What are myeloproliferative neoplasms (MPNs)?
Myeloproliferative neoplasms (MY-ah-lo-pro-LIF-er-uh-tiv NEE-o-plaz-uhms), or MPNs, are a group of rare, chronic blood cancers in which a person’s bone marrow does not function properly. Bone marrow is a spongy tissue inside of the bone, and is the primary place where blood cells are made. In people with MPNs there is an abnormal production of these blood cells. This can cause a host of symptoms and complications.
Are MPNs cancer?
Once known as myeloproliferative disorders (MPDs), myeloproliferative neoplasms were renamed and officially classified as cancers of the bone marrow in 2008 by the World Health Organization.
Myeloproliferative neoplasms, or MPNs, are a group of rare, chronic blood cancers in which a person’s bone marrow does not function properly. "Myelo" means bone marrow. The term "proliferative" means growing and refers to cells reproducing quickly and making too many. A neoplasm is an abnormal growth of cells that are produced when there is more cell division than normal or when cells do not die when they are supposed to.
Are MPNs hereditary?
Although research is ongoing, MPNs are generally not considered to be inherited diseases, meaning they cannot be passed down through families.
Are MPNs curable?
MPNs are considered to be chronic blood cancers and generally do not go away on their own. It is important to talk with your Healthcare Professional about your individual MPN management options.
What causes MPNs?
While the exact cause is unknown, scientists believe that mutations, or changes in certain genes, are thought to be a major cause of what are known as Philadelphia chromosome–negative MPNs, or "classical" MPNs, including polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF). These gene mutations are thought to cause abnormal changes in the stem cells within the bone marrow, in turn affecting the number of blood cells produced.
What is the Philadelphia chromosome?
MPNs can be classified based on the presence or absence of a chromosomal abnormality called the Philadelphia chromosome. The three most common Philadelphia chromosome–negative MPNs are:
Who is affected by MPNs?
MPNs can affect people at any age, but they are more commonly diagnosed in older adults.
- PV is more common in people over 60 years of age. It affects slightly more men than women.
- ET is most common in adults older than 50 years of age. It is more common in women than men.
- MF is more common in people over the age of 50
What questions should a newly diagnosed MPN patient ask their HCP?
As an MPN patient, it’s important to be your own best advocate. You can do this by doing your own research, educating yourself about your MPN and asking lots of questions. The specific questions you ask your Healthcare Professional may vary depending on the type of MPN you have and the specific symptoms you may experience. As a new member of the MPN community, the following questions can help you get the conversation started:
- What does my diagnosis mean?
- How common is this?
- What can I expect?
- What are potential complications of my condition?
- What are my MPN care management options?
- What do you feel is the best course of action for me?
- How can I learn more about my condition?
- How will my MPN be monitored?
- How often will I need to be monitored?
- How often do you want to see me?
- What types of tests or procedures will I need to have?
- How many patients do you see who have been diagnosed with an MPN?
- What information do you want me to keep track of?
- What symptoms or problems do you want to know about right away?
- What should I do if I start feeling overwhelmed by my MPN?
How do I know if I need an MPN specialist?
Seeking out an MPN specialist, or a Healthcare Professional experienced in treating MPNs, may provide you with access to different medical resources and facilities. An MPN specialist might be a hematologist, or an oncologist, or could have expertise in treating both blood diseases and cancer. As part of your care team, an MPN Specialist can partner with your Healthcare Professional. This can be important, as he or she may offer more detailed information about your condition. Some reasons to consider seeing a specialist might be:
- You want another opinion about your diagnosis or care management plan.
- You want to explore specialized care management options.
- Your current doctor has limited experience with your condition.
When should I get a second opinion?
During the course of your care, it is important to see a doctor who specializes in treating blood disorders or blood cancers. For more information about when to get a second opinion, watch this video from physician assistant Amber Essenmacher
What are common MPN symptoms?
