In about two thirds of the individuals, the disease does not cause any symptoms and is diagnosed incidentally on routine blood tests. In patients with symptomatic disease the signs and symptoms vary among different individuals. The most common manifestations are abnormal bleeding or thrombosis.

Bleeding tendency may manifest in the form of:

• Bleeding from respiratory tract.
• Bleeding from gastrointestinal tract.
• Bleeding from urinary tract.
• Bleeding from gums.
• Epistaxis.
• Early bruising.

Thrombi may form anywhere in the body including the heart and intestine, thus compromising their blood supply. Thrombosis occurring in small vessels mainly causes numbness and abnormal burning sensations of hands and feet [5] [6].

Other signs and symptoms of clotting include:

• Changes in speech and orientation causing confusion.
• Seizures.
• Shortness of breath.
• Nausea.
• Discomfort in arms, legs, back, neck, jaw or abdomen.

In high risk cases clotting in the brain may result in stroke. In pregnant females, blood clots in the placenta may cause problems in the fetal growth and development or may lead to termination of pregnancy. All the females with essential thrombocythemia who use oral contraceptive pills are at a higher risk of developing thrombosis.

• Splenomegaly

  DISEASE OVERVIEW: Polycythemia Vera (PV) and essential thrombocythemia (ET) are myeloproliferative neoplasms respectively characterized by erythrocytosis and thrombocytosis; other disease features include leukocytosis, splenomegaly, thrombosis, bleeding [ncbi.nlm.nih.gov]

  Romanian Trombocitemie, anemie, eozinofilie English Thrombocythaemia, anaemia, eosinophilia Last Update: 2012-04-11 Usage Frequency: 2 Quality: Romanian Trombocitemie Splenomegalie Limfadenopatie Hipocromazie English Thrombocythaemia Splenomegaly Lymphadenopathy [mymemory.translated.net]

  While splenomegaly is found in about 40% of ET patients (see above), its presence is not diagnostic, as some of the inflammatory, infectious and malignant causes of secondary thrombocytosis may also be accompanied by splenomegaly. [cancertherapyadvisor.com]

  […] erythroid hyperplasia, atypical megas Panmyelosis, atypical tightly clustered megas ↑↑Megas Erythroid dysplasia, ring sideroblasts, ↑megas Erythroid hypoplasia, ↑small megas Marrow Fibrosis Varies ↑ in spent phase ↑↑ in fibrotic phase Minimal Varies Minimal Splenomegaly [surgpathcriteria.stanford.edu]

  PHYSICAL EXAMINATION May be Unremarkable Erythromelalgia 35-40% present with splenomegaly 20% present with hepatomegaly 17. [slideshare.net]

• Easy Bruising

  About one-third of patients with ET will demonstrate no symptoms at all, but many will experience easy bruising or bleeding with little or no injury. [uihc.org]

  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. [merckmanuals.com]

  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 [hhsnj.adam.com]

  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 Most of the time, ET is found through blood tests done for [nlm.nih.gov]

  Bleeding is usually mild and manifests as epistaxis, easy bruising, or GI bleeding. However, thrombosis is a major cause of morbidity and mortality in ET. [askhematologist.com]

• Pain

  They include: Headache Dizziness or lightheadedness Chest pain Fainting Temporary vision changes Numbness or tingling of the hands and feet Redness, throbbing and burning pain in the hands and feet Less commonly, essential thrombocythemia may cause bleeding [mayoclinic.org]

  When symptoms occur, they are due to the blockage of blood vessels by blood clots and may include Redness and warmth of the hands and feet, often with burning pain (erythromelalgia) Tingling and other abnormal sensations in the fingertips, hands, and [merckmanuals.com]

  […] speaking, and vision problems Thrombosis in the legs can cause leg pain, swelling, or both Clots that can travel to the lungs (pulmonary embolism), blocking blood flow in the lungs and causing chest pain and difficulty breathing (dyspnea) Bleeding episodes [rarediseases.info.nih.gov]

  You notice chest pain, leg pain, confusion, weakness, numbness, or other new symptoms. References Gotlib J. Polycythemia vera, essential thrombocythemia, and primary myelofibrosis. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. [hhsnj.adam.com]

  […] or swelling in arms or legs Shortness of breath Chest pain Increased coughing (possibly with blood) Follow-up care and prognosis ET requires regular appointments with your doctor. [uihc.org]

• Anemia

  may have ↑basophils, platelets Anemia, leukocytosis, ↑or nl platelets ↑platelets, often abnormal Dimorphic RBC, ↑platelets Macrocytic anemia, ↑or nl platelets Marrow ↑↑Myeloids, ↑dwarf megas Panmyelosis, ±erythroid hyperplasia, atypical megas Panmyelosis [surgpathcriteria.stanford.edu]

