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Essential Thrombocythemia

ET

Essential thrombocythemia, also known as essential thrombocytosis or primary thrombocytosis, is a rare, chronic myeloproliferative disorder.

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Essential Thrombocythaemia
Essential Thrombocythaemia
Essential Thrombocythaemia, CC BY-SA 4.0

Presentation

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:

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.

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]
  • Symptoms include dizziness, easy bruising, headache, bloody stools, numbness of the hands or feet, ulcers on the toes or fingers, nosebleeds, prolonged bleeding after surgery or tooth removal, and bleeding from the gums, gastrointestinal and/or urinary[amarillo.com]
  • Blood vessel disturbances or bleeding can result in: Headache Vision disturbances or silent migraines Dizziness or lightheadedness Coldness or blueness of fingers or toes Burning, redness, and pain in the hands and feet Easy bruising, nosebleeds or heavy[hopkinsmedicine.org]
  • 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[medlineplus.gov]
Splenomegaly
  • And the clinical characteristics of ET patients, such as WBC counts, hemoglobin level, splenomegaly and thrombosis, were influenced by JAK2V617F mutation burden.[ncbi.nlm.nih.gov]
  • Polycythemia Vera (PV) and essential thrombocythemia (ET) are myeloproliferative neoplasms respectively characterized by erythrocytosis and thrombocytosis; other disease features include leukocytosis, splenomegaly, thrombosis, bleeding, microcirculatory[ncbi.nlm.nih.gov]
  • We present the case of a 41-year-old woman with thrombocytosis and mild splenomegaly. Clinical suspicion was of chronic myeloproliferative neoplasia (CMN).[ncbi.nlm.nih.gov]
  • Patient characteristics such as age, hemoglobin, hematocrit, platelet counts, lactate dehydrogenase levels, JAK2V617F allele burdens, prevalence of myelofibrosis and splenomegaly, and frequencies of thrombotic events and treatment did not differ between[ncbi.nlm.nih.gov]
  • The primary endpoint for PV was overall response rate (ORR), defined as the proportion of patients with hematocrit 45%, white blood cell count 10 109/L, platelet count 400 109/L, and resolution of palpable splenomegaly, each lasting 4 weeks.[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]
  • Three patients experienced serious AEs (7.7%), with 1 considered related to momelotinib (dyspnea). Peripheral neuropathy occurred in 7 (17.9%) patients (4 PV, 3 ET).[ncbi.nlm.nih.gov]
  • Adverse events: The most common adverse reactions are headache, palpitations, diarrhea, asthenia, edema, nausea, abdominal pain, dizziness, pain, dyspnea, cough, flatulence, vomiting, fever, peripheral edema, rash, chest pain, anorexia, tachycardia, malaise[oatext.com]
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
  • 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]
  • Approximately 40-50% of patients present with splenomegaly; 20% present with hepatomegaly. Causes The etiology and predisposing factors for the development of essential thrombocytosis (primary thrombocythemia) remain unclear.[emedicine.medscape.com]
  • Slight hepatomegaly is seen in about 20% of cases. Lymphadenopathy is not characteristic. Examination of the peripheral blood smear typically shows both an increased number of platelets and giant sized platelets.[cancertherapyadvisor.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]
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]
Stroke
  • 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]
  • Ischemic stroke is one of the most serious complications of ET. The risk factors for thrombotic/ischemic events in patients with ET include age ( 60 years) and previous vascular events.[ncbi.nlm.nih.gov]
  • Cervical artery dissection (CAD) is an important etiology of stroke in young adults. Its etiology is incompletely understood.[ncbi.nlm.nih.gov]
  • 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]
  • Essential thrombocythemia (ET) is a risk factor for ischemic stroke and, far more rarely, hemorrhage.[ncbi.nlm.nih.gov]
Headache
  • Our first case had platelets 1,500,000/mm(3), and a second child was symptomatic with recurrent headache. Both responded well to therapy with hydroxyurea (dose 15-30 mg/kg/day) and tolerated it well.[ncbi.nlm.nih.gov]
  • 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]
  • Side effects are common, especially headache and tachycardia, but usually subside or disappear within a few weeks. Around 20 % of patients stop ANA therapy due to side effects or insufficient response.[ncbi.nlm.nih.gov]
