Do you have too many platelets in your blood? Let's talk about Essential Thrombocythemia!

Have you ever looked at a blood report and noticed that your platelet count is very high? Or have you experienced things like blood clots forming in different places in your body for no reason, or just bleeding? You may not have paid much attention to these things. However, it is very important to be aware of the rare condition that can be behind these things, which we are going to talk about today, called Essential Thrombocythemia.

What is Essential Thrombocythemia? Let's understand it simply.

Simply put, essential thrombocythemia is a condition in which our bone marrow, the main blood-forming factory, produces a type of blood cell called platelets in excess of what is needed. Now you may be asking, "What are these platelets ?" Platelets are the smallest type of cells in our blood. They're like little soldiers. When there's a wound somewhere and bleeding starts, these platelets are the first to rush there, join together, and form a blood clot to stop the bleeding. Imagine, what happens if there's something wrong with the bone marrow, the factory that makes platelets, and these platelets are produced in excess? That's when the problem begins. This condition occurs because of changes in some of the genes in our body, that is, mutations . This is not something that is born with, but something that develops during life. That's why it's called an ``acquired genetic condition.'' Most of the time, the condition is discovered incidentally during a blood test done for another reason. Some people may not have any symptoms at all. Also, not everyone will need treatment right away. Although it can't be cured completely, proper treatment can greatly reduce the risk of serious complications.

How does this affect my body?

Now you understand what happens when the bone marrow makes too many platelets. These extra platelets are not like normal platelets, some are larger than normal and have a slightly different shape. It's like a factory that's producing a batch of inferior goods. These abnormal, extra platelets cause blood clots to form in the blood vessels. These blood clots block the flow of blood, like a traffic jam on a road. These blood clots can form anywhere in the body. But they are most often seen in the brain, arms, and legs.

This condition, especially for pregnant mothers, increases the risk of blood clots .

Another surprising thing is that this condition can sometimes cause excessive bleeding.You might be thinking, "Blood clots are what happens, so how does the blood flow?" The reason is that when there are too many blood clots, all the platelets in the body are used up. Then, there aren't enough platelets to actually stop the bleeding in the event of an injury. See? Because of this, people with essential thrombocythemia are at higher risk of serious conditions like heart attack or stroke.

Is this cancer? Is it related to leukemia?

Yes, essential thrombocythemia is a type of blood cancer. Doctors call it a myeloproliferative neoplasm. Simply put, it is a condition in which a type of blood cell (in this case, platelets) is produced too much. However, it is not exactly a type of blood cancer called leukemia. However, in very rare cases, this condition can develop into leukemia in some people. That is why doctors are always on the lookout for it.

Are essential thrombocythemia and thrombocytosis the same thing?

These two names are somewhat similar, so they can be confused. But there is a difference between the two.

• Essential Thrombocythemia: Here, the platelet count increases due to a problem in the bone marrow itself, not due to any other disease.
• Reactive Thrombocytosis: Here, the platelet count increases as a reaction to another medical condition (e.g., infection, iron deficiency , after surgery).

Of the two, a condition called thrombocytosis is more common than essential thrombocythemia.

Who is more likely to develop this condition?

Essential thrombocythemia is a very rare condition. According to statistics in the United States, it affects about two people in every 100,000. Women are twice as likely to develop it as men. The condition usually affects people between the ages of 60 and 80. However, about 20% of those who develop it are under the age of 40. It is very rare for children to develop it. If they do, it is most likely inherited genetically from their parents.

What are the symptoms of this? How do you recognize it?