  Secondary, or reactive, thrombocytosis is caused by another condition the patient may be suffering from, such as: Anemia due to iron deficiency. Cancer. Inflammation or infection, Surgery, especially splenectomy (removal of the spleen). [my.clevelandclinic.org]

  Anemia Sickle Cell anemia Anemia of chronic Diseases Aplastic anemia Malaria Autoimmune Hemolytic Anemia Polycythemia vera Diseases of Platelets include: Hemophilia A,B&C Essential Thrombocytemia Thrombotic Thrombocytenic Purpura. [play.google.com]

  Hemorrhagic thrombocythemia (Essential Thrombocythemia) The list of signs and symptoms mentioned in various sources for Hemorrhagic thrombocythemia includes the 18 symptoms listed below: * Spontaneous bleeding * Coughing up blood * Melena * Menorrhagia * Anemia [checkorphan.org]

  Anemia/Blood loss Infections Inlfamatory conditions Post-splenectomy Cause of Thrombocytosis 4. • ESSENTIAL THROMOCYTHEMIA: • aka Essential Thrombocytosis, Idiopathic thrombocytosis, primary thrombocytosis, Hemorrhagic thrombocythemia • Non-reactive [slideshare.net]

• Asymptomatic

  Half of all patients are asymptomatic, but clinical presentations include thrombosis and bleeding. There are no pathognomonic features and it is a diagnosis of exclusion. Low-risk asymptomatic patients do not need treatment. [bestpractice.bmj.com]

  Treatment is not recommended for ET in an asymptomatic patient in the absence of bleeding or thrombosis and a platelet count <1,500,000/mm(3). Our first case had platelets >1,500,000/mm(3), and a second child was symptomatic with recurrent headache. [ncbi.nlm.nih.gov]

  Some patients with ET are asymptomatic, while others may experience microcirculatory disturbances or vasomotor events: headaches, visual disturbances, lightheadedness, atypical chest pain, distal paresthesias, erythromelalgia, and other symptoms of transient [orpha.net]

  Many ET patients are asymptomatic. Consequently, the disease is often diagnosed as part of a routine check-up, after a blood test reveals a high platelet count. [mpnresearchfoundation.org]

• Weakness

  […] vessels by blood clots and may include Redness 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 [merckmanuals.com]

  Symptoms and signs may include weakness, headaches, paresthesias, bleeding, and erythromelalgia with digital ischemia. [msdmanuals.com]

  Signs and symptoms of both a stroke and a TIA develop suddenly and include: Weakness or numbness of your face, arm or leg, usually on one side of your body Difficulty speaking or understanding speech Blurred, double or decreased vision Seek medical attention [mayoclinic.org]

  You notice chest pain, leg pain, confusion, weakness, numbness, or other new symptoms. References Gotlib J. Polycythemia vera, essential thrombocythemia, and primary myelofibrosis. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. [hhsnj.adam.com]

  […] pinpoint bleeding on the skin of the arms or legs Black or bloody stools Blood in the urine Clotting symptoms Redness or burning sensations in the fingers, hands, and feet Dizziness Headaches Visual changes Confusion in speech Numbness, tingling, or weakness [uihc.org]

• Fatigue

  In May 2018, she reported progressive fatigue and 15 lb unintentional weight loss over the preceding three months. [hindawi.com]

  We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: January 30, 2019 [patientslikeme.com]

  Eight years later, in January 2015, she presented with excessive fatigue, poor appetite, unintentional weight loss, a white blood cell (WBC) count of 24,700 per mL, hemoglobin of 9.9 g/dl, and a platelet count of 557,000 per mL, with blasts and basophils [ncbi.nlm.nih.gov]

• Dyspnea

  A 52-year-old African American male with ET presented with chest pain, shortness of breath, and dyspnea on exertion. His ET was managed with hydroxyurea 1500 mg by mouth twice a day and anagrelide 1 mg by mouth 3 times a day. [ncbi.nlm.nih.gov]

  In addition, clots can travel to the lungs (pulmonary embolism), blocking blood flow in the lungs and causing chest pain and difficulty breathing (dyspnea). [ghr.nlm.nih.gov]

  […] migraines Paresthesias of the hands and feet Thrombotic events Thrombosis may cause symptoms in the affected site (eg, neurologic deficits with stroke or transient ischemic attack; leg pain, swelling, or both with lower extremity thrombosis; chest pain and dyspnea [merckmanuals.com]

  […] arm or leg, trouble speaking, and vision problems Thrombosis in the legs can cause leg pain, swelling, or both Clots that can travel to the lungs (pulmonary embolism), blocking blood flow in the lungs and causing chest pain and difficulty breathing (dyspnea [rarediseases.info.nih.gov]

