Have you ever heard of a disease called myelofibrosis? It's actually a very rare type of blood cancer. Simply put, it's when the bone marrow , which is the soft, spongy part of your bones, is replaced by fibrous scar tissue . It's also a type of long-term leukemia, and it belongs to a group called myeloproliferative disorders. Myeloproliferative disorders are when too many blood cells are produced in the bone marrow, where blood cells are made.
What exactly is myelofibrosis?
Let's look at this in more detail. Your bone marrow contains blood-forming stem cells . These stem cells later develop into red blood cells, white blood cells, and platelets. But in someone with myelofibrosis, a mutation occurs in the genetic material, or DNA, in one of these stem cells. This causes the cell to become a defective cancer cell. This defective cell then divides and passes the mutation on to all the new cells it makes.
Over time, these abnormal cancer cells build up in large numbers. Some of these cells cause inflammation in the bone marrow. This inflammation is what causes the scar tissue I mentioned earlier to form. So, because of this scar tissue and the excess cancer cells, the bone marrow loses its ability to make healthy blood cells.
What are the main types of myelofibrosis?
There are two main types of myelofibrosis.
- Primary myelofibrosis: This is the type that occurs spontaneously, without any connection to any other disease.
- Secondary myelofibrosis: This is caused by another blood disorder. For example, it can be caused by diseases such as primary thrombocytosis or polycythemia vera. This secondary type accounts for between 10% and 20% of diagnosed patients.
How common is this disease called Myelofibrosis?
Myelofibrosis is actually a very rare condition. For example, in the United States, it is reported that this disease occurs in about 1.5 out of 100,000 people per year. It can affect anyone, regardless of age. There is no age difference, but it is more likely to be diagnosed in people over the age of 50. If myelofibrosis develops in young children, it is usually diagnosed before the age of 3.
What effects can myelofibrosis have on your body?
When blood cells are produced abnormally in this way, various complications can occur. Let's take a look at what they are:
- Anemia: This is a condition where there are not enough red blood cells. As you know, red blood cells are the ones that carry oxygen throughout the body. So when there are not enough red cells, the body's tissues do not get enough oxygen. This can cause symptoms like fatigue, weakness, and shortness of breath .
- Thrombocytopenia: This is a condition where there are too few platelets. Platelets are what help blood clot when there is an injury. So when your platelet count is low, your body can be more prone to bleeding and bruising .
- Splenomegaly: Your spleen controls blood cell counts and removes damaged red blood cells from your body. So when you make too many abnormal blood cells, your spleen has to work harder. It can become enlarged. When your spleen becomes enlarged, you may feel a fullness or discomfort in the upper left part of your abdomen .
- Extramedullary hematopoiesis: This is the development of blood-forming cells outside the bone marrow , in other parts of the body. These cells can form in places such as the lungs, gastrointestinal tract, spinal cord, brain, or lymph nodes. These cells can clump together to form tumors , which can invade other organs or interfere with their function.
- Portal hypertension: This is an increase in blood pressure in the vein that carries blood from your spleen to your liver. This is most likely caused by damage to the veins due to the extramedullary hematopoiesis mentioned earlier.
Another thing is that for about 12% of people with primary myelofibrosis, the condition can develop into a very serious type of blood cancer called acute myeloid leukemia .
What causes myelofibrosis?
Scientists still don't know exactly what causes myelofibrosis. But they have found that it is linked to changes in the DNA of certain genes . A type of protein called Janus-associated kinases (JAKs) is involved. These JAKs proteins control the production of blood cells in the bone marrow, sending signals to cells to divide and grow. If these JAKs proteins become overactive, too many or too few blood cells can be produced.
Between 60% and 65% of people with myelofibrosis have a mutation in the JAK2 gene . Another 5% to 10% have a mutation in the myeloproliferative leukemia (MPL) gene . Also, a mutation called calreticulin (CALR) is seen in between 20% and 25% of myelofibrosis patients.
Who is most at risk for this?
You may be at increased risk of developing myelofibrosis for the following reasons:
- If you are over 50 years old .
- If you have a blood disorder called primary thrombocytosis or polycythemia vera.
- If you have been exposed to ionizing radiation or petrochemicals like benzene and toluene.
What are the symptoms of myelofibrosis?
Myelofibrosis is a slowly progressive disease, so you may not have any symptoms for years. About a third of patients do not have any symptoms in the early stages.
If symptoms do occur, the most common are severe fatigue (due to anemia) and an enlarged spleen . Symptoms may also include:
- Hard work
- Fever
- Itching
- Pale skin
- Weight loss
- Night sweats
- Bone or joint pain
- Frequent infections
- Enlarged spleen or liver
- Unexplained blood clots
- Unusual bleeding or bruising
- Enlargement of the veins in the stomach and esophagus (these veins can burst and bleed).
How to diagnose this disease?
A doctor, especially an oncologist, will examine you physically, ask about your medical history, and ask about your current symptoms. They will also check for an enlarged spleen and signs of anemia.
Then, various tests are performed to rule out other conditions and confirm whether you have myelofibrosis.
Blood tests
- Complete blood count (CBC): This measures the number of different types of cells in your blood. If your red blood cells are lower than normal, or your white blood cells and platelets are abnormal, it could be a sign of myelofibrosis.
