Tests and procedures used to diagnose myelofibrosis include:
- Physical exam. Your doctor will perform a physical exam. This includes a check of vital signs, such as pulse and blood pressure, as well as checks of your lymph nodes, spleen and abdomen.
- Blood tests. In myelofibrosis, a complete blood count typically shows abnormally low levels of red blood cells, a sign of anemia common in people with myelofibrosis. White blood cell and platelet counts are usually abnormal, too. Often, white blood cell levels are higher than normal, although in some people they may be normal or even lower than normal. Platelet counts may be higher or lower than normal.
- Imaging tests. Imaging tests, such as X-rays and MRI, may be used to gather more information about your myelofibrosis.
Bone marrow examination. Bone marrow biopsy and aspiration can confirm a diagnosis of myelofibrosis.
In a bone marrow biopsy, a needle is used to draw a sample of bone tissue and the enclosed marrow from your hipbone. During the same procedure, another type of needle may be used to withdraw a sample of the liquid portion of your bone marrow. The samples are studied in a laboratory to determine the numbers and types of cells found.
- Testing cancer cells for gene mutations. In a laboratory, doctors will analyze your blood or bone marrow cells for gene mutations, such as JAK2, CALR and MPL. Your doctor uses the information from these tests to determine your prognosis and your treatment options.
The goal of treatment for most people with myelofibrosis is to provide relief from signs and symptoms of the disease. For some, a bone marrow transplant may provide a chance for a cure, but this treatment is very hard on the body and it might not be an option for many people.
In order to determine which myelofibrosis treatments are most likely to benefit you, your doctor may use one or more formulas to assess your condition. These formulas take into account many aspects of your cancer and your overall health to assign a risk category that indicates the aggressiveness of the disease.
Low-risk myelofibrosis may not require immediate treatment, while people with high-risk myelofibrosis may consider an aggressive treatment, such as bone marrow transplant. For intermediate-risk myelofibrosis, treatment is usually directed at managing symptoms.
Immediate treatment may not be necessary
Myelofibrosis treatment may not be necessary if you aren't experiencing symptoms. You might not need treatment right away if you don't have an enlarged spleen and you don't have anemia or your anemia is very mild. Rather than treatment, your doctor is likely to monitor your health closely through regular checkups and exams, watching for any signs of disease progression. Some people remain symptom-free for years.
Treatments for anemia
If myelofibrosis is causing severe anemia, you may consider treatment, such as:
- Blood transfusions. If you have severe anemia, periodic blood transfusions can increase your red blood cell count and ease anemia symptoms, such as fatigue and weakness. Sometimes, medications can help improve anemia.
- Androgen therapy. Taking a synthetic version of the male hormone androgen may promote red blood cell production and may improve severe anemia in some people. Androgen therapy does have risks, including liver damage and masculinizing effects in women.
- Thalidomide and related medications. Thalidomide (Thalomid) and the related drug lenalidomide (Revlimid) may help improve blood cell counts and may also relieve an enlarged spleen. These drugs may be combined with steroid medications. Thalidomide and related drugs carry a risk of serious birth defects and require special precautions.
Treatments for an enlarged spleen
If an enlarged spleen is causing complications, your doctor may recommend treatment. Your options may include:
- Targeted drug therapy. Targeted drug treatments focus on specific abnormalities present within cancer cells. Targeted treatments for myelofibrosis focus on cells with the JAK2 gene mutation. These treatments are used to reduce symptoms of an enlarged spleen.
- Chemotherapy. Chemotherapy uses powerful drugs to kill cancer cells. Chemotherapy drugs may reduce the size of an enlarged spleen and relieve related symptoms, such as pain.
Surgical removal of the spleen (splenectomy). If your spleen becomes so large that it causes you pain and begins to cause harmful complications — and if you don't respond to other forms of therapy — you may benefit from having your spleen surgically removed.
Risks include infection, excessive bleeding and blood clot formation leading to stroke or pulmonary embolism. After the procedure, some people experience liver enlargement and an abnormal increase in platelet count.
- Radiation therapy. Radiation uses high-powered beams, such as X-rays and protons, to kill cancer cells. Radiation therapy can help reduce the size of the spleen when surgical removal isn't an option.
Bone marrow transplant
A bone marrow transplant, also called a stem cell transplant, is a procedure to replace your diseased bone marrow using healthy blood stem cells. For myelofibrosis, the procedure uses stem cells from a donor (allogeneic stem cell transplant).
