Essential Thrombocythemia: Causes, Symptoms, Diagnosis, Treatment, and Prevention
A blood condition known as essential thrombocythemia (ET) causes your body to produce too many platelets, which help form clots to stop bleeding. Either too many platelets or abnormal clotting can lead to bleeding problems.
Causes of Essential Thrombocythemia
A mutation or change in a gene responsible for the growth of blood cells causes ET. ET is not inherited from your parents, but can develop at any age. Among these genes are JAK2, CALR, and MPL. The mutation causes your bone marrow to produce more platelets than usual. Women and people over 60 years of age are more likely to suffer from it.
Symptoms of Essential Thrombocythemia
Many people with ET do not have any symptoms and are diagnosed by chance during a routine blood test. However, some people may experience:
-
Burning, redness, or tingling in the hands and feet
-
Headache, dizziness, or lightheadedness
-
Chest pain, shortness of breath, or palpitations
-
Vision changes, such as blurred vision or blind spots
-
Bleeding or bruising easily, such as nosebleeds, gum bleeding, or heavy periods
-
Enlarged spleen, which may cause abdominal discomfort or fullness
Diagnosis of Essential Thrombocythemia
To diagnose ET, your doctor will ask you about your medical history and symptoms, and perform a physical exam. You will also need to have some blood tests, such as:
-
Complete blood count (CBC), which measures the number and size of your blood cells, especially platelets
-
Peripheral blood smear, which examines the shape and appearance of your blood cells under a microscope
-
Serum iron studies, which check the level of iron in your blood
-
Genetic mutation testing, which detects the presence of JAK2, CALR, or MPL mutations in your blood cells
In some cases, you may also need to have a bone marrow biopsy, which involves taking a small sample of your bone marrow tissue for further analysis.
Treatment of Essential Thrombocythemia
ET treatment depends on your risk of bleeding or blood clots. Your risk is determined by your age, medical history, platelet count, and genetic mutation status. You may be recommended one or more of the following options based on your risk:
-
Observation and lifestyle modification are appropriate for people without symptoms and at very low risk for complications. You will need regular blood tests to monitor your platelet count and avoid smoking, alcohol, and dehydration, which can increase your risk of clotting.
-
The goal of antiplatelet therapy and anticoagulant therapy is to prevent or treat blood clots in people with an intermediate or high risk of complications, or who have a history of bleeding or clotting. Your platelets or blood may need to be reduced in stickiness or activity by medications such as aspirin or warfarin.
-
If you have severe symptoms or organ damage, or if you are at high risk of complications, cytoreductive therapy will lower your platelet count. You may need to take medications, such as hydroxyurea, interferon, busulfan, or anagrelide, that slow down the production of platelets in your bone marrow.
Prevention of Essential Thrombocythemia
Since ET is caused by a genetic mutation that occurs randomly, there is no way to prevent it. You can, however, reduce your risk of complications by following your doctor's advice, taking your medications as prescribed, and having regular check-ups. In addition, you should notify your doctor immediately of any new or worsening symptoms.