• Hemoptysis

  Other superficial bleeding manifestations of ET include mucosal hemorrhage, such as epistaxis, hemoptysis, gingival oozing or bleeding from the gastrointestinal or genitourinary tracts. [cancertherapyadvisor.com]

• Hepatomegaly

  Hepatomegaly may rarely occur. Myelofibrosis is common. Transformation to Acute Myeloid Leukemia (AML) occurs in 0.6-5% of patients with ET; the risk may be comparable to that of the healthy population. [askhematologist.com]

  PHYSICAL EXAMINATION • Unremarkable • 40-50% present with splenomegaly • 20% present with hepatomegaly 12. [slideshare.net]

  In some cases the liver may also be enlarged (hepatomegaly). Other symptoms include weight loss and generalised itching. [leukaemia.org.au]

  […] include: Bleeding tendency Microvascular occlusion Thrombosis of major arteries leading to symptoms such as stroke and transient ischemic attacks Vasomotor manifestations such as headache, transient visual disturbances and syncope Mild splenomegaly Hepatomegaly [pathologyoutlines.com]

• Hepatosplenomegaly

  Ultrasound scan An ultra sound scan can be used to assess hepatosplenomegaly, which can then provide an indication of how far the disease has progressed. [aoporphan.com]

  No mucosal lesions, no evidence of adenopathy, lung fields are clear and well-ventilated, heart has regular rate and rhythm, no murmurs, abdomen soft, depressible and non-tender, no hepatosplenomegaly, normal peristaltic sounds, no masses, well-developed [elsevier.es]

• Hematuria

  […] disturbances is erythromelalgia, consisting of congestion, redness and burning pain to ischemia and gangrene of the distal portions of toes and fingers. 15 The most frequent bleeding events are hemorrhages from the gastrointestinal tract followed by hematuria [nature.com]

  Clinical presentation can be characterized by bruises following minor trauma, oral hemorrhagic bullae, epistaxis, gastrointestinal bleeding, conjunctival hemorrhage, or hematuria. Management depends on the severity of thrombocytopenia and bleeding. [peertechzpublications.com]

• Headache

  Aspirin to relieve symptoms Drugs to decrease platelet count Aspirin, which makes platelets less sticky and impairs clotting, may be given in small doses to help relieve mild symptoms such as redness and warmth of hands and feet, and headache, but people [merckmanuals.com]

  Identification of specific headache types in patients with ET may enable physicians to employ the most effective headache medication. [doi.org]

  This condition may cause you to feel fatigued and lightheaded and to experience headaches and vision changes. It also increases your risk of blood clots. [mayoclinic.org]

  Case A 32-year-old woman, 4 weeks postpartum, presented to the ED with a chief complaint of headache, which she stated had become worse over the past 4 days. The headache was gradual-onset, bioccipital, and pressure-like. [mdedge.com]

• Stroke

  Strokes and mini-strokes If a blood clot occurs in the arteries that supply the brain, it may cause a stroke or a transient ischemic attack (TIA). A TIA (mini-stroke) is a temporary interruption of blood flow to part of the brain. [mayoclinic.org]

  Symptoms Symptoms 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, [hhsnj.adam.com]

  The Lausanne Stroke Registry: analysis of 1,000 consecutive patients with first stroke. Stroke. 1988 ; 19 :1083-1092. Crossref Medline Google Scholar 13 Arboix A, Massons J, Oliveres M, García L, Titus F. [stroke.ahajournals.org]

  Although the international normalized ratio was in the therapeutic range, he had 3 additional ischemic stroke episodes with the same symptoms after the index stroke. [ncbi.nlm.nih.gov]

  The excess platelets increase the risk of blood 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. [stanfordhealthcare.org]

• Dizziness

  Causes - Hemorrhagic thrombocythemia (Essential Thrombocythemia) * Anemia * Central nervous system ischemia * Coughing up blood * Deep vein thrombosis * Dizziness * Enlarged spleen * Headache * Increased platelets * Melena * Menorrhagia * Nosebleed * [checkorphan.org]

  […] by blood clots and may include Redness 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 [merckmanuals.com]

  A total of 31 (79.5%) patients experienced momelotinib-related adverse events (AEs), the most frequent being headache (23.1%), dizziness (18.0%), somnolence (15.4%), nausea (15.4%), and fatigue (15.4%). [ncbi.nlm.nih.gov]

  They include: Headache Dizziness or lightheadedness Chest pain Fainting Temporary vision changes Numbness or tingling of the hands and feet Redness, throbbing and burning pain in the hands and feet Less commonly, essential thrombocythemia may cause bleeding [mayoclinic.org]

  In the central nervous system, it manifests itself in the guise of functional disturbances such as repetitive sight and speech disorders, dizziness, balance difficulties, paralysis and even seizures. [aoporphan.com]

• Tingling

  The hands and feet may burn, turn red, 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. [merckmanuals.com]

