Immediate treatment may not be necessary

If you aren't experiencing symptoms and don't show signs of anemia, an enlarged spleen or other complications, treatment usually isn't necessary. Instead, 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 that target gene mutations

Researchers are working to develop medications that target the JAK2 gene mutation that's thought to be responsible for myelofibrosis.

The first of these medications approved by the Food and Drug Administration is ruxolitinib (Jakafi). Ruxolitinib and the other medications being developed and tested in clinical trials have been helpful in decreasing enlarged spleens and reducing symptoms associated with myelofibrosis.

It's not yet clear whether these medications can help people with myelofibrosis live longer. But preliminary indications from clinical trials show promise.

Ruxolitinib works by stopping the action of all JAK-related genes in the body, including those found in both healthy and diseased cells. Because healthy cells are affected, side effects may occur, such as bleeding, infection, bruising, dizziness and headaches.

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 drugs lenalidomide (Revlimid) and pomalidomide (Pomalyst) 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. This type of treatment is being studied in clinical trials.

Treatments for enlarged spleen

If an enlarged spleen is causing complications, your doctor may recommend treatment. Your options may include:

• Chemotherapy. Chemotherapy drugs may reduce the size of an enlarged spleen and relieve related symptoms, such as pain.
• Radiation therapy. 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.

• Surgical removal of the spleen (splenectomy). If the size of 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.

• Targeted drug therapy. Ruxolitinib, which targets the gene mutation found in most cases of myelofibrosis, may be used to reduce symptoms of an enlarged spleen.

Stem cell transplant

Allogeneic stem cell transplantation — stem cell transplantation from a suitable donor — is the only treatment that has the potential to cure myelofibrosis. But it also has a high risk of life-threatening side effects.

Many people with myelofibrosis, because of age, stability of the disease or other health problems, don't qualify for this treatment.

Prior to a stem cell transplant, also called a bone marrow transplant, you receive very high doses of chemotherapy or radiation therapy to destroy your diseased bone marrow. Then you receive infusions of stem cells from a compatible donor.

After the procedure, there's a risk that the new stem cells will react against your body's healthy tissues, causing potentially fatal damage (graft-versus-host disease). Other risks include organ or blood vessel damage, cataracts, and the development of a different cancer later on.

Doctors are studying a reduced-intensity transplant, also called a nonmyeloablative transplant or minitransplant. Reduced-intensity transplants use lower doses of pretransplant chemotherapy and radiation. Although reduced-intensity transplantation has side effects, doctors hope that it will one day be a safer option for older adults.

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.

Overview

Myelofibrosis is a kind of bone marrow cancer. Bone marrow is the soft matter inside the bones where blood cells are made. Myelofibrosis causes scarring in the bone marrow. This makes it hard for the bone marrow to make healthy blood cells.

Myelofibrosis sometimes happens on its own. This is called primary myelofibrosis. Sometimes it's caused by another blood cell condition. When this happens, it's called secondary myelofibrosis.

Some people with myelofibrosis have no symptoms and might not need treatment right away. Others with more-serious forms of the disease might need treatment. Treatment for myelofibrosis typically focuses on relieving symptoms.

Myelofibrosis belongs to a group of cancers called myeloproliferative neoplasms. These cancers cause the body to make too many blood cells that don't work right. Myelofibrosis and the other myeloproliferative neoplasms can lead to different types of leukemia. Leukemia is cancer that affects the blood-forming tissues in the body.

Symptoms

Myelofibrosis signs and symptoms may include:

• Feeling tired, weak or short of breath.
• Pain or fullness below the ribs on the left side.
• Easy bruising.
• Easy bleeding.
• Sweating a lot while sleeping, so that you wake feeling covered in sweat.
• Fever.
• Bone pain.
• Feeling full after eating a small amount of food.

When to see a doctor

Make an appointment with a doctor or other healthcare professional if you have any symptoms that worry you.

Causes

It's often not clear what causes myelofibrosis. This cancer happens in the bone marrow. Bone marrow is the soft matter inside the bones where blood cells are made.

The bone marrow makes cells called blood stem cells that can become other kinds of cells. When needed, these stem cells can turn into the blood cells that circulate through the body. Blood stem cells can become:

• Red blood cells that carry oxygen to the body.
• White blood cells that help fight infections.
• Platelets that help stop bleeding.

Myelofibrosis starts when blood stem cells in the bone marrow develop changes in their DNA. A cell's DNA holds the instructions that tell the cell what to do. In healthy blood stem cells, the DNA gives instructions to turn into blood cells in a controlled way.

In myelofibrosis, the DNA changes give different instructions to the blood stem cells. The changes tell the blood stem cells to make more blood cells than the body needs. The blood cells don't work like healthy blood cells.

Myelofibrosis also causes scarring in the bone marrow. The scarring makes it hard for the bone marrow to make healthy blood cells.

The extra blood cells that don't work right and the bone marrow scarring both can cause too few healthy blood cells in the body. This leads to the symptoms of myelofibrosis. For example, feeling weak and tired can happen if there are too few red blood cells to carry oxygen in the blood.

