Myelofibrosis
Table of Contents
With myelofibrosis, scar tissue forms inside the bone marrow. As scar tissue increases, the bone marrow cannot make enough healthy blood cells. Primary myelofibrosis develops on its own. Secondary myelofibrosis can result from another bone marrow disorder (such as polycythemia vera or essential thrombocythemia). In either case, the body is not able to produce blood cells normally.
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Risk Factors
Little is known about the causes of primary myelofibrosis. It is usually diagnosed in people over age 50 but can affect people of any age. Doctors who study myelofibrosis in a laboratory have found that many people with the disease have a mutation (or change) in certain genes, including janus kinase 2 (JAK2), CALR, or MPL. The JAK2 gene tells our cells to make the JAK2 protein. This protein promotes cell growth and controls blood-forming (hematopoietic) stem cells. The CALR gene gives instructions for making a protein called “calreticulin” which is thought to play a role in cell growth. The MPL gene gives instructions for making a protein called “thrombopoietin receptor protein.” This receptor is important for cell growth.
Signs & Symptoms
Myelofibrosis often develops slowly. Symptoms may not be seen in the very early stages. The first signs are usually due to an enlarged spleen or related to abnormal blood counts. As cancer develops, your normal blood cells do not function correctly and symptoms appear. Check with your doctor if you are experiencing:
Myelofibrosis often develops slowly. Symptoms may not be seen in the very early stages. The first signs are usually due to an enlarged spleen or related to abnormal blood counts. As cancer develops, your normal blood cells do not function correctly and symptoms appear. Check with your doctor if you are experiencing:
- Fatigue, weakness, or shortness of breath. These symptoms are associated with a decrease in the red blood cells (anemia)
- Inactivity
- Difficulty concentrating
- Pain or fullness below the ribs on the left side, as a result of an enlarged spleen
- Poor appetite
- Enlarged liver
- Pale skin
- Easy bruising or bleeding
- Numbness/tingling
- Flat, red, pinpoint spots under the skin caused by bleeding
- Excessive night sweats
- Fever
- Frequent infections, due to a low white blood cell count
- Bone or joint pain
- Weight loss
- Itchiness
Diagnosis & Treatment Planning
Common first symptoms include an enlarged spleen or abnormal blood count, which prompts further evaluation. The results of a blood test that suggest a diagnosis of MF often include:
- A decrease in the number of red blood cells (anemia) below the normal range
- An increase or decrease in the number of white blood cells
- An increase in platelets above the normal range (occurs in about one-third of MF patients)
- A mild to moderate decrease in platelets below the normal range (occurs in about one-third of MF patients)
Ask your doctor about what the normal ranges for these tests are and how your results compare.
If you have symptoms, you may be referred to a doctor who specializes in blood cancers for further testing of the blood and bone marrow, including:
Complete blood count: a blood test that measures the white blood cells, red blood cells, and platelets in the blood
Ultrasound: uses high-frequency sound waves to look at organs and structures inside the body (including the spleen)
MRI: a scan that uses magnets and radio frequency waves to produce images of the inside of the body
Bone marrow biopsy: removal of a small amount of your bone and bone marrow for laboratory analysis. This sample typically comes from the back of the hip (iliac crest) in your doctor’s office.
Genetic tests: analysis of a sample of your blood or bone marrow tissue to study the genetic make-up. Your doctor may also test for genetic mutations and/or do a chromosome analysis. Chromosome analysis tests the number and structure of your chromosomes to see if there are any abnormalities.
If these tests confirm a diagnosis of myelofibrosis, you will continue to see a hematologist/oncologist, the doctor who treats blood cancers. Your doctor may request additional tests based on your diagnosis.
A chronic illness becomes part of who you are and how you live your life. A diagnosis of myelofibrosis may require changes in your routine, how you care for yourself or what you need from others in your life. It does not, however, define you. You are not your disease.
Watch and Wait
People with no symptoms are generally not treated at the time of diagnosis. Some people remain stable and symptom-free for several years. It is very important for anyone who has been diagnosed with myelofibrosis to be closely monitored through regular medical check-ups to look for any signs or symptoms of disease progression.
Treatment Options & Side Effects
Treatment for myelofibrosis can involve many different doctors, including a hematologist/oncologist, a surgeon, a radiation oncologist, and/or a stem cell transplant specialist. Your healthcare team also may include an oncology nurse, a nurse navigator, a counselor or social worker, and a pharmacist. These people can help you find information and resources that may be useful before, during, and after treatment.
Ask your doctor about the other members of your healthcare team, their names, and how you can meet them. You also may want to ask your insurance company to assign you a case manager to help you understand which treatments and services your health insurance will cover.
There are many methods that can be used to treat myelofibrosis. They work in different ways and have different side effects. Ask your doctor or nurse to tell you about possible side effects before starting a new treatment.
