand.
Simply put, what is myelofibrosis?
Think of the large bones inside our bodies as blood-making factories. We call these factories bone marrow . It is within this bone marrow that all three types of blood cells that are essential to our bodies are produced.
1. Red Blood Cells: Carry oxygen throughout the body.
2. White Blood Cells: Fights diseases and germs.
3. Platelets: They help to clot blood and stop bleeding.
Myelofibrosis is a rare type of blood cancer in which the bone marrow, the blood-making factory, gradually becomes filled with scar tissue. Just like weeds gradually take over a fertile field, this scar tissue prevents the bone marrow from making blood cells normally.
Because this job is not done properly, our spleen , which is the organ on the upper left side of the abdomen, tries to help with this job. That is, the spleen starts making blood. But that is not its main job. Because of this, the spleen becomes overloaded, and it gradually starts to get bigger and swell. Many patients develop symptoms with this swelling of the spleen.
This is usually a lifelong disease, often progressing very slowly. However, sometimes it can get worse quickly, and in some people it can progress to acute leukemia. That's why your doctor will monitor you closely after you're diagnosed.
Are there main types of myelofibrosis?
Yes, there are two main types of this.
- Primary Myelofibrosis: This is the most common type. It occurs spontaneously, without the influence of any other disease.
- Secondary Myelofibrosis: This occurs when another blood disorder becomes severe. For example, someone with Essential Thrombocythemia or Polycythemia Vera may develop myelofibrosis over time. All of these diseases belong to a group of blood cancers called Myeloproliferative Neoplasms (MPNs). Simply put, all of these diseases cause the bone marrow to produce more of one or more types of blood cells than it should.
What are the symptoms of this disease? How do we know?
Most of the time, this disease develops very slowly. Therefore, it can go on for years without showing any symptoms. When symptoms begin to appear, the first thing that comes to mind is extreme fatigue . This is due to a lack of red blood cells in the body, which is anemia. Along with this, due to an enlarged spleen, you may feel a heaviness, pain, or a feeling of fullness in the upper left part of the abdomen.
Let's see what other symptoms are in the table below.
| Symptom | A simple explanation |
|---|---|
| Bone and joint pain | Pain originating from within the bones due to changes in the bone marrow. |
| Easy bruising or bleeding | Due to a decrease in platelets, even a small bump can cause bruising and bleeding. |
| Enlarged Liver | Like the spleen, the liver can swell as it tries to make blood. |
| Fever | Feeling hot for no reason. |
| Frequent infections | Diseases spread easily because the body's white blood cells, which act as its body's defense cells, are reduced. |
| Feeling full even after eating a little | Because the spleen is swollen and the stomach is distended, even after eating a little rice, the stomach feels full. |
| Itchy skin | There may be intense itching all over the body. |
| Excessive sweating at night | Sweating so much at night that the sheets get wet. |
| Weight loss for no reason | If you lose weight without trying. |
Why does this happen? What are the reasons?
Doctors still don't know the exact cause of primary myelofibrosis, but they do have a good understanding of how it happens.
It starts with a mutation in a gene in the stem cell, the first blood-forming cell in the bone marrow . The cell with the faulty gene becomes a cancer cell, dividing rapidly and making copies of itself. These cancer cells fill the entire bone marrow.
These bad cells don't just sit there. The chemicals they release damage the bone marrow and scar tissue begins to form. This is called fibrosis.
Doctors have found that many people with the disease have several common mutations in their genes. The most important of these are:
- JAK2 (JACK-TWO)
- CALR (Cal-R)
- MPL
These genetic mutations are what cause this disorder in the bone marrow.
Who is at higher risk of developing this disease?
Although anyone can develop this disease, some people are at higher risk.
- Over 60 years of age: This disease is most often diagnosed among older people.
- Having other blood diseases: For those who have diseases like `Essential Thrombocytosis` or `Polycythemia Vera`, which we talked about earlier.
- Exposure to ionizing radiation: Exposure to high doses of radiation. (This is very rare).
- Exposure to certain chemicals: Long-term exposure to chemicals used in factories, such as benzene (this is also very rare).
What are the complications that can occur due to the disease?
As myelofibrosis progresses, various complications can occur.
