Essential thrombocythemia

Essential thrombocythemia: Description, Causes and Risk Factors:ICD-10: D47.3Abbreviation: ET.Bone marrow — spongy tissue inside your bones — contains stem cells that can become red blood cells, white blood cells or platelets. Platelets travel through your blood vessels. They stick together to form clots that stop the bleeding when you damage a blood vessel, such as when you get a cut. A normal platelet count ranges from 150,000 to 450,000 platelets per microliter of blood.Essential thrombocythemiaIf you have essential thrombocythemia, your bone marrow makes too many platelet-forming cells (megakaryocytes), which release too many platelets into your blood. The excess platelets increase the risk of blot clots which can lead to strokes and heart attacks. The disease most commonly affects people over age 50, but also affects children in rare cases.The causes of ET are not fully understood. About half of patients with ET have a mutation of the JAK2 (Janus kinase 2) gene in their blood cells. Whether or not a patient has the mutation does not appear to affect the nature of course of the disease. Research is underway to determine the precise role of JAK2 mutations and to identify other mutation in ET patients.Because the symptoms seen in patients with essential thrombocythemia vary from person-to-person, the prognosis is also different from person-to-person. In general, most people go long periods of time without complications and have a normal life expectancy. In a very small number of patients, life-threatening complications arise from a bleeding or clotting episode or from transformation into either primary myelofibrosis or acute myeloid leukemia.The prevalence in the general population is approximately 30/100,000. The median age at diagnosis is 60 years but it can occur at any age and up to 20% of patients are younger than 40 years.Symptoms:Bleeding from the gastrointestinal tract, respiratory system, urinary tract, or skin.
  • Bleeding from the gums.
  • Bleeding (prolonged) from surgical procedures or tooth removal.
  • Bloody stools.
  • Dizziness.
  • Easy bruising.
  • Headache.
  • Nosebleeds (epistaxis).
  • Numbness of the hands or feet.
  • Ulcers on the fingers or toes.
  • The condition may even cause strokes in some people.
Diagnosis:Differential diagnosis may include:Polycythemiavera.
  • Primary myelofibrosis.
  • Myelodysplasia with del(5q).
  • Refractory anaemia (with ring sideroblasts associated with marked thrombocytosis).
  • Chronic myeloid leukemia.
  • Chronic myelomonocytic leukemia.
  • Atypical chronic myeloid leukaemia.
  • Myelodysplastic syndrome/myeloproliferative neoplasm.
A physical exam may show an enlarged spleen or liver. There may be abnormal blood flow in the toes or feet, as well as skin damage caused by that abnormal blood flow.Blood tests that can help confirm a diagnosis of essential thrombocythemia include:Complete blood count (CBC): This test determines the number of platelets in your blood.
  • Blood smear: A small amount of your blood is examined under a microscope to view the condition of your platelets, such as whether they're abnormally large or clumped together.
  • Genetic testing: Special tests can determine whether you have chromosomal abnormalities that can cause a high platelet count and whether you have a JAK2 gene mutation.
  • Other blood tests: Your doctor may check the level of iron in your blood or test for markers of inflammation.
Other laboratory Tests:Erythrocyte sedimentation rate (ESR).
  • C-reactive protein (CRP).
  • Fibrinogen level.
  • Factor VIII procoagulant activity.
  • Von Willebrand antigen level.
Imaging: Chest X-ray and abdominal ultrasound may be indicated to exclude undetected sources of infection or malignancy. Ultrasound may also be useful to assess the spleen, especially when it is not palpable. To be palpable it must be at least twice the normal size.In more severe cases:Bone marrow aspiration: Your doctor extracts a small amount of your liquid bone marrow through a needle and examines it under a microscope, looking for abnormal cells.
  • Bone marrow biopsy: Your doctor takes a sample of solid bone marrow tissue through a needle for examination under a microscope. If you have ET, your bone marrow has a higher than normal number of the large cells that make platelets (megakaryocytes).
Treatment:If a patient has life-threatening complications, a procedure to remove platelets directly from the blood (Plateletpheresis) can quickly decrease the platelet count.Long-term use of medications to decrease the platelet count can reduce both bleeding and clotting complications. The most commonly used medications include hydroxyurea, interferon-alpha, or anagrelide.In patients who are at high risk for clotting (older patients, those with very high platelet levels or who have had past clotting episodes), aspirin at a low dose (81 to 100 mg per day) decreases clotting episodes.Many patients do not need any treatment. However, the health care provider should monitor their condition.NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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