Introduction: Myelofibrosis symptoms
Myelofibrosis is a rare and serious blood cancer that affects the bone marrow, the soft tissue inside the bones where blood cells are made. In myelofibrosis, abnormal blood cells multiply and cause scar tissue to form in the bone marrow, disrupting the normal production of healthy blood cells. This can lead to various problems, such as anemia, bleeding, infections, and an enlarged spleen.
In this blog, we will discuss what myelofibrosis symptoms are, what causes them, how they are diagnosed, and what treatments are available. We will also share some tips on how to cope with this condition and improve your quality of life.
What are the symptoms of myelofibrosis?
Myelofibrosis symptoms can vary from person to person and may change over time. Some people may not have any symptoms at first, while others may experience them gradually or suddenly. Some of the common myelofibrosis symptoms include:
- Fatigue: This is one of the most common and debilitating symptoms of myelofibrosis. It is caused by a lack of oxygen in the tissues due to anemia, a condition where there are not enough red blood cells to carry oxygen throughout the body. Fatigue can affect your physical and mental performance, your mood, and your ability to enjoy daily activities.
- Shortness of breath: This is another symptom of anemia that can make you feel breathless even when you are resting or doing simple tasks. It can also be a sign of fluid buildup in the lungs or heart problems caused by high blood pressure or low blood volume.
- Bruising or bleeding easily: This is a symptom of thrombocytopenia, a condition where there are not enough platelets to help the blood clot properly. Platelets are small blood cells that stick together and form clots when you have a cut or injury. Without enough platelets, you may bruise easily or bleed excessively from minor wounds, nosebleeds, gums, or menstrual periods. You may also have red or purple spots on your skin called petechiae.
- Pain or fullness on your left side: This is a symptom of splenomegaly, an enlargement of the spleen due to excess abnormal blood cells accumulating in it. The spleen is an organ that filters out damaged or old blood cells and helps fight infections. When it becomes enlarged, it can press on other organs such as the stomach, causing pain or discomfort in the upper left abdomen. It can also cause early satiety, a feeling of fullness after eating only a small amount of food.
Other possible myelofibrosis symptoms include:
- Fever
- Night sweats
- Weight loss
- Bone pain
- Itching
- Infections
- Gout
- Kidney stones
What causes myelofibrosis symptoms?
Myelofibrosis symptoms are caused by the abnormal production and function of blood cells in the bone marrow. Normally, the bone marrow produces stem cells that can develop into different types of blood cells: red blood cells that carry oxygen, white blood cells that fight infections, and platelets that help with clotting.
In myelofibrosis, however, a mutation in a stem cell’s DNA causes it to become defective and produce too many abnormal blood cells. These cells do not work properly and crowd out the normal blood cells in the bone marrow. They also release chemicals that cause inflammation and scarring in the bone marrow, making it harder for it to produce healthy blood cells.
As a result, people with myelofibrosis have low levels of normal blood cells (anemia, thrombocytopenia) and high levels of abnormal blood cells (leukocytosis). These imbalances can cause various problems throughout the body.
Some people with myelofibrosis also have high levels of another type of abnormal blood cell called megakaryocytes. These are large cells that produce platelets. When they are too many or too large, they can cause problems such as:
- Portal hypertension: This is a condition where there is increased pressure in the portal vein, which carries blood from the digestive organs to the liver. This can cause bleeding in the esophagus, stomach, or intestines, or fluid buildup in the abdomen (ascites).
- Budd-Chiari syndrome: This is a condition where there is a blockage in the hepatic vein, which carries blood from the liver to the heart. This can cause liver damage, jaundice, or liver failure.
How are myelofibrosis symptoms diagnosed?
Myelofibrosis symptoms can be similar to those of other conditions, such as infections, autoimmune diseases, or other blood cancers. Therefore, it is important to see a doctor if you have any of the symptoms mentioned above, especially if they are persistent or severe.
To diagnose myelofibrosis, your doctor will ask you about your medical history, your symptoms, and your family history of blood disorders. They will also perform a physical exam to check for signs of anemia, bleeding, infection, or an enlarged spleen or liver.
Your doctor will also order some blood tests to check your blood cell counts and levels of certain proteins or enzymes. These tests can help determine if you have myelofibrosis or another condition that affects your blood cells.
Some of the blood tests that may be done include:
- Complete blood count (CBC): This test measures the number and size of your red blood cells, white blood cells, and platelets. People with myelofibrosis usually have low levels of red blood cells and platelets and high levels of white blood cells.
- Peripheral blood smear: This test examines a sample of your blood under a microscope to look for abnormal shapes or sizes of blood cells. People with myelofibrosis may have teardrop-shaped red blood cells, large platelets, or immature white blood cells.