Every MPN journey is unique, and while some people may have symptoms that are severe, others may have none at all. Some common MPN symptoms may include:
- Fatigue (tiredness)
- Problems concentrating
- Early feeling of fullness with eating (early satiety)
- Abdominal pain or discomfort
- Unintentional weight loss (in the last 6 months)
- Itching (especially after a warm shower)
- Bone pain (diffuse pain, not joint pain or arthritis)
- Fever (>100 °F)
- Night sweats
Why can blood counts vary so much from test to test?
Small variations in blood count levels can occur even in people who aren’t affected by MPNs. Because your bone marrow affects the production of blood cells, it’s important to discuss any changes in your blood counts with your Healthcare Professional. If your blood tests reveal major ups or downs in your blood count levels, be sure to have this evaluated by your Healthcare Professional.
What is polycythemia vera (PV)?
Polycythemia vera, or PV, is a rare, chronic blood cancer in which your bone marrow produces too many red blood cells. You may also have too many white blood cells and platelets (blood clotting cells) in your blood, but having too many red blood cells causes most of the problems associated with PV.
Too many red blood cells can cause your blood to thicken, causing various symptoms. Thick blood can also raise your risk for serious problems such as blood clots, which may lead to a heart attack or stroke. It’s important to discuss with your Healthcare Professional what things you can do to help manage your risk of complications.
Is PV cancer?
Yes. Polycythemia vera, or PV, is a rare, chronic blood cancer that is part of a group of diseases called myeloproliferative neoplasms, or MPNs.
How many people are affected by PV?
Approximately 100,000 people in the United States are living with PV.
What are common PV symptoms?
Every PV journey is unique. And while some people with PV may not have symptoms, others may have severe symptoms that interfere with their daily lives. PV symptoms may include:
- Tiredness (fatigue)
- Itching (especially after a warm shower)
- Sweating (at night or during the day)
- Blurred vision or blind spots
- Painful burning or numbness of the hands or feet
- Bleeding from the gums and heavy bleeding from small cuts
- Bone pain
- Shortness of breath
- Abdominal pain or discomfort
- Early feeling of fullness when eating
- Pain under the left ribs
- Problems concentrating
- Dizziness, vertigo, lightheadedness
- Reddening of the face, or a burning feeling on the skin
- Angina (chest pain)
- Ringing in the ears
Why does PV cause itching, or pruritus?
In PV, the overproduction of certain proteins called "cytokines" can cause inflammation. When your body has too many of these cytokines, you may experience various symptoms related to your PV, including itching, night sweats, and some other symptoms of PV.
Can PV cause bone pain?
Bone pain is among the common PV symptoms that may be experienced.
How is PV diagnosed?
Polycythemia vera (PV) may develop slowly and remain unrecognized for years. PV is often diagnosed by chance, following a routine exam by a Healthcare Professional. Often, PV is found during a blood test done for some other reason. In 30% of cases, however, PV is diagnosed after a cardiovascular event. Signs such as an enlarged spleen and symptoms such as tiredness, itching, and sweating at night may also suggest PV.
If your Healthcare Professional suspects you have polycythemia vera (PV), you will likely have blood tests, bone marrow tests, and genetic tests done to confirm the diagnosis.
Is PV inherited?
About 95% of people with polycythemia vera have a specific mutation, or change, in the JAK2 (Janus-associated kinase 2) gene. Genetic tests can show whether or not you have this mutation or other less common mutations found in people with PV.
The gene mutations associated with PV are not thought to be inherited. They are “somatic” changes, which means that they are acquired during a person’s lifetime and not passed on to children.
Who gets PV?
PV can occur at any age, but it is more commonly diagnosed in people over 60 years of age. It affects slightly more men than women.
How common is PV?
Approximately 100,000 people in the United States are living with PV.
Does PV always transform into myelofibrosis (MF)?
PV is a progressive disease, which means that it can change or worsen over time. Between 10% and 15% of myelofibrosis cases begin as either PV or essential thrombocythemia (ET).
Does everyone with PV have high counts of both white and red blood cells?
Because PV is a trilineage disorder, it can affect all three blood cell lines, including red blood cells, white blood cells, and platelets. How PV presents in each person is unique and will vary by individual. While some people with PV may just have high red blood cells, others may have various combinations of elevated red blood cells, white blood cells, or platelets.
