Anemia in the pediatric patient
Polycythemia Vera (PV): Symptoms, Causes, Diagnosis, And Treatment - WebMD
Polycythemia vera (PV) is a blood cancer that begins in the marrow of your bones, the soft center where new blood cells grow. It causes your marrow to make too many red blood cells so your blood is too thick. You may be more likely to have clots, a stroke, or a heart attack.
This disease gets worse slowly, usually over many years. It can be life-threatening if you don't get treatment, but the right care can help you live a long life.
Most people who have PV don't get diagnosed until they're 60 or older, usually after a routine blood test. But it can happen at any age. Men get it more often than women.
It's common to worry when you find out that you have cancer. Remember that everyone is different and that all cancers aren't the same. With the support of your doctor, family, friends, and other people who have polycythemia vera, you'll be in the best position to manage it.
Your bone marrow makes three types of blood cells:
Red blood cells carry oxygen, white ones fight infections, and platelets clot your blood to stop bleeding.
Most people with polycythemia vera have too many red blood cells. But it can also cause you to have too many white blood cells and platelets.
PV is caused by a gene (either JAK2 or TET2) that doesn't work the way it should. Most likely, the problem develops over the course of a person's life.
Is polycythemia vera hereditary?
PV is usually not inherited; however, parents can pass these affected genes to children. In rare cases, polycythemia vera risk may run in families.
At first, you may not notice any problems. When they do show up, polycythemia vera symptoms can include:
You may also feel pressure or fullness below your ribs on your left side. This might mean PV has enlarged your spleen, an organ that helps filter your blood.
Polycythemia vera leg pain
Blood clots are one possible complication of polycythemia vera. When a blood clot forms in the legs, it's called deep vein thrombosis (DVT). This can cause pain and swelling in the legs.
Polycythemia vera end-stage symptoms
At the end stage, also known as the "spent phase," of the disease, your bone marrow stops making healthy blood cells. This happens because the abnormal blood cells overtake your bone marrow, where they break down and are replaced with scar tissue.
Too much scar tissue can prevent your bone marrow from doing its job: making healthy red blood cells. This can increase your risk of anemia. You may need blood transfusions to help make sure your body has enough healthy blood cells. The spleen can become swollen and painful during this stage and may need to be removed through surgery.
If left untreated, PV can become deadly.
It can cause blood clots , which can lead to a heart attack, a stroke, a pulmonary embolism, or deep vein thrombosis (DVT). They might also make your liver or spleen larger. If your organs don't get enough blood, you could have chest pain or heart failure.
Having too many red blood cells might cause stomach ulcers, gout, or kidney stones. PV can also lead to more serious blood diseases such as acute leukemia or myelofibrosis.
Polycythemia vera blood clots
If you have PV, there are too many red blood cells trying to move through your body. This makes your blood thicker, causing it to flow more slowly. Your platelets — blood cells that help with clotting — can also become irregular. All of this makes blood clots more likely to form, which in turn can lead to other dangerous complications, including stroke, heart attack, and organ damage. Blood clots can also block arteries in your lungs, leg muscles, or abdomen.
Polycythemia vera and leukemia
In about 3% of people with polycythemia vera, the disease changes into acute myeloid leukemia. Leukemia happens because the bone marrow makes immature cells too quickly. These cells can spread throughout the body and block healthy blood cells from growing.
Polycythemia vera and myelofibrosis
Myelofibrosis is a type of blood cancer that's very similar to the end stages of polycythemia vera. It happens because too many abnormal cells break down in the bone marrow, replacing bone marrow with scar tissue. The abnormal cells can also reach other organs in your body. About 5%-6% of people with polycythemia vera develop myelofibrosis within the first 10 years of being diagnosed.
Your doctor will start with a physical exam, including a check of your spleen. They'll ask about your symptoms and see if your face is unusually red.
Polycythemia vera tests
A few different tests can help determine if you have polycythemia vera.
Blood tests. Blood tests can check if your red blood cell count is high. An unusually high number of any of these could be a sign of polycythemia vera.
Your doctor might also test your blood for a hormone called erythropoietin, which helps your body produce red blood cells. People who have polycythemia vera have very low amounts of it.
Molecular testing. This uses a sample of your blood, tissue, or body fluid, which can show a JAK2 gene mutation linked to polycythemia vera.