Not everyone has the same symptoms. Some people can go for years without any symptoms. Symptoms only start to appear when the platelet count gradually increases. The main symptoms are those caused by blood clots. These can occur in places like the brain, arms, and legs. Symptoms that can occur due to blood clots include:

• Chronic headache .
• Dizziness .
• Burning or throbbing feeling in the palms and soles of the feet.
• Numb or red hands and feet.
• Changes in speech pattern.
• Migraines .
• Seizures .
• Pain or discomfort in the chest, arms, back, neck, jaw, or abdomen.
• Nausea .
• Difficulty breathing (dyspnea).
• Chest pain .
• Weakness .
• Enlarged spleen - an organ located on the upper left side of the abdomen.
• Nosebleed (epistaxis).
• Bleeding gums.
• Blood in stool.
• Blood in the urine (hematuria).
• Bruising easily.
• Women experience heavy menstrual periods.

How does this affect pregnancy?

There is always a risk of blood clots forming in a woman's body during pregnancy. This risk is even higher for a pregnant mother with essential thrombocythemia. Also, some treatments for this condition are not suitable for pregnant women or those planning to become pregnant. Therefore, if you suffer from this condition, it is essential to discuss this with your doctor before thinking about having a child.

Don't forget, this condition can lead to heart attacks and strokes. If you have this condition, you should call 1990 immediately if you experience symptoms of a heart attack or stroke.

Why does this situation occur? What are the reasons?

As we mentioned earlier, this is caused by changes (mutations) in genes. These are not genes that are present at birth, but genes that change during life. Specifically, mutations in three genes that affect the stem cells in our bone marrow that make blood cells are the main cause. These genes are:

• (JAK2) gene: This gene codes for a protein called ``(JAK2)``. This protein helps control the production of blood cells.
• (CALR) gene: This gene codes for a protein called ``calreticulin''. Researchers believe that this plays a role in controlling cell growth, division, and death.
• (MPL) gene: This gene is also known as an ``oncogene'', a gene associated with causing cancer.

When these genes change, the process of making platelets in the bone marrow becomes uncontrolled and too fast. It's like being hit by an accelerator! That's when the body produces more platelets than it can handle.

How do doctors diagnose this? (Diagnosis)

If a doctor suspects you have this condition, they will first do a physical examination . They will also ask about your symptoms and whether anyone in your family has had similar problems. Then, they may do some tests, such as:

• Complete Blood Count (CBC): This checks the levels of all types of cells in your blood, especially the number of platelets.
• Peripheral Blood Smear: This involves taking a blood sample and looking at the platelets under a microscope to see if they are normal or abnormal in shape and size. Abnormal platelets may be larger and have different shapes.
• Bone marrow tests: Sometimes a small sample of bone marrow may be taken for testing (Bone Marrow Aspiration or Bone Marrow Biopsy). This can help to accurately assess the condition of the bone marrow.
• Genetic testing: These tests are done to see if there are mutations in the genes we talked about, such as (JAK2), (CALR), and (MPL).

The results of these tests will help your doctor assess your risk and develop a treatment plan. In general, risk factors for this condition include:

• Being over 60 years of age.
• Being a woman.
• Having had previous blood clots.
• The presence of the aforementioned genetic mutations in the body.

Does everyone need medication for this? What are the treatments?

This is not the same for everyone. For some people, if they have no symptoms, doctors may recommend a strategy called "watchful waiting." This means watching for signs and symptoms to develop. People who have symptoms or are at high risk of developing blood clots will need treatment. Treatment is primarily aimed at preventing blood clots and/or reducing platelet levels. There are several types of medications used for this:

• Aspirin: This prevents blood clots from forming. However, doctors are cautious about giving aspirin to people with very high platelet counts, as it can increase bleeding in people with a condition called acquired Von Willebrand syndrome.
• Hydroxyurea: This is a chemotherapy medication. It lowers platelet levels. It can be given with aspirin for people who are at high risk of blood clots.
• Anagrelide: Like hydroxyurea, this also helps reduce platelet levels and reduce the risk of heart attack and stroke.
• Interferon alfa:This is an immunotherapy. It stops the abnormal platelets from dividing and growing.
• Busulfan: This is also an anticancer drug. It is given to people who do not respond to hydroxyurea or who cannot use it.
• Ruxolitinib: This medicine is used for people who have not responded to other medicines and who also have symptoms such as itching, feeling full even after eating a small amount, and extreme fatigue.