  Minor symptoms can include bruising, bleeding such as bleeding gums, nose bleeds, heavy menstrual periods, pain, tingling, burning or numbness in fingers and toes, skin sensations-tingling, feeling of something crawling on your arm, headache and fatigue [medlink.com]

  Numbness and tingling also occur. Diagnosis and Tests How is thrombocytosis diagnosed? Finding the underlying condition (such as iron deficiency anemia, cancer or infection) can aid in the diagnosis and management of thrombocytosis. [my.clevelandclinic.org]

  They include: Headache Dizziness or lightheadedness Chest pain Fainting Temporary vision changes Numbness or tingling of the hands and feet Redness, throbbing and burning pain in the hands and feet Less commonly, essential thrombocythemia may cause bleeding [mayoclinic.org]

• Paresthesia

  Some patients with ET are asymptomatic, while others may experience microcirculatory disturbances or vasomotor events: headaches, visual disturbances, lightheadedness, atypical chest pain, distal paresthesias, erythromelalgia, and other symptoms of transient [orpha.net]

  Symptoms and signs may include weakness, headaches, paresthesias, bleeding, and erythromelalgia with digital ischemia. [msdmanuals.com]

• Nausea

  Symptoms varied and included cerebral ischemic attacks, mental concentration disturbances followed by throbbing headaches, nausea, vomiting, syncope or even seizures. [ncbi.nlm.nih.gov]

  Side effects may include flu-like symptoms, confusion, nausea, depression, diarrhea, seizures, irritability and sleepiness. [mayoclinic.org]

• Vomiting

  Symptoms varied and included cerebral ischemic attacks, mental concentration disturbances followed by throbbing headaches, nausea, vomiting, syncope or even seizures. [ncbi.nlm.nih.gov]

  […] made after noting an elevated platelet level on a routine complete blood count (CBC).[2] The most common symptoms are bleeding (due to dysfunctional platelets), blood clots (e.g., deep vein thrombosis or pulmonary embolism), fatigue, headache, nausea, vomiting [en.wikipedia.org]

• Abdominal Pain

  Additionally, Lorelli and Shepard reported resolution of abdominal pain in an elderly patient with ET-related thrombosis of the aorta, splenic infarction, and portal vein thrombosis treated with anegralide and systemic anticoagulation with warfarin [3 [hindawi.com]

  pain, visual disturbances, dizziness, fainting, and numbness in the extremities; the most common signs are increased white blood cell count, reduced red blood cell count, and an enlarged spleen.[2][3][4] Cause[edit] In ET, megakaryocytes are more sensitive [en.wikipedia.org]

• Melena

  Symptoms - Hemorrhagic thrombocythemia (Essential Thrombocythemia) The list of signs and symptoms mentioned in various sources for Hemorrhagic thrombocythemia includes the 18 symptoms listed below: * Spontaneous bleeding * Coughing up blood * Melena * [checkorphan.org]

  A history of gastrointestinal blood loss (melena and/or hematemesis) or biological evidence in favor of chronic occult blood loss may be evidenced at diagnosis. Secondary bleeding, eventually life-threatening can also occur after trauma or surgery. [ojrd.biomedcentral.com]

• Blood in Stool

  The patients may complain of nose bleeds, blood in stools, early bruising, prolonged bleeding from cuts or other injuries, burning or tingling sensations in palms and soles of the hands and feet respectively. [symptoma.com]

• Bleeding Gums

  Problems caused by abnormal bleeding are less common than clotting problems. They can include: nosebleeds bruising abnormal vaginal bleeding bleeding gums. [web.archive.org]

  Another problem in essential thrombocythemia is abnormal bleeding, which occurs more often in people with a very high number of platelets. Affected people may have nosebleeds, bleeding gums, or bleeding in the gastrointestinal tract. [ghr.nlm.nih.gov]

  Some people notice frequent or severe nose bleeds or bleeding gums and some women may have unusually heavy menstrual periods. In pregnancy, uncontrolled essential thrombocythaemia can reduce the blood supply to the placenta or foetus. [leukaemia.org.au]

  Minor symptoms can include bruising, bleeding such as bleeding gums, nose bleeds, heavy menstrual periods, pain, tingling, burning or numbness in fingers and toes, skin sensations-tingling, feeling of something crawling on your arm, headache and fatigue [medlink.com]

  Excessive bleeding. This may appear as nosebleeds, bleeding gums or bruising. Rarely, essential thrombocythemia may progress to these potentially life-threatening diseases: Acute myelogenous leukemia. [drugs.com]

• Thrombosis

  Thrombosis typically occurs in small to medium vessels; thrombosis of large vessels is rare. Case Presentation. [hindawi.com]

  Hemorrhage and Thrombosis 13. [slideshare.net]