Decreased blood cell production
When scar tissue builds up in the bone marrow, it becomes unable to make healthy blood cells. This can lead to a decrease in red blood cells, causing anemia , and a decrease in platelets, increasing the risk of bleeding.
Formation of extrahepatic blood cells from the bone marrow
When the bone marrow can't do its job, organs like the spleen and liver start making blood. This can cause those organs to swell and affect their function.
High Blood Pressure in Portal Vein
The portal vein is the main blood vessel that carries blood from the spleen to the liver. An enlarged spleen can obstruct the flow of blood through this vein, increasing the pressure inside it. This can lead to serious bleeding.
Turning into acute leukemia
In some patients, myelofibrosis can eventually develop into a very serious and rapidly spreading type of leukemia called Acute Myeloid Leukemia (AML).
How does a doctor accurately diagnose this disease?
After listening to your symptoms and examining you, the doctor will order several tests to confirm the diagnosis.
1. Blood Tests: These check whether your blood cell counts (red, white, platelets) are normal or abnormal. They also check whether the shape of the blood cells is abnormal.
2. Imaging Tests: A CT scan or ultrasound scan may be done to see if your spleen or liver is enlarged. An MRI scan can also help to see if there are any scars in the bone marrow.
3. Bone Marrow Biopsy: This is the most important test to confirm the disease. In this, a small sample of bone marrow is taken, usually from the hip bone or another large bone, under a light anesthetic. It is sent to a lab to determine exactly how much scar tissue is present, whether there are cancer cells, and whether there are any genetic mutations like the `JAK2` we talked about earlier.
Based on the results of these tests, your doctor will determine whether your disease is in the early stages (prefibrotic) or the more severe (overt) stage. They will also assess your risk level (low, intermediate, or high-risk) based on your symptoms and the type of genetic mutation. Treatment is planned based on this risk level.
What are the treatments for this?
The treatment regimen depends on the risk level of your disease, the severity of your symptoms, your age, and your overall health.
The important thing is that someone who is low-risk and has no symptoms may not be given any medication at first. Instead, the doctor will constantly monitor you (Watchful Waiting).
There are several treatments for intermediate and high-risk conditions. The main goal of treatment is to control symptoms and prevent the disease from getting worse.
| Symptom/condition being treated | Treatment methods used |
|---|---|
| For general symptoms and enlarged spleen | Targeted therapy drugs called JAK inhibitors. Examples: Ruxolitinib (Jakafi®), Fedratinib (Inrebic®), Pacritinib (Vonjo®), Momelotinib (Ojjaara®). These reduce the size of the spleen and control symptoms such as fatigue and night sweats. |
| For Anemia | - Drugs that help produce red blood cells (e.g. Erythropoietin) - Other medications (Androgens, Immunomodulators, Corticosteroids) - Blood transfusions if necessary |
| For an enlarged spleen (other methods) | - Chemotherapy drugs - Radiation therapy to the spleen - This is rarely used. - Splenectomy - This is a very rare and risky procedure. |
Stem Cell Transplant
This is the only treatment that can completely cure myelofibrosis. However, it is a very risky procedure with serious side effects. Therefore, it is not suitable for all patients. Usually, doctors recommend this treatment for high-risk, young people and people without other serious diseases.
This involves completely destroying the patient's diseased bone marrow and giving the patient stem cells obtained from a healthy donor.
Take-Home Message
- Myelofibrosis is a blood cancer that causes scarring and growth in the bone marrow. Although this is scary, don't panic.
- If you have symptoms such as unexplained extreme fatigue, heaviness in the left side of your abdomen, or easy bruising, do not ignore them and see a doctor immediately.
- Blood tests and a bone marrow biopsy are essential for an accurate diagnosis.
- Whether or not you need treatment, and what type of treatment is appropriate, depends on the risk level of your disease and your symptoms.
- Talk to your doctor very openly. Ask all your fears, doubts, and questions. Be aware of the side effects of the treatments.
- As medical science advances, new treatments for this disease are constantly emerging. So, face treatment with hope and positivity.
💬 අදහස් (0)
තවමත් කිසිදු අදහසක් පළ කර නොමැත. ඔබේ අදහස පළමු වරට මෙහි එක් කරන්න.
ඔබේ අදහස එක් කරන්න