Bone marrow biopsy
Based on your blood and molecular tests and symptoms, your doctor might want to do abone marrow biopsy.This test collects small amounts of solid and liquid bone marrow through a thin needle. The sample is usually taken from the back of your hip, while you lie on your stomach. Your doctor will use local anesthesia and possibly light sedation.
The results can show your doctor if your bone marrow makes too many blood cells.
Questions for your doctor
It's normal to feel nervous before and during a doctor's appointment. To ease your mind, make a list of questions beforehand and bring it with you. This can also ensure that you don't forget what you wanted to ask your doctor. Here are some questions you may want to ask:
If you don't have many PV symptoms, you might not need treatment right away. Your doctor will keep a close watch on you.
If you do need treatment, it will be aimed at lowering the amount of red blood cells your body makes and preventing blood clots and other complications.
Your options include:
Phlebotomy
This is often the first treatment for people with polycythemia vera.
Phlebotomy is just like donating blood. Blood is taken from a vein to help reduce the volume of blood and the number of blood cells in your body. This makes your blood thinner, preventing it from clumping in blood vessel walls. Phlebotomy can help relieve symptoms such as headaches, vision problems, itchiness, dizziness, and ringing in the ears.
Your doctor will decide how often you need phlebotomy. Some people with PV don't need any other treatment for many years.
Low-dose aspirin
Your doctor might prescribe a low dose of aspirin (usually 81 milligrams). Aspirin can help stop platelets from sticking together and forming clots. This can help prevent blood clots, heart attacks, and strokes. Aspirin can cause side effects such as stomach upset and heartburn.
Most people with polycythemia vera take low-dose aspirin.
Medicine to lower blood cells
If you have polycythemia vera, your doctor might prescribe medicines to help lower the amount of blood cells in your body. These include:
Busulfan. You might take busulfan (Busulfex, Myleran) or ruxolitinib (Jakafi) if hydroxyurea isn't helpful or if it causes severe side effects. It can bring your blood cell counts back to normal and help control the JAK2 mutation.
Hydroxyurea (Droxia, Hydrea). This medicine limits how many blood cells your bone marrow produces.
Interferon alfa. Interferon alfa (Intron A) is injected. It may help control the JAK2 mutation and get blood cell counts back to normal. It can be taken early in the disease to prevent it from progressing.
Ropeginterferon alfa-2b-njft (Besremi). Given by injection every two weeks, ropeginterferon alfa-2b-njft is the first interferon therapy specifically approved for polycythemia vera. It attaches to interferon alpha/beta receptors (IFNAR), triggering several reactions that cause the bone marrow to produce fewer red blood cells.
Ruxolitinib. This is a type of kinase inhibitor, a medicine that blocks enzymes linked to certain cancers. Many people with polycythemia vera have a mutation in the JAK2 protein. Ruxolitinib causes changes to JAK2 and JAK1, which helps curb the production of red blood cells. It's an alternative option to hydroxyurea. It may be prescribed for secondary myelofibrosis.
If you have itching that doesn't go away, your doctor may give you antihistamines.
There are things you can do every day to help manage polycythemia vera symptoms.
Stay hydrated. This is even more important if you have thicker blood.
Stop smoking. Smoking increases your risk of blood clots.
Exercise. Exercise can help boost your fitness and mood, keep your heart healthy, and help your circulation. If you have fatigue, start with gentle exercise, such as walking, yoga, or gardening. Also, doing leg and ankle exercises can help keep clots from forming in the veins of your legs.
Manage itchiness. Itching is common in people with polycythemia vera. It can help to take warm or cool showers, instead of very hot showers. Be sure to pat your skin dry, rather than rubbing dry.
Eat a balanced diet. Make sure to eat enough healthy carbohydrates, lean protein, fresh fruits and vegetables, dairy products, fiber, and healthy fats. Iron-rich foods, such as liver, are also recommended for polycythemia vera.
Bathe at the right temperature. Bathe or shower in cool water if warm water makes you itch.
Keep your skin moisturized. Use hydrating lotion, and try not to scratch.
There's no cure, but the right treatment can help you manage this disease for many years.
Talk to your friends and family about what you're dealing with. You may also want to join a support group for people who've been in your position.
The MPN Research Foundation has more information about polycythemia vera. It can also help you find support groups.