  In this regard, we find it practically useful to consider three layers of classification based on thrombosis history (no thrombosis vs arterial thrombosis vs venous thrombosis), age ( JAK2 V617F. [doi.org]

  Related Articles Essential thrombocythemia is associated with increased risks of bleeding and thrombosis. Estimation of the risk of thrombosis is based on history of thrombosis, presence of the JAK2 V617F mutation, age, and cardiovascular risk. [nejm.org]

• Chest Pain

  In this report, a 63-year-old man presented with acute chest pain and a greatly increased platelet count. The patient was successfully treated with intravenous tirofiban, a glycoprotein IIb/IIIa receptor blocker. [ncbi.nlm.nih.gov]

  […] 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 [merckmanuals.com]

  Some patients with ET are asymptomatic, while others may experience microcirculatory disturbances or vasomotor events: headaches, visual disturbances, lightheadedness, atypical chest pain, distal paresthesias, erythromelalgia, and other symptoms of transient [orpha.net]

• Cyanosis

  Thrombosis in small blood vessels can lead to cyanosis, erythromelalgia (painful vessel dilation in the extremities), ulceration, or gangrene in the fingers or toes. [clevelandclinicmeded.com]

  ET-related clinical manifestations Relative incidence Acroparesthesia or numbness 13 (24) Painful toes and/or cyanosis (Erythromelalgia) 12 (21) Transient ocular attacks Visual scotomas 11 (20) Amaurosis fugax 5 (9) Diplopia 3 (5) Hemianopsia 2 (4) Blurred [wjgnet.com]

  Seventy-five to ninety percent of patients with PV have the triad of splenomegaly, polycythemia, and ruddy cyanosis. Retrospectively, our patient was healthy and complete blood count (CBC) was normal before splenectomy was performed. [hindawi.com]

• Leg Pain

  You notice chest pain, leg pain, confusion, weakness, numbness, or other new symptoms. References Gotlib J. Polycythemia vera, essential thrombocythemia, and primary myelofibrosis. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. [hhsnj.adam.com]

  […] or legs Shortness of breath Chest pain Increased coughing (possibly with blood) Follow-up care and prognosis ET requires regular appointments with your doctor. [uihc.org]

  Resources - Hemorrhagic thrombocythemia (Essential Thrombocythemia) Call your health care provider: * If unexplained or prolonged bleeding occurs * If chest pain, leg pain, confusion, weakness, numbness, or other new symptoms develop [checkorphan.org]

  You notice chest pain, leg pain, confusion, weakness, numbness, or other new symptoms. Images References Mascarenhas J, Iancu-Rubin C, Kremyanskaya M, Najfeld V, Hoffman R. Essential thrombocythemia. [ufhealth.org]

  You notice chest pain, leg pain, confusion, weakness, numbness, or other new symptoms. Review Date: 2/1/2017 Reviewed By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. [account.allinahealth.org]

• Back Pain

  We report a case of a 68-year-old woman with abdominal and back pain. The diagnostic work-up showed a left adrenal gland infarction associated with essential thrombocythemia. [ncbi.nlm.nih.gov]

  paresthesia, back pain, pruritus and dyspepsia. [oatext.com]

  Two months later, the patient presented to our hospital with complaints of acute, severe, diffuse abdominal and low back pain. She had tachycardia while the other vital signs were normal. [hindawi.com]

• Neck Pain

  She denied head injury, fever, chills, nausea, vomiting, neck pain, visual changes, focal weakness, or numbness. Her past medical history was significant for essential thrombocytosis (ET) with three prior spontaneous abortions. [mdedge.com]

• Scotoma

  MIAs were frequently preceded or followed by ocular ischemic events of blurred vision, scotomas, transient flashing of the eyes, and sudden transient partial blindness preceded or followed erythromelalgia in the toes or fingers. [ncbi.nlm.nih.gov]

  Patients also report paresthesias and episodic transient ischemic attacks; transient neurologic symptoms include the following: Unsteadiness Dysarthria Dysphoria Vertigo Dizziness Migraine Syncope Scotoma Seizures Thrombosis of large veins and arteries [emedicine.medscape.com]

  Prolonged bleeding caused by surgical procedures or removal of a tooth Ulcers of the fingers or toes Microvascular occlusions (in arteries or small caliber veins) in fingers or toes leading to gangrene Unpleasant moods (dysphoria) Seeing spots or lights (Scotomas [rarediseases.info.nih.gov]

  The MIAs in these 10 JAK2 V617F mutated MPN patients ranged from attacks of transient blindness, diplopia and scotomas to migraine-like attacks followed by throbbing headaches, nausea, vomiting or even seizures. [wjgnet.com]