Sometimes, if your platelet levels suddenly increase too much, a procedure called plateletpheresis is used. In this, your blood is connected to a special machine, which removes some of the excess platelets.

Is there a way to prevent this from happening?

Actually, no. This is caused by changes in genes, and there's nothing we can do to prevent those changes from happening. Researchers still haven't figured out why these genes change.

Is it possible to live a normal life with this condition? What is the life expectancy?

You definitely can! Even if you have symptoms, doctors can treat you to prevent serious complications like heart attacks and strokes. Therefore, it is important not to panic and follow your doctor's instructions carefully. When it comes to life expectancy, it is said that people with this condition may have a slightly shorter life expectancy than those without. However, this varies from person to person. Many factors, such as your condition and your health habits, affect this. Therefore, the best way to find out about this is to ask your doctor.

How do I take care of myself? (Self-care)

People with essential thrombocythemia are at increased risk of blood clots and/or abnormal bleeding. There are several things you can do to reduce this risk:

• Avoid smoking completely: People who smoke are at a higher risk of developing blood clots. If you are a smoker, seek help to quit.
• Maintain a healthy weight: People who are obese are at higher risk of developing blood clots. Seek advice from a nutritionist and adopt a healthy eating pattern.
• Exercise regularly: Exercise reduces the risk of blood clots.
• Control other diseases that increase the risk of blood clots: If you have conditions like diabetes mellitus or high blood pressure, control them well.
• Be aware of your overall health: Sometimes this condition can be present without symptoms, so ask your doctor what symptoms to look out for.

When should I see a doctor? When should I go to the emergency room?

If you have this condition, it is very important to go for regular checkups. This will allow your doctor to monitor your condition, check your platelet levels, and make any necessary treatment changes. In an emergency, that meansIf you experience symptoms of a heart attack or stroke, you should call 911 immediately and go to the hospital. Symptoms of a heart attack may include:

• Chest pain or tightness (angina).
• Difficulty breathing.
• Feeling nauseous or having an upset stomach.
• Rapid heartbeat (palpitations).
• A feeling of unease or as if something bad is going to happen.
• Sweating.
• Dizziness (vertigo), blurred vision, or loss of consciousness.

Women may experience different symptoms:

• Excessive fatigue and insomnia.
• Difficulty breathing (dyspnea).
• Pain in the back, shoulders, neck, arms, or stomach.
• Vomiting.

Symptoms of a stroke may include:

• Sudden numbness or weakness on one side of the body (face, arm).
• Sudden difficulty speaking.
• Sudden difficulty seeing in one or both eyes.
• Severe dizziness, difficulty walking, loss of balance.
• A severe headache that comes on suddenly for no reason.

What questions should you ask the doctor?

Because essential thrombocythemia is a rare disease, you may have many questions about it. When you see your doctor, don't hesitate to ask questions like these:

• Why did this happen to me?
• I don't have symptoms right now. When will symptoms appear?
• What does "watchful waiting" mean?
• What medicine do you recommend for me?
• Will I have to take medication for the rest of my life?

Take-Home Message

Okay, so let me tell you this to help you remember some of the most important points from what we've talked about.

Essential Thrombocythemia is a rare, genetic blood disorder in which the bone marrow produces too many blood cells called platelets. This increases the risk of blood clots, heart attacks, and strokes.

Although it cannot be cured completely, with proper medical treatment and your support, you can control this condition well, minimize complications, and live a normal life. Therefore, if you have any doubts about this, or if you have unusual symptoms, seek medical advice immediately. You are not alone, and there are doctors to help you on this journey. Essential Thrombocythemia, Platelets, Blood Clots, Bone Marrow, Blood Diseases, Genetic Mutations, Cancer