  • 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]
  • Anagrelide was generally well tolerated, with anemia (54.7%) and headache (49.1%) as the most frequent adverse events.[ncbi.nlm.nih.gov]
Dizziness
  • 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]
  • 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]
  • 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]
  • Symptoms include dizziness, easy bruising, headache, bloody stools, numbness of the hands or feet, ulcers on the toes or fingers, nosebleeds, prolonged bleeding after surgery or tooth removal, and bleeding from the gums, gastrointestinal and/or urinary[amarillo.com]
  • Most common presentations include abnormal bleeding (from the respiratory system, gastrointestinal system and skin), thrombosis, headache, dizziness and abnormal sensations in hands and feet.[symptoma.com]
Tingling
  • Symptoms, when they do occur, commonly include: Thrombosis Abnormal bleeding Headaches Tingling in the extremities Pain in the extremities Peripheral Blood Findings The platelet count is greater than 600 x 10 9 /L, frequently 1,000 - 5,000 x 10 9 /L.[labce.com]
  • This occurs in around half of the patients and is noticeable in the fingers and toes through a reddening of the skin, which is accompanied by swelling (erythromelalgia) and a burning and tingling sensation.[aoporphan.com]
  • Some patients with essential thrombocythemia develop erythromelalgia, causing pain, swelling, and redness of the hands and feet, as well as numbness and tingling. Cleveland Clinic is a non-profit academic medical center.[my.clevelandclinic.org]
  • However, some patients may experience the following Headaches Burning or tingling in hands or feet. Redness and warmth in hands or feet. Vision or hearing problems Clotting of the blood vessels and/or increased bleeding.[cancer.columbia.edu]
  • 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]
Paresthesia
  • Symptoms and signs may include weakness, headaches, paresthesias, bleeding, splenomegaly, and erythromelalgia with digital ischemia.[msdmanuals.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]
  • 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]
  • Patients may have complaints of dizziness, light-headed, paresthesia, visual changes, or headaches. Patients may also have findings of bleeding, or alternately thrombosis. B. History Part 2: Prevalence. 2 Females: 1 Males.[clinicaladvisor.com]
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]
  • An 82-year-old woman who had a history of essential thrombocythemia presented with ocular pain, bleeding, and decreased visual acuity of the left eye.[ncbi.nlm.nih.gov]
  • 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]
  • A 73-year-old man presented with acute chest pain and shortness of breath suggestive of unstable angina. A detailed investigation revealed essential thrombocythemia and coronary artery pathology.[ncbi.nlm.nih.gov]
  • A 68-year-old man presented with severe acute chest pain and was diagnosed with STEMI. Primary coronary angiography showed severe stenosis with thrombus in the proximal left anterior descending coronary artery.[ncbi.nlm.nih.gov]
Weakness
  • Symptoms and signs may include weakness, headaches, paresthesias, bleeding, splenomegaly, and erythromelalgia with digital ischemia.[msdmanuals.com]
  • 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]
  • They include: Headache Dizziness or lightheadedness Chest pain Weakness Fainting Temporary vision changes Numbness or tingling of the hands and feet Redness, throbbing and burning pain in the hands and feet (erythromelalgia) Mildly enlarged spleen Less[medicalmarijuana.com]
  • Symptoms of ET include: Headache Dizziness or light-headedness Chest pain Weakness Fainting Vision changes that eventually go away Numbness or tingling in the hands and feet Redness, throbbing, and burning pain in the hands and feet Mildly enlarged spleen[voicesofmpn.com]
Fever
  • […] and marrow fibrosis grade 2 - 3 (on 0 - 3 scale) Additional criteria (2 required) : anemia or decrease in Hb by 2 gm/dL from the baseline level; leukoerythroblastic peripheral blood; splenomegaly; rise in LDH levels; constituitional symptoms including fever[pathologyoutlines.com]
  • […] gastrointestinal (GI) tract, skin, eyes, gums or urinary tract abdominal discomfort or feeling of fullness if the spleen or liver is enlarged tingling in the hands and feet sweating itchiness slightly higher than normal temperature (called a low-grade fever[cancer.ca]
  • 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]