  […] feature of ET and other MPNs affects patients’ quality of life and is multifactorial in etiology. 23-25 Vasomotor symptoms, including headaches, erythromelalgia, acroparesthesias, livedo reticularis, transient ischemic attacks, peripheral ischemia, scotomas [hematologyandoncology.net]

• Visual Impairment

  Decreased vision - visual acuity may be impaired by: Direct optic nerve involvement due to the pathophysiology. Distortion of the macula by a lesion pushing in behind the globe. Exposure keratopathy (see above) can also affect the visual acuity. [patient.info]

  Permanent visual impairment is rare if the condition is identified and treated quickly. When to get medical advice See your GP or an optometrist (optician) if you notice that one or both of your eyes are protruding. [nidirect.gov.uk]

• Visual Impairment

  Decreased vision - visual acuity may be impaired by: Direct optic nerve involvement due to the pathophysiology. Distortion of the macula by a lesion pushing in behind the globe. Exposure keratopathy (see above) can also affect the visual acuity. [patient.info]

  Permanent visual impairment is rare if the condition is identified and treated quickly. When to get medical advice See your GP or an optometrist (optician) if you notice that one or both of your eyes are protruding. [nidirect.gov.uk]

• Pruritus

  We currently do not recommend treatment with ruxolutinib or other JAK2 inhibitors in PV or ET, unless in the presence of severe and protracted pruritus or marked splenomegaly that is not responding to the aforementioned drugs. [ncbi.nlm.nih.gov]

  Erythroid dysplasia, ring sideroblasts, ↑megas Erythroid hypoplasia, ↑small megas Marrow Fibrosis Varies ↑ in spent phase ↑↑ in fibrotic phase Minimal Varies Minimal Splenomegaly ++ ++ +++ ± ± Absent Clinical/Other B symptoms Hypertension, thrombosis, pruritus [surgpathcriteria.stanford.edu]

  During regular follow-ups, the patient had developed diffuse pruritus, palmar erythromelalgia, and a transient episode of monocular vision loss. [cureus.com]

  Other disease features include leukocytosis, splenomegaly, thrombohemorrhagic complications, vasomotor disturbances, pruritus, and a small risk of disease progression into acute leukemia or myelofibrosis. [doi.org]

• Night Sweats

  In one large internet-based survey of 304 patients with ET, 72% reported fatigue, and 40% or more reported itching, night sweats and bone pain. [healio.com]

  sweats > 10% weight loss in 6 months Bone marrow examination is necessary to exclude other myeloproliferative neoplasms, myelodysplastic syndromes associated with isolated del(5q) and myelodysplastic / myeloproliferative neoplasm Prognostic factors Initial [pathologyoutlines.com]

  Systemic symptoms such as weight loss, fevers and night sweats are unusual in ET; their occurrence should raise the suspicion of an alternative diagnosis. The physical exam in most patients with ET is normal. [cancertherapyadvisor.com]

  sweats b) Or progressive disease any time while on ruxolitinib treatment as defined by any one of the following: • Spleen volume increase by ≥ 25% from the nadir as assessed by MRI or CT • Appearance of new splenomegaly that is palpable at least 5 cm [clinicaltrialsregister.eu]

• Purpura

  […] essential (hemorrhagic) thrombocythemia ( D47.3 ) hemorrhagic thrombocythemia ( D47.3 ) purpura fulminans ( D65 ) thrombotic thrombocytopenic purpura ( M31.1 ) Waldenström hypergammaglobulinemic purpura ( D89.0 ) ICD-10-CM Diagnosis Code D69 Purpura and [icd10data.com]

  (D47.3) 전격성 자반증(purpura fulminans)(D65) 혈전성 혈소판감소성 자반증(thrombotic thrombocytopenic purpura)(M31.1) D69.0 알레르기성 자반증(Allergic purpura) 아나필락토이드 자반증(Anaphylactoid purpura) 헤노흐(-쇤라인) 자반증(Henoch(-Schonlein purpura) 출혈성 비혈소판감소성 자반증(Haemorrhagic nonthrombocytopenic [dic.impact.pe.kr]

  Von Willebrand Diseases Idiopathic Thrombocytenic Purpura Diseases of Plasma Include: Deep Vain Thrombosis Disseminated Intravascular Coagulation Hypercogulable State Van Willebrand Diseases [play.google.com]

  カテゴリ がん 階層分類 ヒト疾患 [BR: jp08402 ] がん 造血組織およびリンパ系組織のがん H01612 本態性血小板血症 ICD-11 による疾患分類 [BR: jp08403 ] 03 Diseases of the blood or blood-forming organs Coagulation defects, purpura or other haemorrhagic or related conditions Fibrinolytic defects 3B63 Thrombocytosis [genome.jp]

  The remaining disorders consisted of polycythemia vera (2), smoker’s polycythemia (1), thrombotic thrombocytopenic purpura (1), familial protein C deficiency (1), IgA myeloma (1), acute leukemia (1), and Waldenström’s macroglobulinemia (1). [stroke.ahajournals.org]

