Essential thrombocythemia is a myeloproliferative neoplasm in which excess platelets are produced, leading to abnormal blood clotting or bleeding.
The hands and feet may burn, turn red or discolored, and tingle, and the fingertips may feel cold.
Blood tests usually provide a diagnosis, but sometimes a bone marrow biopsy is needed.
Treatments that suppress symptoms and decrease platelet production are given.
In myeloproliferative neoplasms. the blood-producing cells in the bone marrow (precursor cells, also called stem cells) reproduce excessively.
Platelets (thrombocytes) are cell-like particles in the blood that help the body form blood clots. Platelets are normally produced in the bone marrow by cells called megakaryocytes. In thrombocythemia, megakaryocytes increase in number and produce too many platelets. Thrombocythemia can be
Primary (essential): Caused by a disorder of platelet-forming cells
Secondary: Caused by a disorder that triggers increased production by normal platelet-forming cells (see secondary thrombocythemia)
Essential thrombocythemia usually occurs in people over age 50. Sometimes younger patients, especially young women are affected.
Essential thrombocythemia is considered a myeloproliferative neoplasm, in which certain blood-producing cells in the bone marrow reproduce excessively. The cause is a genetic mutation usually in the Janus kinase 2 (JAK2), calreticulin (CALR), or thrombopoietin receptor (MPL) genes. The JAK2 gene mutation causes increased activity of the JAK2 enzyme, a protein that causes excess cell production.
Complications
Serious complications are rare but can be life-threatening.
Blood clots may form in almost any blood vessel. Blood clots in large blood vessels may affect the legs (causing deep vein thrombosis), brain (causing a stroke), heart (causing a heart attack), or lungs (causing a pulmonary embolism). Blood clots in tiny blood vessels can affect the eyes, brain, and skin.
Excessive bleeding also can occur. Although an increased number of platelets might be thought to always cause excessive blood clotting, a very high number of platelets can actually cause bleeding by affecting other parts of the body's clotting system.
Symptoms of Essential Thrombocythemia
Primary thrombocythemia may or may not cause symptoms. When symptoms occur, they are due to the blockage of blood vessels by blood clots and may include
Redness or discoloration and warmth of the hands and feet, often with burning pain (erythromelalgia)
Tingling and other abnormal sensations in the fingertips, hands, and feet
Chest pain
Loss of vision or seeing spots
Headaches
Weakness
Dizziness
Bleeding, usually mild (such as nosebleeds, easy bruising, slight oozing from the gums, or bleeding in the digestive tract)
The spleen may enlarge but this is rare at time of diagnosis and more common in females.
Older adults who may already have diseases that cause blood vessel damage, such as diabetes and high blood pressure, have a higher risk of complications caused by blood clots, such as transient ischemic attacks, stroke, and heart attack.
Diagnosis of Essential Thrombocythemia
Blood tests
Genetic tests
Sometimes bone marrow biopsy
Doctors make a diagnosis of primary thrombocythemia on the basis of the symptoms and after finding increased platelets on a blood count. Other blood tests, including genetic tests for the JAK2, CALR, or MPL mutations are done. In addition, microscopic examination of the blood may reveal characteristic findings.
To distinguish primary thrombocythemia from secondary thrombocythemia, which has many known causes, doctors look for signs of other conditions that could increase the platelet count. Removal of a sample of bone marrow for examination under a microscope (bone marrow biopsy) and doing genetic testing on the cells are sometimes helpful.
Treatment of Essential Thrombocythemia
Aspirin to relieve symptoms
Medications to decrease platelet count
aspirin.
Treatment with one of these medications is typically started when clotting or bleeding complications develop and not just based on the platelet count.
If treatment with medications does not slow platelet production quickly enough, it may be combined with or replaced by plateletpheresis, a procedure reserved for emergency situations. In this procedure, blood is withdrawn, platelets are removed from it, and the platelet-depleted blood is returned to the person. However, plateletpheresis is inefficient and only a temporary solution.
People with essential thrombocytosis usually have a normal life span, but some develop polycythemia vera (usually females) or myelofibrosis (usually males).
More Information
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
MPN Research Foundation: Essential Thrombocythemia: Supports research as well as advocacy and education for people with essential thrombocythemia