  • Lossos IS, Matzner Y (1995) Hydroxyurea-induced fever: case report and review of the literature. Ann Pharmacother 29:132–133 PubMed Google Scholar 49. Braester A, Quitt M (2000) Hydroxyurea as a cause of drug fever.[link.springer.com]
  • Other symptoms include sweating, low-grade fever, and pruritus. Pregnancy complications are as follows [22] : Spontaneous abortions increase Placental infarctions may occur, resulting in intrauterine growth retardation and fetal death.[emedicine.medscape.com]
Gangrene
  • If not treated with aspirin, ET and PV patients are at a high risk of major arterial thrombosis including stroke, myocardial infarction and digital gangrene.[ncbi.nlm.nih.gov]
  • If left untreated, erythromelalgia usually leads to painful acrocyanosis and gangrene of one or more toes or tips of the finger[ 4 - 12 ].[wjgnet.com]
  • Microvascular occlusion of the toes and fingers causes digital pain; gangrene; or erythromelalgia , which is is characterized by burning pain and dusky extremity congestion The pain increases with exposure to heat and improves with cold; a single dose[emedicine.medscape.com]
  • Aspirin in low doses can be used to control microvascular symptoms such as redness and pain in the fingers and toes, insufficient blood flow (ischemia), infections in the limbs (gangrene), strokes, syncopes, instability or visual disturbances. [1] [4][rarediseases.info.nih.gov]
  • Painful vascular insufficiency may progress to frank gangrene and necrosis of the digits unless treatment is promptly instituted.[medtextfree.wordpress.com]
Burning Pain
  • Symptoms of ET include: Headache Dizziness or light-headedness Chest pain Weakness Fainting Vision changes that eventually go away Numbness or tingling in the hands and feet Redness, throbbing, and burning pain in the hands and feet Mildly enlarged spleen[voicesofmpn.com]
  • 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 (erythromelalgia) Less commonly, essential thrombocythemia[mayoclinic.org]
  • They include: Headache Dizziness or lightheadedness Chest pain Weakness Fainting Temporary vision changes Numbness or tingling of the hands and feet Redness, throbbing and burning pain in the hands and feet (erythromelalgia) Mildly enlarged spleen Less[medicalmarijuana.com]
  • Microvascular occlusion of the toes and fingers causes digital pain; gangrene; or erythromelalgia , which is is characterized by burning pain and dusky extremity congestion The pain increases with exposure to heat and improves with cold; a single dose[emedicine.medscape.com]
  • Others may experience symptoms such as: Heart attack or stroke Persistent or repeated headaches Bruising and bleeding, including nosebleeds or heavy periods Burning pain, redness in hands or feet Gastrointestinal bleeding or blood in the urine Bleeding[mpnvoice.org.uk]
Nausea
  • 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]
  • Symptoms varied and included cerebral ischemic attacks, mental concentration disturbances followed by throbbing headaches, nausea, vomiting, syncope or even seizures.[ncbi.nlm.nih.gov]
  • Most common treatment-emergent adverse events were diarrhea (55.3%) and nausea (42.1%), a majority of which were of grade 1 severity. Best response of clinical improvement was achieved by 29% of myelofibrosis patients.[ncbi.nlm.nih.gov]
  • Nausea. Discomfort in arms, legs, back, neck, jaw or abdomen. In high risk cases clotting in the brain may result in stroke.[symptoma.com]
  • ., deep vein thrombosis or pulmonary embolism ), headache, nausea, vomiting, abdominal pain, visual disturbances, dizziness, fainting , and numbness in the extremities; the most common signs are increased white blood cell count , reduced red blood cell[en.wikipedia.org]
Abdominal Pain
  • ., deep vein thrombosis or pulmonary embolism ), headache, nausea, vomiting, abdominal pain, visual disturbances, dizziness, fainting , and numbness in the extremities; the most common signs are increased white blood cell count , reduced red blood cell[en.wikipedia.org]
  • Adverse events: The most common adverse reactions are headache, palpitations, diarrhea, asthenia, edema, nausea, abdominal pain, dizziness, pain, dyspnea, cough, flatulence, vomiting, fever, peripheral edema, rash, chest pain, anorexia, tachycardia, malaise[oatext.com]
  • As the disease progresses, many patients develop abdominal pain secondary to organomegaly.[clevelandclinicmeded.com]
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
  • This may appear as nosebleeds, bleeding gums or bruising. Rarely, essential thrombocythemia may progress to these potentially life-threatening diseases: Acute myelogenous leukemia.[mayoclinic.org]
  • 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]
