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    Primary thrombocythemia

    Essential thrombocythemia; Essential thrombocytosis

    Primary thrombocythemia is when the bone marrow is making too many platelets without a known cause. Platelets are needed for blood clotting.

    Causes

    Primary thrombocythemia is caused by too much growth of a type of cell that is used to make blood cells. The platelets are mostly affected, but the red blood cells and white blood cells may be involved as well. This condition slowly gets worse over time. Because these platelets do not work normally, bleeding is a common problem.

    The disease is part of a group of conditions known myeloproliferative disorders. Others include:

    • Chronic myelogenous leukemia
    • Polycythemia vera
    • Primary myelofibrosis

    Most of the time, this condition affects people in middle age. It is also seen in younger people especially women under age 40.

    Symptoms

    • Bleeding from the gastrointestinal tract, respiratory system, urinary tract, or skin
    • Bleeding from the gums
    • Bleeding (prolonged) from surgical procedures or tooth removal
    • Dizziness and headaches
    • Easy bruising and nosebleeds (epistaxis)
    • Numbness of the hands or feet
    • Ulcers on the fingers or toes

    The condition may even cause strokes in some people.

    Exams and Tests

    Most of the time, this condition if found through blood tests done for other conditions before symptoms appear.

    Your health care provider will do a physical exam to look for an enlarged spleen or liver. 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 aspiration and biopsy
    • CBC
    • Genetic tests (to look for a change in the JAK2 gene)
    • Uric acid level

    Treatment

    The doctors can do a procedure to remove platelets directly from the blood if you have life-threatening complications.

    Long-term, you will need to take medicines to decrease the platelet count and avoid complications. The most common of these medicines are 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 high risk for clotting aspirin at a low dose (81 to 100 mg per day) decreases clotting episodes. Patients who may benefit from this treatment include older patients, and people with very high platelet levels or who have had past clotting episodes).

    Many people do not need any treatment. However, the health care provider should monitor your condition.

    Outlook (Prognosis)

    The outcome varies. Most people go for long periods without complications and have a normal lifespan. Complications from bleeding and blood clots can cause serious problems in a small number of people.

    Rarely, the disease will change into acute leukemia or myelofibrosis.

    Possible Complications

    • Acute leukemia or myelofibrosis
    • Severe bleeding (hemorrhage)
    • Thrombotic episodes (stroke, heart attack, or blood clots in the hands or feet)

    When to Contact a Medical Professional

    Call your health care provider if:

    • You have unexplained bleeding that continues longer than it should.
    • You notice chest pain, leg pain, confusion, weakness, numbness, or other new symptoms.

    References

    Tefferi A. Polycythemias, Essential Thrombocytoemia, and Primay Myelobirosis. In: Goldman L, Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 169.

    Hoffman R, Kremyanskaya M, Najfeld V, et al. Essential Thrombocythemia. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, Pa: Saunders Elsevier; 2012:chap 68.

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              Review Date: 3/3/2013

              Reviewed By: Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, Bethanne Black, Stephanie Slon, and Nissi Wang.

              The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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