Scientists discover rare genetic condition that attacks kids’ immune systems
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 a bone 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) or ropeginterferon alfa-2b-njft (Besremi) 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.
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 IS DIABETES?
What makes someone's body go so haywire?Diabetes undercuts one of the most basic functions of our bodies—our ability to store sugar into our cells. The cause: either the pancreas stops producing insulin, the hormone that manages our blood sugar levels, or the body becomes unable to properly use the insulin. Without enough insulin, our bodies can't store the sugar in fat, muscles, and other cells to use as energy. The extra sugar flowing through our blood vessels eats away at our organs, and myriad health problems emerge. This complex cause and effect is not well understood by the public. People with diabetes are often blamed for their disease, even though the disease is biological. Such shaming doesn't happen with other diseases, such as cancer, heart disease or other medical conditions.
Does diabetes affect all ages and races?Yes. Statistically, Native Americans, African Americans, Latinos and Asian Americans have a higher rate of diabetes than the white population. But our genes do not work in a vacuum, and diabetes is not predestined for any racial group. Communities where newcomers are eating highly processed American diets for the first time are especially vulnerable. Diabetes also can be related to poverty, which is usually accompanied by less access to fresh whole foods, exercise and health care.
Do bad eating habits cause diabetes?Not everyone who consumes a lot of sugar gets the disease. But processed, sugary drinks and foods are certainly part of the problem. Some companies target communities of color with ads for sodas and high-sugar snacks. In these communities of color, people may also have limited access to healthy foods. And many of us, in all communities, are living increasingly sedentary lives.
Aren't there two types of diabetes?Yes, there are two types of diabetes, and they are both complex and can be difficult to manage. In Type 1 diabetes (formerly known as "juvenile diabetes") the immune system attacks and destroys the part of the pancreas that makes insulin. Scientists believe the attack may be genetic or triggered by a virus or other environmental factors. With Type 2 (formerly known as "adult-onset diabetes"), which accounts for about 95 percent of diabetes cases, the body resists the insulin the pancreas produces, and over time insulin production fails. Type 2 is triggered by many factors: the person's genes, their environment, getting too little exercise, gaining too much weight and eating too much highly processed, sugary food. Both types are skyrocketing, and both are occurring at younger and younger ages.
What happens if someone's blood sugar levels are too high or too low?Blood sugar levels can drop precipitously from some diabetes medications and cause a whole range of symptoms, including loss of consciousness. Low blood sugar can be fatal. High blood sugar—essentially a state of untreated diabetes—can put a person in immediate danger and also cause long-term nerve and organ damage.
Will diabetes go away if a person takes insulin?People with Type 1 diabetes and some people with Type 2 use insulin, but it is not a cure; it is a treatment that is replacing what the pancreas should produce. Type 2 diabetes can also be treated with other medications, diet changes and weight loss, but again, this is treatment, not a cure.
Is diabetes a new disease?Records of diabetes go back to the pharaohs. One ancient papyrus describes treating the disease with seeds, honey and yellow ochre clay. There were no better treatments until 1921, when insulin was discovered.
What are the first signs that a person might have diabetes?One of the most common signs is frequent urination, along with unquenchable thirst, sugar cravings, and general malaise.
What are the new methods or treatments?Diabetes costs the U.S. More than $325 billion a year, but public funding for the disease does not match the disease burden. Even with the limited funding, there are promising new ways to treat the disease. Some of the most exciting treatments, still in early stages, are aimed at diabetics who require insulin: devices that are called an "artificial pancreas," an "autonomous insulin delivery" (AID) device, or a "closed loop" system. These systems use communication between three small portable devices -- a continuous glucose monitor, a smart phone and an insulin pump -- to take over monitoring and dosing the person's insulin needs. The system checks and adjusts insulin doses every five minutes, eliminating hundreds of decisions that most people with diabetes have to make every day.
Daphne Northrop, editorial project manager at WGBH in Boston, is a broadly published author and editor who specializes in education and health.
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