- Erythrocyte sedimentation rate (ESR) or C-reactive protein (CRP): These tests measure the level of inflammation in your body. People with myelofibrosis usually have high levels of inflammation due to the abnormal blood cells and scarring in the bone marrow.
- Lactate dehydrogenase (LDH) or uric acid: These tests measure the level of breakdown products of blood cells in your body. People with myelofibrosis usually have high levels of these substances due to the increased turnover of abnormal blood cells.
- Genetic tests: These tests look for mutations in certain genes that are associated with myelofibrosis, such as JAK2, CALR, or MPL. About 90% of people with myelofibrosis have one of these mutations. However, having a mutation does not necessarily mean that you have myelofibrosis, as some people may have a mutation without developing the disease.
In addition to blood tests, the doctor may also order some imaging tests to check for signs of organ damage or complications caused by myelofibrosis. These tests may include:
- Ultrasound: This test uses sound waves to create images of your internal organs. It can help detect an enlarged spleen or liver, fluid buildup in the abdomen, or blockages in the veins.
- Computed tomography (CT) scan: This test uses X-rays to create detailed images of your internal organs. It can help detect an enlarged spleen or liver, fluid buildup in the abdomen, or blockages in the veins.
- Magnetic resonance imaging (MRI) scan: This test uses magnets and radio waves to create detailed images of your internal organs. It can help detect an enlarged spleen or liver, fluid buildup in the abdomen, or blockages in the veins.
- Bone marrow biopsy: This test involves taking a small sample of your bone marrow from your hip bone using a needle. The sample is then examined under a microscope to look for abnormal blood cells and scar tissue. This test can confirm the diagnosis of myelofibrosis and help determine its severity.
How are myelofibrosis symptoms treated?
There is no cure for myelofibrosis at present. The goal of treatment is to manage the symptoms and complications caused by the disease and improve your quality of life. The type and intensity of treatment depend on several factors, such as:
- Your age and general health
- Your symptoms and their severity
- Your blood cell counts and levels
- Your risk of developing leukemia
- Your personal preferences and goals
Some of the treatment options for myelofibrosis symptoms include:
- Medications: There are several types of medications that can help reduce some of the symptoms and complications caused by myelofibrosis. These include:
- Blood transfusions: These involve receiving donated red blood cells or platelets through a vein to treat anemia or bleeding.
- Growth factors: These are substances that stimulate the production of healthy blood cells in the bone marrow. They include erythropoietin (EPO) for red blood cells and thrombopoietin (TPO) for platelets.
- Hydroxyurea: This is a drug that lowers the number of abnormal white blood cells and reduces the risk of bleeding
- Blood transfusions: These involve receiving donated red blood cells or platelets through a vein to treat anemia or bleeding.
- Androgen therapy: This is a type of hormone therapy that uses synthetic male hormones (androgens) to stimulate the production of red blood cells in the bone marrow. It can help treat anemia and improve energy levels and appetite.
- JAK inhibitors: These are drugs that block the activity of a protein called JAK2, which is involved in the growth and survival of abnormal blood cells. JAK inhibitors can help reduce the size of the spleen, improve symptoms, and lower the risk of complications. The most commonly used JAK inhibitor for myelofibrosis is ruxolitinib (Jakafi).
- Immunomodulators: These are drugs that modify the immune system’s response to abnormal blood cells. Immunomodulators can help reduce inflammation and scarring in the bone marrow, improve blood cell counts, and lower the risk of leukemia. Some examples of immunomodulators are thalidomide (Thalomid), lenalidomide (Revlimid), and pomalidomide (Pomalyst).
- Interferons: These are substances that are naturally produced by the body to fight infections and cancers. Interferons can help slow down the growth of abnormal blood cells, improve blood cell counts, and lower the risk of leukemia. Some examples of interferons are interferon-alpha (Intron A, Roferon-A) and pegylated interferon-alpha (Pegasys).
- JAK inhibitors: These are drugs that block the activity of a protein called JAK2, which is involved in the growth and survival of abnormal blood cells. JAK inhibitors can help reduce the size of the spleen, improve symptoms, and lower the risk of complications. The most commonly used JAK inhibitor for myelofibrosis is ruxolitinib (Jakafi).
- Surgery: This involves removing the spleen (splenectomy) or reducing its size with radiation (splenic irradiation). Surgery can help relieve symptoms caused by an enlarged spleen, such as pain, fullness, or early satiety. However, surgery also has some risks, such as bleeding, infection, or liver problems.
