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Essential thrombocythemia

Definition

Essential thrombocythemia (ET) is a condition in which the bone marrow produces too many platelets. Platelets are a part of the blood that aids in blood clotting.

Blood clotting

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Blood clotting

Alternative Names

Primary thrombocythemia; Essential thrombocytosis

Causes

ET results from an overproduction of platelets. Untreated, ET worsens over time. Because these platelets do not work normally, blood clots and bleeding are common problems.

ET is part of a group of conditions known as myeloproliferative disorders. Others include:

Many people with ET have a mutation of a gene (JAK2, CALR, or MPL).

ET is most common in middle aged people. It can also be seen in younger people, especially women under age 40.

Symptoms

Symptoms of blood clots may include any of the following:

  • Headache (most common)
  • Tingling, coldness, or blueness in the hands and feet
  • Feeling dizzy or lightheaded
  • Vision problems
  • Mini-strokes (transient ischemic attacks) or stroke

If bleeding is a problem, symptoms may include any of the following:

  • Easy bruising and nosebleeds
  • Bleeding from the gastrointestinal tract, respiratory system, urinary tract, or skin
  • Bleeding from the gums
  • Prolonged bleeding from surgical procedures or tooth removal

Exams and Tests

Most of the time, ET is found through blood tests done for other health problems before symptoms appear.

Your health care provider may notice an enlarged liver or spleen on physical examination. You may also have abnormal blood flow in the toes or feet that causes skin damage in these areas.

Other tests may include:

  • Bone marrow biopsy
  • Complete blood count (CBC)
  • Genetic tests (to look for a change in the JAK2, CALR, or MPL gene)
  • Uric acid level

Treatment

If you have life-threatening complications, you may have a treatment called platelet pheresis. It quickly reduces platelets in the blood.

Long-term, medicines are used to decrease the platelet count to avoid complications. The most common medicines used include hydroxyurea, interferon-alpha, or anagrelide. In some people with a JAK2 mutation, specific inhibitors of the JAK2 protein may be used.

In people who are at a high risk of clotting, aspirin at a low dose (81 to 100 mg per day) may decrease clotting episodes.

Many people do not need any treatment, but they must be followed closely by their provider.

Outlook (Prognosis)

While outcomes can vary, most people can go for long periods without complications and have a normal lifespan. In a small number of people, complications from bleeding and blood clots can cause serious problems.

In rare cases, the disease can change into acute leukemia or myelofibrosis.

Possible Complications

Complications may include:

When to Contact a Medical Professional

Call your provider if:

References

Hoffman R, Kremyanskaya M, Najfeld V, Mascarenhas J. Essential thrombocythemia. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, Anastasi J, eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap 68.

Tefferi A. Polycythemia vera, essential thrombocythemia, and primary myelofibrosis. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 166.

Review Date:2/1/2017
Reviewed By:Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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