Polycythemia vera is a blood cancer that causes your bone marrow to make too many red blood cells. It can cause complications like blood clots and anemia, but treatments are available. In rare cases, polycythemia can change into other diseases, such as leukemia and myelofibrosis.
What is the life expectancy with polycythemia vera?
The average life expectancy with polycythemia vera is 20 years after diagnosis.
Is polycythemia vera cancer curable?
There's no cure for polycythemia vera, but it can be managed with medication.
What does PV itching feel like?
You might feel itchy after taking a hot shower or bath. PV can also cause your face to redden and feel a burning sensation.
What are the final stages of polycythemia vera?
In the final stages of polycythemia vera, your bone marrow stops producing healthy cells and is replaced with scar tissue.
What Does A Blood Cancer Diagnosis Mean?
Your diagnosis of an early-stage blood cancer, such as a MPN or MDS, means that something has changed in the way your bone marrow produces blood cells.
Your diagnosis of an early-stage blood cancer, such as a myeloproliferative neoplasm (MPN) or a myelodysplastic syndrome (MDS), means that something has changed in the way your bone marrow produces blood cells. The bone marrow is the soft, spongy tissue inside your bones where all blood cells are made. In these conditions, the bone marrow's "factory" is not working as it should.
In an MPN, the bone marrow overproduces one or more types of blood cells like red blood cells, white blood cells, or platelets. This can lead to conditions like Polycythemia Vera, which involves too many red blood cells, or essential thrombocythemia, which is an overproduction of platelets. These are often chronic diseases that progress slowly.
In an MDS, the bone marrow produces blood cells that are not formed correctly and do not function as they should. These abnormal cells often die early, leading to low blood counts (cytopenias), such as anemia (low red blood cells). While MDS can be stable for many years, it can sometimes progress to a more aggressive form.
These early-stage conditions are often managed differently from more advanced cancers. The focus is on controlling symptoms and monitoring the disease, rather than on aggressive treatments that may not be necessary.
What are the Symptoms of Blood Cancer? How is it Diagnosed?Diagnosis is a critical first step that helps your healthcare team understand the specific type of blood cancer you have. It often begins with routine blood work and a physical exam, but it requires several specialized tests to confirm.
Complete Blood Count: This is a standard blood test that measures the number and type of blood cells in your body. It can show high or low counts that may indicate a bone marrow issue.
Peripheral Blood Smear: A technician examines a drop of your blood under a microscope to check the shape, size, and appearance of your blood cells for any abnormalities.
Bone Marrow Aspiration and Biopsy: This is a key diagnostic test. A small sample of bone marrow is taken, usually from the hip bone, to be examined by a pathologist for abnormal cells and to assess the overall health of the marrow.
Cytogenetic and Molecular Testing: Specialized tests are performed on the bone marrow or blood sample to identify specific gene mutations and chromosomal abnormalities, such as the JAK2 mutation in MPNs or specific changes in MDS. The results of these tests are crucial for confirming the diagnosis and guiding your treatment plan.
How Do Doctor's Treat Blood Cancer?For early-stage disease, treatment is highly personalized. The goal is to manage symptoms, prevent complications, and maintain a high quality of life. Unlike more aggressive cancers, treatment may not involve immediate chemotherapy.
For MPNs"We are developing — and continue to develop — new therapies for polycythemia vera. Even though it's a rare disease, it's still a very important condition, especially for the people who have it," Dr. Aaron Gerds, of the Cleveland Clinic Taussig Cancer Institute, explained in an interview with CURE.
The field of blood cancer research is evolving rapidly. There are many new therapies in clinical trials, including drugs that target specific genetic mutations and immunotherapies. For some patients with a high-risk diagnosis, a bone marrow or stem cell transplant may be considered as a potentially curative option.
The evolving treatment landscape for patients with polycythemia vera. This video provides additional context on the JAK inhibitors and how they are changing treatment approaches for MPNs.
Your treatment plan will be carefully tailored to your specific diagnosis, symptoms, and overall health.
What Side Effects Occur During Blood Cancer Treatment?Like any medical treatment, therapies for blood cancers can cause side effects. It is important to discuss these with your oncologist, as most can be managed with supportive care.
Fatigue: This is a very common side effect of both the disease itself and the treatments. It is important to listen to your body and rest when you need to.