• Petechiae

  The following symptoms require prompt attention: Bleeding symptoms Easy bruising Bleeding for no apparent reason Unusually heavy or prolonged bleeding Nose or gum bleeding Bleeding of mucous membrane Petechiae, or tiny areas of pinpoint bleeding on the [uihc.org]

  Petechiae are never seen. A history of gastrointestinal blood loss (melena and/or hematemesis) or biological evidence in favor of chronic occult blood loss may be evidenced at diagnosis. [ojrd.biomedcentral.com]

  On examination, petechiae were found on her oral mucosa and on her limbs. There were no signs of infection. Blood tests revealed a platelet count of 3 × 109/L and an increased immature platelet fraction (IPF) of 29%. [journals.lww.com]

• Epistaxis

  Bleeding is usually mild and manifests as epistaxis, easy bruising, or GI bleeding. However, thrombosis is a major cause of morbidity and mortality in ET. [askhematologist.com]

  Epistaxis. Early bruising. Thrombi may form anywhere in the body including the heart and intestine, thus compromising their blood supply. Thrombosis occurring in small vessels mainly causes numbness and abnormal burning sensations of hands and feet. [symptoma.com]

  Bleeding is usually mild, rarely spontaneous, and manifests as epistaxis, easy bruisability, or gastrointestinal bleeding. However, serious bleeding may occur in a small percentage of cases with extreme thrombocytosis. [msdmanuals.com]

  Bleeding is usually mild, rarely spontaneous, and manifests as epistaxis, easy bruisability, or GI bleeding. However, serious bleeding may occur in a small percentage of cases with extreme thrombocytosis. [merckmanuals.com]

Most of the cases of essential thrombocythemia are diagnosed during routine blood tests. In patients with the signs and symptoms of platelet dysfunction or thrombocytosis, the diagnosis of primary thrombocythemia is established after ruling out all the causes of these abnormalities.

In order to confirm the diagnosis, a number of different tests are required. These include the following [7].

• Complete blood count: The blood count will show increased numbers of platelets greater than 600,000 per micro liter of blood.
• Blood smear: Blood smear will show abnormally large or clumped platelets.
• Genetic testing: This is done to look for JAK2 kinase mutation.
• Bone marrow aspiration: This will show abnormal megakaryocytes.
• Bone marrow biopsy: Bone marrow biopsy is required to confirm the results of bone marrow aspiration.

• Enlargement of the Liver

  This progressive disorder results in bone marrow scarring, leading to severe anemia and enlargement of your liver and spleen. Pregnancy complications Most women who have essential thrombocythemia have normal, healthy pregnancies. [mayoclinic.org]

  If a patient shows up with enlarged spleen or liver which means that you have blood production taking place outside the bone marrow, treatment is a very good idea. [medlink.com]

  This progressive disorder results in bone marrow scarring, leading to severe anemia and enlargement of your liver and spleen. [drugs.com]

  Because kinases are very powerful drivers of cell growth, this genetic change leads to an elevation in blood counts and enlargement of the liver and spleen. [rarediseases.org]

• Thrombocytosis

  Overview What is thrombocytosis? Thrombocytosis refers to having too many platelets in your blood. Platelets are blood cells in plasma that stop bleeding by sticking together to form a clot. [my.clevelandclinic.org]

  “Thrombocytosis”. N Engl J Med. vol. 350. 2004. pp. 1211-9. [Concise review with special emphasis on differentiating various forms of thrombocytosis.] Skoda, RC. “Thrombocytosis”. Hematology Am Soc Hematol Educ Program.. 2009. pp. 156-67. [cancertherapyadvisor.com]

  The JAK2 V617F mutation occurs in about 50-60% of patients, and if present, helps distinguish ET from other causes of thrombocytosis. [askhematologist.com]

  […] about 3-5% of essential thrombocytosis cases. [emedicine.medscape.com]

  […] primary Thrombocytosis familial thrombocytosis hereditary thrombocythemia hemorrhagic thrombocythemia Primary Thrombocythemia essential thrombocytemia ET essential thrombocytosis Idiopathic thrombocythemia Thrombocythemia type 1 THCYT1 THROMBOCYTHEMIA [wikidata.org]

• Platelet Aggregation Abnormal

  Other laboratory findings in ET include: Normal or slightly increased thrombopoeitin Usually normal prothrombin time (PT) and activated partial thromboplastin time (aPTT) Platelet aggregation: abnormal with adenosine diphosphate, epinephrine, and collagen [labce.com]

  […] function abnormalities and it has not been found to predict reliably either a bleeding or a thrombotic tendency in patients with essential thrombocythemia.95,96 and 97 The platelet aggregation abnormalities in patients are variable. [medtextfree.wordpress.com]

  Although platelet aggregation abnormalities exist in most patients, these abnormalities do not appear to correlate with the risk of bleeding or thrombosis. [clevelandclinicmeded.com]

Most of the patients with primary thrombocythemia do not need any treatment.

