Cytogenetics and the evolution of medical genetics
Polycythemia Vera
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.
Polycythemia Vera: Everything You Need To Know
Polycythemia vera is a type of cancer that causes red blood cells to multiply. This can cause blood to flow more slowly and lead to complications, including blood clots.
There's no cure for PV, but you can manage the condition with treatment. Your doctor will likely do routine blood draws and prescribe medication to help prevent serious blood clots. It's important to talk with your doctor if you're at risk of PV and have any of its symptoms.
Read on to learn about PV, what causes it, how to recognize it, and how it's treated.
Polycythemia vera (PV) is a rare type of blood cancer in which your body produces too many red blood cells.
Red blood cells carry oxygen throughout your body. When you have too many red blood cells, your blood thickens and flows more slowly. The red blood cells can clump together and form clots inside your blood vessels.
If it's not treated, PV can lead to life-threatening complications. Blood that flows more slowly can reduce the amount of oxygen that reaches your heart, brain, and other vital organs. Blood clots can completely block blood flow within a blood vessel, causing a stroke or even death.
In the long term, PV can lead to scarring of the bone marrow, known as myelofibrosis, as well as leukemia, another type of blood cancer.
PV might not cause any symptoms for many years. When symptoms first start, they can be mild enough to miss. You might not realize you have PV until a routine blood test picks up the problem.
Recognizing the symptoms early can help you get treatment started and hopefully prevent blood clots and their complications. Common symptoms of PV include:
As the disease progresses and your blood becomes thickened with more red blood cells, more serious symptoms can appear, such as:
Most of these symptoms can be caused by other conditions as well, so getting a proper diagnosis from your doctor is critical.
Polycythemia vera occurs more often in men than in women. You're more likely to get PV after age 60, but it can start at any age.
Mutations (changes) to the JAK2 gene are the main cause of the disease. This gene controls the production of a protein that helps make blood cells. About 95% of people with PV have this type of mutation.
The mutation that causes PV can be passed down through families. But more often, it can happen without any family connection. Research is ongoing into the cause of the genetic mutation behind PV.
If you have PV, your risk for developing serious complications depends on how likely you are to develop a blood clot. Factors that can increase your risk of developing blood clots in PV include:
Blood that's thicker than normal can always increase your risk of blood clots, no matter the cause.
If you think you might have PV, your doctor will first do a test called a complete blood count (CBC). A CBC measures the following factors in your blood:
If you have PV, you'll likely have a higher-than-normal amount of red blood cells and hemoglobin, and an abnormally high hematocrit (the proportion of your blood volume taken up by red blood cells). You may also have abnormal platelet counts or white blood cell counts.
If your CBC results are abnormal, your doctor will likely check your blood for the JAK2 mutation. Most people with PV test positive for this type of mutation.
Along with other blood tests, you'll likely need a bone marrow biopsy to confirm a diagnosis of PV.
If your doctor tells you that you have PV, keep in mind that the sooner you know, the sooner you can start treatment. And treatment reduces your risk of complications from PV.
PV is a chronic condition that doesn't have a cure. However, treatment can help you manage its symptoms and help prevent complications. Your doctor will prescribe a treatment plan based on your risk of developing blood clots.
Treatment for people with a low risk of blood clots
Typical treatment for those at low risk of blood clots includes two things: Aspirin and a procedure called phlebotomy.
Treatment for people with a high risk of blood clots
In addition to aspirin and phlebotomy, people at high risk of blood clots may require more specialized treatment, such as other medications. These can include:
Related treatments
Your doctor may also prescribe other treatments for you. Some of these may help relieve itching, which can be a persistent and bothersome problem for many people with PV. These treatments may include:
Making a few changes to your lifestyle might help you cope with symptoms and reduce your chance of complications.
That said, it's important to speak with your doctor first to make sure these changes are right for you, as every person's needs are different.
Note that eating high-sodium foods can cause your body to shift water into your body's tissues, which can make some of your PV symptoms worse.
Also, drinking enough fluids will help you avoid dehydration and maintain good blood flow and circulation. Your doctor or a registered dietitian can provide individualized guidance on diet and water intake.
While everyone's situation with PV is different, many people who stick to their treatment plan and see their hematologist regularly can expect to live a long life with limited complications.