Here are some of the most common methods to treat myelofibrosis and their side effects:
- Drug Therapies
- Chemotherapy
- Cytoreductive Therapies
- JAK Inhibitors
- Immunomodulators (IMiDs)
- Recombinant Erythropoietin
- Radiation Therapy
- Surgical Removal of the Spleen (Splenectomy)
- Allogenic Stem Cell Transplantation
- Androgen Therapy
Treatment:
Many kinds of drugs are used to treat myelofibrosis. They work in different ways and have different side effects. Ask your doctor or nurse to tell you about possible side effects before starting a new drug.
Treatment:
Chemotherapy (also called chemo) uses drugs to destroy or damage fast-growing cells like cancer cells. It is used to shrink tumors, slow cancer growth, relieve symptoms, or help people live longer. Chemotherapy drugs are given in different ways (intravenously, orally by a pill, or by injection).
Side Effects:
The side effects of chemotherapy depend on the drugs and the dose and may include hair loss, loss of appetite, nausea and vomiting, diarrhea, fatigue, and mouth sores.
Treatment:
These drugs reduce the blood counts and are usually given by mouth (orally). The main side effects is lowering of the blood counts (in some cases too much).
Side Effects:
Cytoreductive therapies can cause changes to appetite, nausea, vomiting, diarrhea, infection, changes to blood cell counts, and headaches.
Treatment:
These new kinds of drugs work by targeting the JAK1 and/or JAK2 proteins that help regulate blood. They can treat and lessen some of the symptoms of myelofibrosis, including an enlarged spleen, night sweats, itching and bone or muscle pain. They can work in both patients that have a JAK2 mutation and those that do not.
Side Effects:
JAK Inhibitors side effects can include an increased risk of bleeding and infection, bruising, dizziness and headaches.
Treatment:
These drugs fight cancer cells by helping the immune system work normally. They sometimes are used to treat symptoms such as anemia, an enlarged spleen, bone pain and high platelet count.
Side Effects:
Side effects can include drowsiness, fatigue, constipation, numbness/tingling, and changes to blood cell counts.
Treatment:
This treatment helps regulate red blood cell production. An injection is given into a muscle or under the skin.
Side Effects:
Side effects can include skin irritation at the injection site, feeling hot or flushed, shivering, itching, rash, dizziness, nausea, headache, an feeling breathless or wheezy.
Treatment:
Radiation uses high-powered beams, such as X-rays, to kill cells. Radiation therapy can help reduce the size of the spleen, when surgical removal isn’t an option. It is also used to treat bone pain and tumors outside of the bone marrow.
Side Effects:
Fatigue, skin irritation, hair loss in the area receiving radiation, nausea, vomiting, diarrhea, and sores in the mouth.
Treatment:
If your spleen is enlarged and causing harmful complications and pain, and other interventions have not been successful, you may benefit from having your spleen surgically removed. Your doctor will consider the risks and benefits of your particular situation and determine if this is a feasible option. If surgery is done, you should be closely monitored for complications.
Side Effects:
Surgical removal of the spleen can cause side effects such as blood clots and infections. You should be closely monitored for complications. Most people will also take a ”prophylactic antibiotic” after surgery. This is a type of antibiotic meant to prevent infection.
Treatment:
An allogenic stem cell treatment is the only type of treatment that has the potential to cure myelofibrosis. It is a very high-risk treatment that depends on the availability of a suitable donor. It is not an option for everyone. In this type of transplant, a person with myelofibrosis receives high doses of chemotherapy or radiation to destroy the diseased bone marrow. The donor stem cells (from someone other than the patient) are then infused into the patient.
Myeloablative and non-myeloablative regimens are types of allogenic stem cell transplants.
Non-myeloablative stem cell transplants use lower doses of chemotherapy or radiation prior to the infusion of donor cells. This type of transplant can be used in older patients, who may not be eligible for an allogeneic transplant.
Side Effects:
Side effects of stem cell transplantation include infections, decreased white blood cells, and graft-versus-host disease (GVHD). GVHD occurs when the white blood cells of the donor attack your own cells. This can cause rashes, itching, mouth sores, nausea, diarrhea, and fatigue.
Side effects for non-myeloablative stem cell transplants can include headache, diarrhea, weakness, nausea, and dizziness.
Treatment:
This hormone treatment can increase red blood cell production. These drugs may help with the symptoms of severe anemia.
Side Effects:
These drugs can harm the liver, and, therefore, require close monitoring through blood tests and ultrasounds. They also can cause facial hair growth and other masculinizing effects in women.
Many kinds of drugs are used to treat myelofibrosis. They work in different ways and have different side effects. Ask your doctor or nurse to tell you about possible side effects before starting a new drug.
Other treatments may be available through clinical trials. Clinical trials can offer the opportunity to benefit from the latest treatments or combinations of treatments while helping advance knowledge of the disease and its treatment options. Ask your health care team if a clinical trial might be right for you.
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