In individuals who are at a higher risk of developing thrombosis or abnormal bleeding, the mainstay of treatment is to lower the platelet count [8]. The most widely used drugs for this purpose are hydroxyurea, interferon-alpha or anagrelide along with low doses of aspirin. These medications are to be taken for whole life [9].

In pregnant and lactating patients, hydroxyurea and anagrelide are contraindicated. These females are monitored closely throughout pregnancy to detect any blood clots. After parturition, these patients receive injections of low molecular weight heparin daily for several weeks as during this time they are more prone to develop thrombosis.

In rare cases with life threatening complications, platelet count can be rapidly reduced by removing platelets directly from blood in a procedure referred to as platelet apheresis.

The outlook for the disease may vary from one patient to another. Most of the patients, if diagnosed and treated properly, may have a normal life span [10].

In a small number of people, complications from bleeding or blood clotting may arise. Rarely, the disease may have the following complications:

• Acute leukemia or myelofibrosis
• Severe bleeding
• Stroke
• Myocardial infarction

There is no definite cause of essential thrombocythemia or other myeloproliferative disorders; however, certain gene mutations in the JAK2 kinase, a member of the Janus-kinase family of genes, have been found in half of the patients with this disorder [3] [4].

Essential thrombocythemia is not a very common disease. The annual incidence rate of essential thrombocythemia is about 2 to 3 per 100, 000 individuals.

The average age at diagnosis is around 40 to 50 years, although it may occur in females below 40 years of age [1]. Very rarely, it can also occur in children and young adults [2].

The bone marrow contains stem cells that develop into different blood cell lineages. Platelets are produced from large cells called megakaryocytes. The normal platelet count ranges from 150,000 to 300,000 per microliter of blood. The main function of platelets is to help in hemostasis by forming a platelet plug at the site of bleeding.

In essential thrombocythemia, there is an increase in the number of platelets in the blood. Besides, these extra platelets do not function normally. In about 50 percent of the patients, this abnormality occurs due to a mutation in the JAK2 kinase which renders the megakaryocytes excessively sensitive to stimulation by the growth factors.

These abnormally functioning thrombocytes may cause episodes of bleeding from different sites in the body or they may cause the formation of blood clots restricting blood flow to the vital organs.

There are no guidelines for prevention of essential thrombocythemia.

Essential thrombocythemia or essential thrombocytosis (ET) is an uncommon chronic hematologic disorder in which megakaryocytes in the bone marrow produce excessive platelets (thrombocytes) without any known cause. It is also known as primary thrombocythemia (PT). 

Essential thrombocythemia is one of the four components of a group of conditions called myeloproliferative disorders; the other three members of this group being chronic myelogenous leukemia, polycythemia vera and primary myelofibrosis.

It is primarily a disease of platelets but rarely other cell lineages such as red blood cells and white blood cells are also produced excessively. Essential thrombocythemia mostly occurs in people of the age of 40 to 50 years.

Most common presentations include abnormal bleeding (from the respiratory system, gastrointestinal system and skin), thrombosis, headache, dizziness and abnormal sensations in hands and feet.

The condition needs no treatment if it is symptomless; however, in case of symptomatic disease, platelet-lowering drugs are used along with small doses of aspirin to control thrombotic events.

In patients with proper treatment, the life expectancy is the same as that of a person who is not suffering from this condition.

Essential thrombocythemia is a rare, slowly progressive disease of blood in which a large number of abnormal platelets are produced. These platelets cause abnormal blood clotting or bleeding episodes in the persons suffering from this disorder.

The patients may complain of nose bleeds, blood in stools, early bruising, prolonged bleeding from cuts or other injuries, burning or tingling sensations in palms and soles of the hands and feet respectively.

In some cases, blood clots in large vessels may result in brain stroke or heart attack. In pregnant females, this condition may cause miscarriages.

The disease is treated with medicines which lower the number of platelets and the overall prognosis is good with a normal life expectancy.

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2. Beatrice JM, Garanito MP. Essential thrombocythemia: a rare disease in childhood. Revista brasileira de hematologia e hemoterapia. 2013;35(4):287-289.
3. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. The New England journal of medicine. Apr 28 2005;352(17):1779-1790.
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5. Mozaheb Z. Thromboembolic complication in essential thrombocythemia. The Pan African medical journal. 2012;13:58.
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10. Montanaro M, Latagliata R, Cedrone M, et al. Thrombosis and survival in essential thrombocythemia: A regional study of 1144 patients. American journal of hematology. Jan 31 2014.