Bye Bye Doctor Logo

    Bye Bye Doctor

    Back to all articles

    You May Also See

    Sunburn BlistersCanker Sore on TongueSkin UlcerSclerodermaGoiterAcromegalyShinglesAscitesVitiligoNoonan SyndromeHypovolemiaTooth AbscessLymphangitisLivedo ReticularisTeratoma
    Diseases
    Medically Reviewed

    Thrombocythemia

    Overview

    Thrombocythemia is a rare blood disorder characterized by the excessive production of platelets (thrombocytes) in the bone marrow. Platelets are responsible for helping blood clot, but when their numbers are abnormally high, it can lead to abnormal clotting or, paradoxically, increased bleeding. Thrombocythemia can be classified as either primary (essential thrombocythemia), which is a myeloproliferative neoplasm, or secondary (reactive thrombocytosis), which occurs in response to another condition such as infection or inflammation. The condition most commonly affects adults over 50 but can occur at any age, including in younger individuals.

    Causes

    The causes of thrombocythemia depend on whether it is primary or secondary:

    • Essential Thrombocythemia (ET): Caused by mutations in bone marrow cells, most commonly in the JAK2, CALR, or MPL genes. These genetic mutations lead to the uncontrolled production of platelets without an external cause.
    • Secondary (Reactive) Thrombocytosis: Occurs as a response to another condition, such as:
      • Infections (bacterial, viral, or fungal)
      • Inflammatory diseases (like rheumatoid arthritis)
      • Iron deficiency anemia
      • Post-surgical recovery or trauma
      • Malignancies (certain cancers)
      • Spleen removal (splenectomy)

    Symptoms

    Many individuals with thrombocythemia, especially in its early stages, may not experience noticeable symptoms. However, as platelet levels rise, symptoms may include:

    • Headaches: Frequent or throbbing headaches.
    • Dizziness or lightheadedness.
    • Vision changes: Blurred or double vision.
    • Tingling or burning sensations in hands and feet.
    • Unexplained bruising or bleeding: Nosebleeds, gum bleeding, or gastrointestinal bleeding.
    • Blood clot complications: Increased risk of thrombosis (blood clots), which can cause:
      • Deep vein thrombosis (DVT)
      • Strokes or transient ischemic attacks (TIAs)
      • Heart attacks
    • Enlarged spleen (splenomegaly): May cause abdominal discomfort or fullness.

    Diagnosis

    Diagnosing thrombocythemia involves several steps to confirm elevated platelet counts and determine the underlying cause:

    • Complete Blood Count (CBC): Reveals elevated platelet levels (usually above 450,000 platelets per microliter).
    • Peripheral Blood Smear: Examines the appearance of blood cells under a microscope.
    • Genetic Testing: Tests for JAK2, CALR, and MPL mutations help diagnose essential thrombocythemia.
    • Bone Marrow Biopsy: Evaluates the bone marrow for abnormal cell growth or fibrosis.
    • Inflammatory and Iron Studies: To rule out secondary causes like infection, inflammation, or iron deficiency.
    • Imaging Tests: Ultrasound of the spleen or Doppler studies may be used to detect blood clots or splenomegaly.

    Treatment

    Treatment depends on whether thrombocythemia is primary or secondary, and the individual’s risk of complications:

    • Observation: Low-risk essential thrombocythemia patients with mild symptoms may only require monitoring without immediate treatment.
    • Antiplatelet Therapy: Low-dose aspirin is commonly prescribed to reduce the risk of blood clots, especially in patients without major bleeding risks.
    • Cytoreductive Therapy: Medications like hydroxyurea, anagrelide, or interferon-alpha are used to reduce platelet counts in high-risk patients (those over 60 or with previous clotting events).
    • Treatment of Underlying Conditions: In secondary thrombocytosis, addressing the root cause (e.g., treating infection or correcting iron deficiency) often normalizes platelet counts.
    • Lifestyle Modifications: Healthy diet, smoking cessation, and regular exercise are encouraged to lower cardiovascular risks.

    Prognosis

    The prognosis for thrombocythemia varies depending on the type and management:

    • Essential Thrombocythemia: With appropriate treatment, many individuals live normal or near-normal life spans. Regular monitoring reduces the risk of complications such as clots or bleeding.
    • Risk of Transformation: A small percentage of essential thrombocythemia cases may progress to myelofibrosis or acute leukemia over time.
    • Secondary Thrombocytosis: Usually resolves once the underlying cause is treated, with no long-term consequences.
    • Overall Outcome: Favorable in most patients, particularly with timely diagnosis, risk stratification, and personalized treatment plans.

    Ongoing medical follow-up is crucial to manage risks, adjust treatments, and maintain overall health in individuals diagnosed with thrombocythemia.