Healthcare professionals have discovered some genetic changes in the DNA that can cause myelofibrosis, including changes to the:

• Janus kinase 2 gene, also called JAK2.
• Calreticulin gene, also called CALR.
• Thrombopoietin receptor gene, also called MPL.

Your healthcare team might test your cancer cells to see if these changes are present. The results can impact your prognosis and your treatment options.

Risk factors

Although the cause of myelofibrosis often isn't known, healthcare professionals have found some things that might raise the risk. Risk factors include:

• Increasing age. Myelofibrosis can affect anyone, but it's most often diagnosed in people older than 50.
• Another blood cell condition. A small portion of people with myelofibrosis develop the condition as a complication of essential thrombocythemia or polycythemia vera.
• Exposure to benzene. Myelofibrosis has been linked to high levels of exposure to the industrial chemical benzene.
• Exposure to radiation. People exposed to very high doses of radiation have an increased risk of myelofibrosis.

Complications

Complications that may result from myelofibrosis include:

Enlarged spleen

People with myelofibrosis often have an enlarged spleen. The spleen is tucked below the rib cage on the left side of the belly. This organ has many jobs, including storing extra blood cells. In myelofibrosis, extra blood cells made by the bone marrow can build up in the spleen. This causes it to swell. The spleen also might start making blood cells if myelofibrosis causes severe scarring in the bone marrow. This creates more cells that can cause the spleen to swell. When the spleen swells it becomes enlarged. A severely enlarged spleen can cause belly pain and feeling full after eating only a little food.

Portal hypertension

Portal hypertension is the medical term for increased pressure in the portal vein. The portal vein brings blood to the liver. If an enlarged spleen is sending more blood than usual to the liver, it may cause pressure in the portal vein. Pressure in the portal vein can force blood into smaller veins and cause bleeding in the stomach and esophagus.

Growths in other areas of the body

If myelofibrosis makes it hard for the bone marrow to make blood cells, other organs might start making blood cells. The liver and spleen might start making blood cells. Growths of tissue that can make blood cells might form in other areas of the body. This can lead to bleeding in the digestive system, coughing or spitting up blood, compression of the spinal cord, or seizures.

Bleeding complications

Myelofibrosis makes it hard for the body to make healthy platelets. Platelets are blood cells that help stop bleeding. If you have too few healthy platelets, you might bruise more easily. You also could have an increased risk of dangerous bleeding.

Leukemia

Some people with myelofibrosis develop acute myelogenous leukemia. This is a type of blood and bone marrow cancer that often gets worse quickly.

Diagnosis

Myelofibrosis diagnosis often starts with a physical exam. Other tests that can help diagnose this bone marrow cancer include blood tests and imaging tests. A healthcare professional may take a sample of your bone marrow for testing.

Physical exam

Your healthcare professional may ask about your symptoms and examine your body. The health professional might feel your belly to check for signs of swelling in the spleen and liver.

Blood tests

A healthcare professional might take a sample of blood for testing. One blood test used for myelofibrosis is a complete blood count. This test counts the number of cells in a sample of blood. In people with myelofibrosis, this test often finds low numbers of red blood cells. White blood cell and platelet counts may be higher or lower than expected.

Imaging tests

Imaging tests make pictures of the inside of the body. For myelofibrosis, a healthcare professional might use the pictures to see whether the spleen and liver are larger than usual. They also may look for signs that scar tissue has replaced healthy tissue in the bone marrow. Imaging tests might include computerized tomography scans, also called CT scans, and magnetic resonance imaging scans, also called MRI scans.

Bone marrow aspiration and biopsy

Bone marrow aspiration and biopsy are procedures that involve collecting cells from the bone marrow. The cells are sent for testing.

Bone marrow has a solid part and a liquid part. In a bone marrow aspiration, a needle is used to draw a sample of the fluid. In a bone marrow biopsy, a needle is used to collect a small amount of the solid tissue and the enclosed fluid. The samples are typically taken from the hip bone.

In people with myelofibrosis, this test might find signs of scarring in the bone marrow.

Testing cancer cells for DNA changes

If concerning cells are found in the blood or bone marrow, these cells might be tested for changes in the DNA inside the cells. The genetic changes found in the DNA of your cancer cells can help your healthcare team make a diagnosis. The changes also might help your healthcare team make a treatment plan.

The genetic changes that are most common in myelofibrosis cells are called JAK2, CALR and MPL.

Treatment

Treatments for myelofibrosis include blood transfusions and medicines, such as chemotherapy and targeted therapy. Other treatments include surgery to remove the spleen, radiation therapy and bone marrow transplant, also called stem cell transplant.

The goal of treatment for most people with myelofibrosis is to provide relief from symptoms of the disease. For some, a bone marrow transplant, also called a stem cell transplant, may provide a chance for a cure. This treatment can be very hard on the body, and it might not be an option for many people.

To find out which myelofibrosis treatments are most likely to benefit you, your healthcare professional may use one or more formulas to assess your condition. These formulas take into account many aspects of your cancer and your overall health. A healthcare professional may assign a risk category that indicates how serious your condition is.