This treatment has the potential to cure myelofibrosis, but it also carries a high risk of life-threatening side effects, including a risk that the new stem cells will react against your body's healthy tissues (graft-versus-host disease).
Many people with myelofibrosis, because of age, stability of the disease or other health problems, don't qualify for this treatment.
Prior to a bone marrow transplant, you receive chemotherapy or radiation therapy to destroy your diseased bone marrow. Then you receive infusions of stem cells from a compatible donor.
Supportive (palliative) care
Palliative care is specialized medical care that focuses on providing relief from pain and other symptoms of a serious illness. Palliative care specialists work with you, your family and your other doctors to provide an extra layer of support that complements your ongoing care. Palliative care can be used while undergoing other aggressive treatments, such as surgery, chemotherapy or radiation therapy.
When palliative care is used along with all of the other appropriate treatments, people with cancer may feel better and live longer.
Palliative care is provided by a team of doctors, nurses and other specially trained professionals. Palliative care teams aim to improve the quality of life for people with cancer and their families. This form of care is offered alongside curative or other treatments you may be receiving.
Coping and support
Living with myelofibrosis may involve coping with pain, discomfort, uncertainty and the side effects of long-term treatments. The following steps may help ease the challenge and make you feel more comfortable and in charge of your health:
- Learn enough about your condition to feel comfortable making decisions. Myelofibrosis is fairly uncommon. To help you find accurate and trustworthy information, ask your doctor to direct you toward appropriate sources. Using these sources, find out as much as you can about myelofibrosis.
Get support. Take this opportunity to lean on family and friends. It can be tough to talk about your diagnosis, and you'll likely get a range of reactions when you share the news. But talking about your diagnosis and passing along information about your condition can help you build a support network. So can the offers of help that often result.
You may also benefit from joining a support group, either in your community or on the internet. A support group of people with the same or a similar diagnosis, such as a myeloproliferative disorder or another rare disease, can be a source of useful information, practical tips and encouragement.
Explore ways to cope with the disease. If you have myelofibrosis, you may face frequent bloodwork and medical appointments and regular bone marrow exams. Some days, you may feel sick even if you don't look sick. And some days, you may just be sick of being sick.
Try to find an activity that helps, whether it's yoga, exercise, socializing or adopting a more flexible work schedule. Talk to a counselor, therapist or oncology social worker if you need help dealing with the emotional challenges of this disease.
Preparing for your appointment
If your primary doctor suspects that you have myelofibrosis — often based on an enlarged spleen and abnormal blood tests — you're likely to be referred to a doctor who specializes in blood disorders (hematologist).
Because appointments can be brief, and because there's often a lot of information to discuss, it's a good idea to be prepared. Here's some information to help you get ready, and what to expect from your doctor.
What you can do
- Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance, such as restrict your diet.
- Write down any symptoms you're experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
- Write down key personal information, including any major stresses or recent life changes.
- Make a list of all medications, vitamins or supplements that you're taking.
- Take a family member or friend along. Sometimes it can be difficult to remember all the information provided during an appointment. Someone who accompanies you may remember something that you missed or forgot.
- Write down questions to ask your doctor.
Your time with your doctor is limited, so preparing a list of questions will help you make the most of your time together. List your questions from most important to least important in case time runs out. For myelofibrosis, some basic questions to ask your doctor include:
- What is likely causing my symptoms or condition?
- What are other possible causes for my symptoms or condition?
- What kinds of tests do I need?
- Is my condition likely temporary or chronic?
- What is the best course of action?
- What are the alternatives to the primary approach that you're suggesting?
- I have other health conditions. How can I best manage them together?
- Are there any restrictions that I need to follow?
- Should I see a specialist? What will that cost, and will my insurance cover it?
- Is there a generic alternative to the medicine you're prescribing?
- Are there any brochures or other printed material that I can take with me? What websites do you recommend?
- What will determine whether I should plan for a follow-up visit?
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask additional questions during your appointment.
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may allow more time to cover other points you want to address. Your doctor may ask:
- When did you first begin experiencing symptoms?
- Have your symptoms been continuous or occasional?
- How severe are your symptoms?
- What, if anything, seems to improve your symptoms?
- What, if anything, appears to worsen your symptoms?