How long can you live with PV?
Although not curable, PV can usually be managed effectively over the course of the disease. Each individual journey with PV is unique, and how PV may change over time will vary from person to person. Median survival for people with PV may approach 20 years or longer, depending on the individual and his or her specific management approach. However, PV can worsen (progress), and in some cases, transform into myelofibrosis.
How is PV monitored?
Healthcare Professionals monitor PV with regular blood tests. People with PV can take an active role in monitoring their condition by tracking the symptoms of PV. Regular monitoring and medical care can help detect any changes in the condition. New or worsening symptoms should be reported to a Healthcare Professional.
What is essential thrombocythemia, or ET?
Essential thrombocythemia (ET) is a rare, chronic blood cancer in which a person’s bone marrow makes too many blood platelets (also known as thrombocytes). About half of people with ET have a specific mutation—or change—in a certain gene within the body.
Is ET cancer?
Yes. ET is a rare, chronic blood cancer in which a person’s bone marrow makes too many blood platelets (also known as thrombocytes). It is part of a group of diseases called myeloproliferative neoplasms, or MPNs.
What are common ET symptoms?
Many people with essential thrombocythemia (ET) have no symptoms. They may not know they have the condition until it is diagnosed after a routine lab exam, or they develop a blood clot. Symptoms of ET depend on where the clot forms and may include:
- Dizziness or light-headedness
- Chest pain
- Vision changes that eventually go away
- Numbness or tingling in the hands and feet
- Redness, throbbing, and burning pain in the hands and feet
- Mildly enlarged spleen
How common is ET?
Approximately 71,000 to 88,000 people in the United States have ET. Essential thrombocythemia is most common in adults older than 50 years of age. It is more common in women than men.
Can ET transform to another MPN?
ET is a progressive condition, which means that it may change or get worse over time. In some cases, ET can transform into myelofibrosis (MF).
What causes ET?
The exact cause of ET is not known. But about half of all people with this condition have a mutation—or change—in a certain gene called JAK2 (Janus-associated kinase 2) that normally helps the body produce blood cells. Mutations of other genes have also been linked to ET.
How is ET diagnosed?
ET can be diagnosed through a number of blood tests and/or bone marrow tests. Some of the blood tests that are used to help confirm a diagnosis of ET include a complete blood count (CBC) or blood smear. Your Healthcare Professional may also order genetic tests, as well as additional blood tests (such as iron levels) to rule out other causes of your high platelet count. A bone marrow aspiration or bone marrow biopsy may also be performed.
What factors could affect the course of ET?
Some of the factors that can affect the course or outcome of ET include a person's age, whether or not the person has a history of a blood clot, and if the person has cardiovascular risk factors, like diabetes or high blood pressure.
How is ET monitored?
In patients under 60 who have no symptoms or other risk factors for blood clots, Healthcare Professionals may monitor for ET through routine checkups. In patients over 60 who have had blood clots, Healthcare Professionals may prescribe medicine to lower platelet counts.
How long can you live with ET?
ET typically doesn’t shorten life expectancy. However, each individual journey with ET is unique, and how it may progress or transform over time can vary from person to person. In many cases, people can live with ET for a very long time. However, in some cases ET can transform into myelofibrosis (MF).
Your specific medical situation should be evaluated by your Healthcare Professional, who is the best source of information about life expectancy with ET.
Why do people with ET need to be careful of blood clots?
In people with ET, the bone marrow makes too many platelets (also known as thrombocytes), making it hard for the blood to flow. Platelets travel through the body’s blood vessels. When a person damages a blood vessel—through a cut, for instance—platelets stick together to form clots and stop the bleeding. In people with ET, unnecessary clots may form. Less often, a high number of platelets can also cause bleeding problems.
Is stinging, burning, and throbbing pain in the hands and feet a common symptom of ET? And how common is this with ET?
Stinging, burning, and throbbing pain can be symptoms of ET or related to other conditions. You should bring these symptoms to the attention of your Healthcare Professional.
What is myelofibrosis (MF)?