A lower risk myelofibrosis might grow slowly. Treatment might not be needed right away, or treatment might focus on controlling any symptoms. A higher risk myelofibrosis might be getting worse quickly. People with higher risk myelofibrosis might consider stronger treatments, such as a bone marrow transplant.

Treatment may not be needed right away

Myelofibrosis treatment might not be needed right away if you don't have any symptoms. Rather than giving you treatment, your healthcare professional may monitor your health closely through regular checkups and exams. Some people remain symptom-free for years.

Treatments for anemia

If myelofibrosis is causing severe anemia, your healthcare professional may recommend treatments such as:

• Blood transfusions.
• Medicines that increase blood cell production.

Treatments for an enlarged spleen

If an enlarged spleen is causing complications, your healthcare professional may recommend treatment. Your options may include:

• Targeted therapy. Targeted therapy for cancer is a treatment that uses medicines that attack specific chemicals in the cancer cells. By blocking these chemicals, targeted treatments can cause cancer cells to die. For myelofibrosis, targeted therapy medicines attack cells with changes in the JAK2 gene.
• Chemotherapy. Chemotherapy treats cancer with strong medicines.
• Surgery to remove the spleen. Surgery to remove the spleen is called splenectomy. It might be used if other treatments don't help.
• Radiation therapy. Radiation therapy treats cancer with powerful energy beams. Radiation therapy can help reduce the size of the spleen. It might be used if surgery isn't an option.

Bone marrow transplant

A bone marrow transplant, also called a bone marrow stem cell transplant, involves putting healthy bone marrow stem cells into the body. These cells replace cells hurt by chemotherapy and other treatments.

For myelofibrosis, the healthy bone marrow stem cells come from a donor. A transplant using donor cells is called an allogenic stem cell transplant.

Before the transplant, you receive chemotherapy or radiation therapy treatments to destroy your bone marrow. The healthy stem cells from a donor are put in your body.

This treatment has the potential to cure myelofibrosis. It also has a high risk of life-threatening side effects. This treatment isn't an option for everyone with myelofibrosis.

Palliative care

Palliative care is a special type of healthcare that helps people with serious illnesses feel better. If you have cancer, palliative care can help relieve pain and other symptoms. A team of healthcare professionals gives palliative care. This can include doctors, nurses and other specially trained health professionals. Their goal is to improve quality of life for you and your family.

Palliative care specialists work with you, your family and your care team to help you feel better. They provide an extra layer of support while you have cancer treatment. You can have palliative care at the same time as strong cancer treatments, such as surgery, chemotherapy or radiation therapy.

When palliative care is used along with all of the other treatments, people with cancer may feel better and live longer.

Coping and support

A myelofibrosis diagnosis can cause strong feelings. Some people say they felt shocked, scared or sad when they got their diagnosis. With time, each person finds a way to cope with these feelings. Until you find what works for you, here are some ideas to help you cope.

Learn enough about your condition to feel comfortable making decisions

Learn as much as you need to about myelofibrosis. Ask your healthcare team to recommend some good sources of information to get you started. As you learn more about your condition, you might feel more confident about making decisions about your care.

Find a good listener

Finding someone who is willing to listen to you talk about your hopes and fears can be helpful as you manage a cancer diagnosis. This could be a friend or family member. A counselor, medical social worker or clergy member also may offer helpful guidance and care.

Consider joining a support group, either in your community or on the internet. A support group of people with cancer can be a source of useful information, practical tips and encouragement.

Take time for yourself

If you have myelofibrosis, you may have a lot of medical appointments. Some days, you may feel sick even if you don't look sick. And some days, you may just be sick of having cancer.

Try to set aside time each day for something you enjoy. Find ways to relax. Some people have hobbies that help them take their minds off of cancer for a little while.

Preparing for an appointment

Make an appointment with a doctor or other healthcare professional if you have any symptoms that worry you. If your healthcare professional thinks that you have myelofibrosis, that person may refer you to a specialist. Often, this is a doctor who specializes in blood diseases, called a hematologist.

Appointments can be short and being prepared can help. Here's some information that may help you get ready.

What you can do

When you make the appointment, ask if there's anything you need to do in advance, such as fasting before having a specific test. Make a list of:

• Your symptoms, including any that don't seem related to the reason for your appointment.
• Key personal information, including major stresses, recent life changes and family medical history.
• All medications, vitamins or other supplements you take, including the doses.
• Questions to ask your doctor.

Take a family member or friend along, if possible, to help you remember the information you're given.

For myelofibrosis, some basic questions to ask your doctor include:

• Do I have cancer?
• Do I need more tests?
• What are my treatment options?
• What are the potential risks of these treatment options?
• Do any of the treatments cure my cancer?
• Can I have a copy of my pathology report?
• How much time can I take to consider my treatment options?
• Are there brochures or other printed materials that I can take with me? What websites do you recommend?
• What would happen if I chose not to have treatment?

Don't hesitate to ask other questions.

What to expect from your doctor

Your healthcare professional is likely to ask you several questions, such as:

• When did your symptoms begin?
• Have your symptoms been continuous or occasional?
• How bad are your symptoms?
• What, if anything, seems to improve your symptoms?
• What, if anything, seems to worsen your symptoms?