- Peripheral blood smear (PBS): This checks the size, shape, and other characteristics of your blood cells for abnormalities. If there are abnormal-looking cells and a large number of immature blood cells, it could also be a sign of myelofibrosis.
- Blood chemistry tests: These tests measure the levels of various substances released into the blood from your organs. These can tell you how well an organ is working. High levels of things like uric acid, bilirubin, and lactic dehydrogenase in the blood can also be a sign of myelofibrosis.
Bone marrow tests
- Bone marrow biopsy: This involves taking a small sample of your bone marrow and examining it under a microscope. The cells are analyzed to determine if you have myelofibrosis.
- Bone marrow aspiration: This involves removing the fluid from the bone marrow and testing it for signs of myelofibrosis.
Further tests may be needed
Further tests may be needed to confirm your diagnosis:
- Gene mutation analysis: Your doctor will test your blood and bone marrow cells for gene mutations associated with myelofibrosis, such as JAK2, CALR, and MPL. Some treatments target cancer cells that have the JAK2 mutation.
- Imaging procedures: Your doctor may do an ultrasound to check for an enlarged spleen. They may also do an MRI to check for scar tissue in the bone marrow. This scar tissue can be a sign of myelofibrosis.
How is myelofibrosis treated?
If you are not showing symptoms, you may not need treatment. However, even if you do not need immediate treatment, your doctor will continue to monitor your condition.
Jakafi® (ruxolitinib), Inrebic® (fedratinib), and Vonjo® (pacritinib) are medications approved by the U.S. Food and Drug Administration (FDA) . They are used to treat moderate to high-risk myelofibrosis. All three of these medications work as JAK inhibitors . That is, they reduce the overactive Janus-associated kinase (JAK) signaling. As a result, these medications help relieve symptoms associated with myelofibrosis, such as an enlarged spleen, night sweats, itching, weight loss, and fever.
For many, the primary goal of treatment is to manage conditions associated with myelofibrosis, such as anemia and enlarged spleen.
Treatment for Anemia
There are treatments for anemia such as:
- Androgens: Taking androgens such as danazol can increase red blood cell production.
- Immunomodulators: These drugs increase your immune system's ability to fight cancer cells, thereby reducing symptoms. Drugs like interferon, thalidomide (Thalomid®), and lenalidomide (Revlimid®) belong to this class. They may also be given in combination with glucocorticoids like prednisone.
- Chemotherapy drugs: Some chemotherapy drugs can reduce symptoms caused by increased blood cell counts and enlarged spleen. Hydroxyurea and cladribine are such drugs.
- Blood transfusions: If you have severe anemia, regular blood transfusions can increase your red blood cell count.
Splenomegaly Treatment
JAK inhibitors, immunomodulators, and chemotherapy drugs are used to manage an enlarged spleen. In severe cases, you may need to have your spleen surgically removed (splenectomy) or have radiation therapy to the spleen.
Radiation therapy may also be necessary to treat a condition called extramedullary hematopoiesis, in which blood cells develop outside the bone marrow.
Can myelofibrosis be completely cured?
Allogeneic hematopoietic cell transplantation (HCT) may be the only option to cure this disease. However, this is a risky procedure and is not suitable for everyone.
In this procedure, your abnormal blood cells are replaced with cells from a healthy donor. Before the transplant, you will be given chemotherapy or radiation therapy to kill your diseased cells. Then, the new cells from the donor can take over the functions of your body.
HCT treatment carries a high risk of complications . Therefore, it is only suitable for a select group of people. The risk of complications is even higher for people with other medical conditions. Whether you are suitable for this depends on many factors, such as your age, the severity of your symptoms, and the likelihood of success of the treatment.
What is the life expectancy like when living with this disease?
Myelofibrosis is a very serious cancer . The median survival rate for these patients is usually about six years. The median survival rate means that some people live less than six years, while a similar number live for more than six years. This is not the same for everyone, it varies from person to person.
There are several factors that determine the prognosis of your disease:
- your age.
- Your symptoms.
- Your blood cell count.
- The severity of scarring in the bone marrow.
- Whether or not there are genetic mutations (JAK2, CALR, MPL).
The most important thing is to talk openly with your doctor about how your diagnosis will affect your life.
How do I take care of myself? (Self-care)
Ask your doctor if you could benefit from palliative care . Palliative care teams may include doctors, nurses, social workers, and other specialists. They can provide you with the resources and support you need to live with this illness. In addition to the treatment you receive from your oncologist, these people can be a great source of support. Palliative care specialists can help improve your quality of life as a person living with cancer.
Finally, the most important things for you to remember
Myelofibrosis is a rare type of blood cancer in which your bone marrow is replaced by fibrous tissue. This is a serious condition that requires ongoing medical monitoring and/or treatment. Depending on your condition, you may not have any symptoms for years. In other cases, symptoms can progress quickly and make it difficult to carry out daily activities. However, there are treatments available to help control symptoms that interfere with your daily life.
In the meantime, ask your doctor about resources that can help you cope with these changes. Palliative care and support groups are very helpful options as you adjust to life with cancer.
Remember, you are not alone. Doctors, family, and friends are all there to help you. Don't be afraid to talk to your doctor about any questions you may have.
` Myelofibrosis, blood cancer, bone marrow, anemia, spleen enlargement, JAK inhibitors, leukemia
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