Myelofibrosis, or MF, is a rare, chronic blood cancer or bone marrow cancer. Bone marrow is a spongy tissue inside of the bone, and is the primary place where blood cells are made. People with MF have a defect in their bone marrow that results in an abnormal production of blood cells, causing scar tissue to form in the bone marrow.
Is MF cancer?
Myelofibrosis is a rare, chronic blood cancer that is part of a group of diseases called myeloproliferative neoplasms, or MPNs. Healthcare Professionals sometimes call this condition a bone marrow cancer or blood cancer. People with MF have a defect in their bone marrow that results in an abnormal production of blood cells, causing scar tissue to form.
What are common MF symptoms?
About one-third of people in the very early stages of MF do not have any symptoms of MF. However, for those people who do have MF symptoms, they may experience:
- Excessive night sweats
- Bone pain
- Bruising or bleeding easily
Remember, you may have some of these symptoms but not others, as this condition is different for everyone.
What MF symptoms are associated with an enlarged spleen?
When the bone marrow cannot make enough normal blood cells, the spleen begins to make them. This causes the spleen to grow larger. An enlarged spleen is a common finding in myelofibrosis. The medical term for an enlarged spleen is splenomegaly (splee-nuh-MEG-uh-lee). Symptoms caused by an enlarged spleen can include:
- Pain or discomfort in the abdomen or under the left ribs
- Feeling full when you haven’t eaten or have eaten very little (early satiety)
How many people with MF will have an enlarged spleen?
About 90% of people with MF have an enlarged spleen at diagnosis.
Can MF be cured?
Currently, there is no drug therapy that can cure MF. An allogeneic stem cell transplant is the only potential cure for MF. Your Healthcare Professional can discuss whether transplant is an option for you.
Why does MF cause splenomegaly?
In people with MF, the bone marrow cannot make enough normal blood cells. As a result, the spleen begins to make them. This causes the spleen to grow larger. An enlarged spleen is a common finding in myelofibrosis.
What causes MF?
Although the exact cause of MF is unknown, scientists think that the condition may be related to changes in certain genes called mutations. These mutations can cause what is known as overactive JAK signaling. About half of people with MF have a mutation of the Janus-associated kinase 2 (JAK2) gene. However, even if you don't have the JAK2 mutation, you can still have overactive JAK signaling and MF. Other types of mutations also occur in MF and may contribute to overactive JAK signaling. MF is not believed to be an inherited disease and there is no known prevention.
What is primary myelofibrosis?
MF can result from a progression of other bone marrow diseases or it can occur on its own. When MF occurs on its own, without a prior known bone marrow disease, this is known as primary MF.
What is secondary myelofibrosis?
When MF results from a transformation of other bone marrow diseases, this is known as secondary MF. Between 10 and 15 percent of MF cases begin as either PV or ET.
How is MF diagnosed?
In addition to reviewing your medical history and performing a physical exam, your Healthcare Professional will perform a complete blood count (CBC) in addition to ultrasound or magnetic resonance imaging (MRI), to help make a diagnosis. He or she may also order genetic tests and/or a bone marrow biopsy.
What is the life expectancy of someone with myelofibrosis?
Each individual journey with MF is unique, and your medical situation should be evaluated by your Healthcare Professional, who is the best source of information about life expectancy with MF.
Factors that may be used to help Healthcare Professionals estimate survival can include:
- Symptom burden
- Blood counts (including hemoglobin, white blood cells, and circulating blast cells)
Prognosis is based upon your individual risk level. Your medical situation should be evaluated by your Healthcare Professional, who is the best source of information about life expectancy with MF.
Does MF run in families?
Although research is ongoing, MF is not considered to be an inherited disease, which means that it is not thought to be passed down through families.
What is post–essential thrombocythemia myelofibrosis?
When MF results from a transformation of ET, this is known as post–essential thrombocythemia myelofibrosis, or PET-MF.
Does MF cause bone pain?
Bone pain is among the symptoms commonly experienced with MF.
What is post–polycythemia vera myelofibrosis?
When MF results from a transformation of PV, this is known as post–polycythemia vera myelofibrosis, or PPV-MF.