  • Monitor clinically for signs of bleeding, bleeding gums, DVT, erthromelalgia. Patients with reactive thrombocytosis, even with platelets 1000 x10 9 /L, will not usually experience vasomotor symptoms or significant bleeding or thrombosis. C.[clinicaladvisor.com]
Thrombosis
  • To better predict the occurrence of thrombotic events, an International Prognostic Score for Thrombosis in Essential Thrombocythemia (IPSET-thrombosis) has recently been proposed.[ncbi.nlm.nih.gov]
  • The patient had experienced previous events of thrombosis, splenic infarction with venous thrombosis, and myocardial infarction.[ncbi.nlm.nih.gov]
  • In ET, risk stratification includes four categories: very low risk (age 60 years, no thrombosis history, JAK2/MPL un-mutated), low risk (age 60 years, no thrombosis history, JAK2/MPL mutated), intermediate risk (age 60 years, no thrombosis history, JAK2[ncbi.nlm.nih.gov]
  • The role of antiplatelet therapy as primary prophylaxis of thrombosis in low-risk essential thrombocythemia has not been studied in randomized clinical trials.[ncbi.nlm.nih.gov]
  • We currently consider three major risk factors for thrombosis (history of thrombosis, JAK2/MPL mutations, and advanced age), in order to group ET patients into four risk categories: "very low risk" (absence of all three risk factors); "low risk" (presence[ncbi.nlm.nih.gov]
Leg Pain
  • 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 Hoffman R, Kremyanskaya M, Najfeld V, Mascarenhas J. Essential thrombocythemia.[ufhealth.org]
  • Pain 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]
  • pains Coldness or blueness of fingers or toes Vision disturbances or silent migraines Diagnostic tests If your haematologist suspects you have ET, he or she may suggest some of the following tests: Full blood count (blood test): The full blood count[mpnvoice.org.uk]
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]
  • pain, pruritus and dyspepsia.[oatext.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]
  • 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]
  • How I manage patients with ET Low-dose aspirin In ET, aspirin, 100 mg daily, has been found to control microvascular symptoms, such as erythromelalgia, and transient neurological and ocular disturbances including dysarthria, hemiparesis, scintillating scotomas[nature.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]
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]
  • […] 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 Absent Clinical/Other B symptoms Hypertension, thrombosis, pruritus[surgpathcriteria.stanford.edu]
  • Other symptoms include sweating, low-grade fever, and pruritus. Pregnancy complications are as follows [22] : Spontaneous abortions increase Placental infarctions may occur, resulting in intrauterine growth retardation and fetal death.[emedicine.medscape.com]
  • […] adverse reactions are headache, palpitations, diarrhea, asthenia, edema, nausea, abdominal pain, dizziness, pain, dyspnea, cough, flatulence, vomiting, fever, peripheral edema, rash, chest pain, anorexia, tachycardia, malaise, paresthesia, back pain, pruritus[oatext.com]
  • Parameters examined for possible association included age, sex, risk category, 16 , 17 karyotype, thrombosis history, leukocyte count, hemoglobin level, platelet count, palpable splenomegaly, pruritus, and microvascular symptoms.[bloodadvances.org]
Night Sweats
  • sweats, 10% weight loss in 6 months Microscopic (histologic) images Images hosted on PathOut server: Peripheral blood: Clusters of large platelets (platelet count is 1700K) Increased megakaryocytes (many megakaryocytes are unusually large) in mildly[pathologyoutlines.com]
  • 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]
  • 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]
  • Palpable spleens were resolved in three out of four subjects and reductions in patient-reported symptom scores for pruritus, night sweats and bone pain were observed.[nature.com]
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[icd10data.com]
  • Bierling P, Divine M, Farcet JP, Wallet P, Duedari N: Persistent remission of adult chronic autoimmune thrombocytopenic purpura after treatment with high-dose intravenous immunoglobulin. Am J Haematol 25:271, 1987. 37.[medtextfree.wordpress.com]
Petechiae
  • 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]
Epistaxis
  • 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]
  • The other four patients, who were in the control group (median age, 61 years; range, 61 to 82), had bleeding times ranging from 3.5 to 5 minutes at enrollment and had a total of three mild episodes of epistaxis and one minor gastrointestinal hemorrhage[nejm.org]
  • 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]