Low Blood Counts: Some treatments can temporarily suppress bone marrow activity, leading to low numbers of red blood cells (anemia), white blood cells (neutropenia), and platelets (thrombocytopenia). This can increase the risk of infections, fatigue, or bleeding. Your doctor may prescribe medications to help.
Gastrointestinal Issues: Nausea, vomiting, diarrhea, or constipation can occur with some medications.
Skin Issues: Rashes or itching can be a side effect of some targeted therapies.
Your Path Forward After a Blood Cancer DiagnosisA diagnosis of a blood cancer can be overwhelming, but it's important to remember that it is a manageable condition. This overview is just the beginning of your journey, and with ongoing research, new and more effective therapies are always being developed.
The most important step you can take is to partner with your healthcare team. Ask questions, share your concerns, and be open about any side effects you experience. This will help your oncologist make the best decisions for your care and ensure you have the highest possible quality of life throughout your treatment.
"There is a group of us who are very invested in this disease and are working hard to develop new therapies for [these diseases]," Gerds emphasized in the interview.
For more news on cancer updates, research and education, don't forget to subscribe to CURE®'s newsletters here.
When Polycythemia Vera Turns Into Another Cancer
If you have polycythemia vera, it means you have a slow-growing blood cancer that can sometimes turn into another, more serious blood cancer. There's no cure, but treatments can help control your symptoms and may lower the chances that it will turn into a disease such as myelofibrosis, myelodysplastic syndrome, or acute myeloid leukemia.
Polycythemia vera affects your bone marrow, the spongy tissue in the center of your bones that makes blood cells. The disease causes your bone marrow to make too many blood cells, which can lead to health problems like sluggish circulation and blood clots.
Polycythemia vera is caused by a genetic change (called a mutation) to your stem cells, which are cells that grow into other types of cells in your body. In this case, the stem cells that have genetic changes are the ones that grow into red blood cells, white blood cells, and platelets. The mutation causes them to divide and grow out of control.
These out-of-control stem cells start to crowd your bone marrow. When they break down, scar tissue forms, which over time damages your bone marrow. This is called the "spent phase."
Research suggests polycythemia vera turns into another blood cancer in less than 20% of cases. It usually happens during the later stages of the disease.
Polycythemia vera treatments help reduce your risk of symptoms and complications. But for some people, the disease still gets worse and turns into another blood cancer, despite treatment.
Because polycythemia vera grows slowly, you may not realize that it has turned into another disease. What's more, many symptoms of other blood cancers are the same as polycythemia vera. They include:
See your doctor if you notice any changes in your symptoms or new health problems.
As part of the care of your cancer, you'll get regular checkups and blood tests. Your doctor can watch for changes, such as those to your spleen or blood cell count, that may be signs of another condition.
To diagnose a new blood cancer, your doctor will order more tests. They may include:
About 10% to 15% of the time, polycythemia vera changes into myelofibrosis. This is called post-polycythemia vera myelofibrosis.
Myelofibrosis is a blood cancer where your bone marrow has so much scar tissue that it can't make enough healthy blood cells. It causes anemia, a condition where your body doesn't have enough red blood cells. It also leads to a large spleen and liver.
Most of the time, myelofibrosis treatments focus on easing your anemia and enlarged spleen. If your disease is slow-growing, you may not need treatment right away.
Anemia treatments include:
Treatments for an enlarged spleen include:
In rare cases, doctors treat myelofibrosis with stem cell transplants. In this procedure, you get chemotherapy or radiation therapy to kill your stem cells. You'll get healthy stem cells from a donor through an IV.
If your polycythemia vera turns into myelodysplastic syndrome (MDS), you now have one of a group of conditions where stem cells in the bone marrow don't work right. They make abnormal blood cells that die earlier than usual. As a result, you may not have enough blood cells in your body. This can set the stage for anemia and other health problems.
You could have also MDS and myelofibrosis at the same time.
MDS treatments can lessen symptoms such as fatigue. They might also help keep the disease from getting worse. For example, it's possible it can turn into acute myeloid leukemia (AML). One in three people with MDS will get AML, but some treatments may lower the chances.
Treatments for MDS include:
One study shows that anywhere from 2% to 14% of the time, polycythemia vera changes into AML within 10 years. In this disease, stem cells in your bone marrow turn into unhealthy blood cells, including white blood cells called myeloblasts. These cells grow out of control, crowding out healthy blood cells.
Your doctor may suggest treatments such as:
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