- Stem cell transplant: This is the only treatment that can potentially cure myelofibrosis. It involves replacing your damaged bone marrow with healthy stem cells from a donor who matches your tissue type. The donor stem cells can grow into normal blood cells and restore your blood cell production. However, stem cell transplant is a complex and risky procedure that is not suitable for everyone. It requires high doses of chemotherapy or radiation to destroy your bone marrow before receiving the donor stem cells. This can cause serious side effects, such as infections, graft-versus-host disease (GVHD), or organ damage.
What is the outlook for people with myelofibrosis symptoms?
The outlook for people with myelofibrosis symptoms depends on several factors, such as:
- The severity and progression of the disease
- The response and tolerance to treatment
- The presence of complications or other health conditions
- The age and general health of the person
According to a study published in 2017, the median survival for people with myelofibrosis was about 6 years from diagnosis. However, this may vary widely depending on individual circumstances. Some people may live longer than 10 years, while others may have a shorter life expectancy.
Some factors that may affect survival include:
- The presence of certain gene mutations, such as JAK2 or CALR
- The level of white blood cells or blast cells (immature blood cells) in the blood
- The presence of anemia or thrombocytopenia
- The size of the spleen or liver
- The presence of constitutional symptoms, such as fever, weight loss, or night sweats
- The presence of portal hypertension or Budd-Chiari syndrome
How can I cope with myelofibrosis symptoms?
Living with myelofibrosis symptoms can be challenging and stressful. You may experience physical discomfort, emotional distress, or practical difficulties due to your condition. However, there are some ways to cope with your situation and improve your quality of life. Some tips include:
- Seek medical care regularly: Follow your doctor’s advice on how to manage your symptoms and complications. Take your medications as prescribed and report any side effects or changes in your condition. Attend your appointments and tests as scheduled and ask questions if you have any doubts or concerns.
- Seek emotional support: Having myelofibrosis can affect your mood and mental health. You may feel anxious, depressed, angry, or isolated due to your condition. It is important to seek emotional support from your family, friends, or other people who understand what you are going through. You can also join a support group for people with myelofibrosis or other blood cancers. Talking to a counselor or therapist can also help you cope with your feelings and challenges.
- Seek practical support: Having myelofibrosis can affect your daily activities and responsibilities. You may need help with household chores, work, or finances due to your symptoms or treatments. It is important to seek practical support from your family, friends, or other sources of assistance. You can also contact a social worker or an organization that provides services or resources for people with cancer.
- Seek information and education: Having myelofibrosis can be confusing and overwhelming. You may have many questions or worries about your condition, treatments, or prognosis. It is important to seek information and education from reliable sources, such as your doctor, nurse, or pharmacist. You can also read books, articles, or websites that provide accurate and up-to-date information about myelofibrosis. Learning more about your condition can help you make informed decisions and cope better with your situation.
- Seek healthy habits: Having myelofibrosis can affect your physical health and well-being. You can improve your health and well-being by adopting some healthy habits, such as:
- Eating a balanced and nutritious diet that provides enough calories, protein, iron, vitamins, and minerals for your body. Avoid foods that are high in fat, salt, sugar, or alcohol. Drink plenty of fluids to stay hydrated and prevent dehydration.
- Exercising regularly and moderately to improve your blood circulation, muscle strength, bone health, and mood. Avoid activities that are too strenuous or that may cause injury or bleeding. Consult your doctor before starting any exercise program.
- Sleeping well and enough to rest your body and mind. Avoid caffeine, nicotine, or alcohol before bedtime. Follow a regular sleep schedule and create a comfortable and quiet sleeping environment. If you have trouble sleeping, talk to your doctor about possible solutions.
- Managing stress and relaxation to reduce the negative effects of stress on your body and mind. Stress can worsen your symptoms and lower your immunity. Find healthy ways to cope with stress, such as meditation, yoga, breathing exercises, hobbies, or music. Avoid unhealthy ways to cope with stress, such as smoking, drinking, or overeating.
- Eating a balanced and nutritious diet that provides enough calories, protein, iron, vitamins, and minerals for your body. Avoid foods that are high in fat, salt, sugar, or alcohol. Drink plenty of fluids to stay hydrated and prevent dehydration.
Conclusion
Myelofibrosis is a rare and serious blood cancer that affects the bone marrow and the production of blood cells. It can cause various symptoms and complications that can affect your quality of life. However, there are treatments available that can help manage the symptoms and complications and improve your quality of life. There is also hope for a cure with stem cell transplant for some people.
If you have myelofibrosis symptoms or suspect that you may have this condition, it is important to see a doctor as soon as possible for diagnosis and treatment. It is also important to seek support from your family, friends, or other sources of assistance to cope with your situation.