Workup

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.[mayoclinic.org]
Thrombocytosis
  • The patient was evaluated for thrombocytosis because he was in remission and suffering persistent thrombocytosis under treatment. After excluding the causes of secondary thrombocytosis, bone marrow aspiration and biopsy was performed.[ncbi.nlm.nih.gov]
  • A correct diagnosis is essential for the management of persistent thrombocytosis.[ncbi.nlm.nih.gov]
  • In light of the findings from previous reports, screening for the JAK2-V617F mutation should be considered for any Ph( ) CML patients with thrombocytosis, leukocytosis, or erythrocytosis at diagnosis and for patients who subsequently develop thrombocytosis[ncbi.nlm.nih.gov]
  • Thrombocytosis is common in infancy and childhood. Essential thrombocythemia (ET), a myeloproliferative disorder, is a much less common cause of thrombocytosis in childhood.[ncbi.nlm.nih.gov]
  • In this brief review of ET, we introduce a rare CALR mutation through a case presentation of a 58-year-old man with diffuse pulmonary emboli in the setting of thrombocytosis.[ncbi.nlm.nih.gov]
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]
  • 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]

Treatment

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.

Prognosis

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:

Etiology

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].

Epidemiology

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].

Sex distribution
Age distribution

Pathophysiology

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.

Prevention

There are no guidelines for prevention of essential thrombocythemia.

Summary

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.

Patient Information

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.

References

Article

  1. Johansson P. Epidemiology of the myeloproliferative disorders polycythemia vera and essential thrombocythemia. Seminars in thrombosis and hemostasis. Apr 2006;32(3):171-173.
  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.
  4. Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer cell. Apr 2005;7(4):387-397.
  5. Mozaheb Z. Thromboembolic complication in essential thrombocythemia. The Pan African medical journal. 2012;13:58.
  6. Reikvam H, Tiu RV. Venous thromboembolism in patients with essential thrombocythemia and polycythemia vera. Leukemia. Apr 2012;26(4):563-571.
  7. Kirito K. Classification and diagnosis of essential thrombocythemia. Rinsho byori. The Japanese journal of clinical pathology. Jun 2012;60(6):553-559.
  8. Cervantes F. Management of essential thrombocythemia. Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program. 2011;2011:215-221.
  9. Barbui T, Finazzi MC, Finazzi G. Front-line therapy in polycythemia vera and essential thrombocythemia. Blood reviews. Sep 2012;26(5):205-211.
  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.

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Last updated: 2018-06-21 21:52