That said, treatment is critical. People without any treatment can typically expect to survive less than 2 years, depending on age and overall health. But those who have treatment can live several more decades. The median survival rate is 14 years after diagnosis overall, and 24 years for treated people younger than 60.
Your life expectancy also depends on whether or not you develop any complications, and these complications are possible even with treatment, though the risk is much lower. Overall, people who receive treatment have a much better outlook than those without it.
For people with PV, about a quarter developed myelofibrosis and 4% developed leukemia 20 years after diagnosis, according to research from 2021.
Polycythemia vera is a rare blood disease that increases your risk of dangerous blood clots and other complications. It's not curable, but it's treatable. New diagnostic and treatment options are being researched.
If you have polycythemia vera, talk with your primary care doctor or a hematologist about the right treatment plan for you. This will likely include phlebotomy and medications.
Getting the care you need as soon as possible can help prevent blood clots, decrease complications, and improve the quality and length of your life.
Managing Polycythemia Vera To Reduce Risks And Improve Lives
Polycythemia vera is a classic myeloproliferative neoplasm and a chronic type of leukemia, which often leads to overproduction of various blood cells.
Polycythemia vera is a classic myeloproliferative neoplasm and a chronic type of leukemia, which often leads to overproduction of various blood cells. Several medications are approved to treat this condition—among them ruxolitinib (Jakafi; Incyte), in December 2014,1 and ropeginterferon alfa-2b-njft (Besremi; PharmaEssentia), in November 20212—and others remain in clinical development. Rusfertide (Takeda) is currently being investigated in the phase 3 VERIFY trial (NCT05210790), with an estimate study complete date of June 2025.3 The hepcidin mimetic has already received breakthrough therapy, orphan drug, and fast track designations from the FDA.
In this interview, Andrew Kuykendall, MD, clinical researcher at Moffitt Cancer Center and a VERIFY investigator, breaks down how polycythemia vera manifests and common ways to reduce its negative impact on patient quality of life while reducing the risk of clinically worsening events.
This transcript has been lightly edited for clarity; captions were auto-generated.
Transcript
What are the major risks associated with polycythemia vera, and how do they impact patients' quality of life?
Polycythemia vera is really one of these myeloproliferative neoplasms that leads to overproduction of a lot of different blood cells. Patients often present with too many blood cells: white blood cells, red blood cells, [or] platelets. It's really hallmarked by the overproduction of red blood cells. We know that patients with polycythemia vera are at a heightened risk for thrombotic and bleeding events. This is really something that can certainly shorten or reduce the quality of their lives if they endure one of these thrombotic events—be it an arterial event, such as a heart attack, a stroke, a blood clot, [or] a venous event, [which] could be like a pulmonary embolism or something like that—and in addition to this, there's also significant inflammatory symptoms that patients have as well with polycythemia vera, whether it's itching, fevers, chills, night sweats, bone pain, fatigue is another main one.
Really, our focus on treatment of polycythemia vera is to reduce the risk for thrombosis and to optimize quality of life through control of some of these disease-related symptoms. We achieve this in a variety of ways, but one of the main things that we do is we put patients on a baby aspirin and we try to keep their hematocrit—which is the percentage of blood made up by red blood cells—we try to keep that well controlled to kind of thin the blood, if you will. Typically, we've done this historically using therapeutic phlebotomies, where we basically bring patients in repeatedly and take blood from them until their blood counts go down low enough that we feel like they're at less of a risk for some of these thrombotic events.
References
1. FDA approves Jakafi (ruxolitinib) for the treatment of patients with uncontrolled polycythemia vera. News release. Incyte Corporation. December 4, 2014. Accessed March 5, 2025. Https://investor.Incyte.Com/news-releases/news-release-details/fda-approves-jakafir-ruxolitinib-treatment-patients-uncontrolled#:~:text=WILMINGTON%2C%20Del.,and%20progressive%20blood%20cancer1
2. Rosa K. FDA approves ropeginterferon alfa-2b-njft for polycythemia vera. OncLive®. November 12, 2021. Accessed March 5, 2025. Https://www.Onclive.Com/view/fda-approves-ropeginterferon-alfa-2b-njft-for-polycythemia-vera
3. A phase 3 study of rusfertide in patients with polycythemia vera. Clinicaltrials.Gov. Updated July 17, 2017. Accessed March 5, 2025. Https://clinicaltrials.Gov/study/NCT05210790
Comments
Post a Comment