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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
  • 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]
  • 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]
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]
  • 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]
  • The primary endpoint for PV was overall response rate (ORR), defined as the proportion of patients with hematocrit 9 /L, platelet count 400 10 9 /L, and resolution of palpable splenomegaly, each lasting 4 weeks.[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]
  • Other disease features include leukocytosis, splenomegaly, thrombohemorrhagic complications, vasomotor disturbances, pruritus, and a small risk of disease progression into acute leukemia or myelofibrosis.[ncbi.nlm.nih.gov]
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]
  • The heart A blood clot in the heart may cause chest pain, and in severe cases can result in a heart attack. The lungs A blood clot in the lung may cause breathlessness and chest pain. This is known as a pulmonary embolism.[web.archive.org]
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]
  • Depending on where the clot is located, symptoms may include: Headache Dizziness or lightheadedness Weakness Fainting Chest pains Changes in vision changes Numbness, redness, tingling, or a burning sensation in the hands and feet Less commonly, abnormal[verywell.com]
Fever
  • […] 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]
  • […] fibrosis grade 2 - 3 (on 0 - 3 scale) Additional criteria (2 required) : Anemia or decrease in hemoglobin by 2 gm / dL from the baseline level Leukoerythroblastic peripheral blood Splenomegaly Rise in LDH levels Constitutional symptoms (at least 2): fever[pathologyoutlines.com]
  • Other symptoms include sweating, low-grade fever, and pruritus. Pregnancy complications are as follows [19] : Spontaneous abortions increase Placental infarctions may occur, resulting in intrauterine growth retardation and fetal death.[emedicine.medscape.com]
  • Hypersensitivity reactions, such as fevers, rash or other allergic-type symptoms are uncommon.[rarediseases.org]
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 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]
  • Erythromelalgia (burning pain in hands and feet, with warmth, erythema, and sometimes digital ischemia) may occur. The spleen may be palpable but significant splenomegaly is unusual and should suggest another myeloproliferative neoplasm.[merckmanuals.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]
  • 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]
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]
  • 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]
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). TRIAL REGISTRATION: ClinicalTrials.gov NCT01998828 . Copyright 2017 The Authors.[ncbi.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]
  • 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]
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]
  • […] 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]
  • 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]
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]
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]
  • CONTEXT: Stroke following scorpion stings is rare.[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]
  • Essential thrombocythemia (ET) is a risk factor for ischemic stroke and, far more rarely, hemorrhage.[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]
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]
  • 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]
  • 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]
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]
  • Symptoms of blood clots 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[nlm.nih.gov]
  • Side effects include flu-like symptoms, dizziness and tiredness ( fatigue ). Anagrelide Anagrelide is a drug that reduces the number of platelets in the blood. It's given as a capsule.[web.archive.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
  • 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]
  • Symptoms of blood clots 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[nlm.nih.gov]
  • 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]
Confusion
  • If it occurs in the brain, there may be mental confusion or, in more serious cases, a stroke. Every year, there is one new case of ET per 100,000 people.[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]
  • 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.[symptoma.com]
  • 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]
  • Polycythemia vera can initially manifest with thrombocytosis and be confused with essential thrombocythemia (thrombocytosis may predominate in polycythemia vera either because of plasma volume expansion or because the other manifestations of polycythemia[merckmanuals.com]
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]
  • Nausea. Discomfort in arms, legs, back, neck, jaw or abdomen. In high risk cases clotting in the brain may result in stroke.[symptoma.com]
  • 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]
  • ., 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 count[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 count[en.wikipedia.org]
  • ., 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]
  • Significantly more patients withdrew from the anagrelide group because of side effects (88 vs. 43, P The rates of nonthrombotic cardiovascular events (particularly palpitations), gastrointestinal events (especially diarrhea and abdominal pain), noncardiac[dx.doi.org]
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]
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]
Bleeding Gums
  • They can include: nosebleeds bruising abnormal vaginal bleeding bleeding gums. If you develop any of these symptoms in between check-ups, you should discuss them with your doctor or haematologist (a specialist in blood disorders).[web.archive.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
  • The patient had experienced previous events of thrombosis, splenic infarction with venous thrombosis, and myocardial infarction.[ncbi.nlm.nih.gov]
  • 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]
  • […] to estimate the likelihood of recurrent thrombosis.[ncbi.nlm.nih.gov]
  • Intriguing data also point to the JAK2V617F mutation as both a marker and a mechanism for thrombosis.[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]
  • pain, swelling, or both with lower extremity thrombosis; chest pain and dyspnea with pulmonary embolism).[merckmanuals.com]
  • 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]
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]
  • Other disease features include leukocytosis, splenomegaly, thrombohemorrhagic complications, vasomotor disturbances, pruritus, and a small risk of disease progression into acute leukemia or myelofibrosis.[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]
  • […] polycythemia vera; polycythemia vera patients also present with decreased erythropoietin (EPO) Polycythemia vera patients usually present with some symptoms related to hyperviscosity such as headaches or visual disturbance; some patients may present with pruritus[pathologyoutlines.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 and[icd10data.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]
  • Hydroxyurea Toxicity Mean Platelet Volume, Platelet Distribution Width, and Platelet Count, in Connection with Immune Thrombocytopenic Purpura and Essential Thrombocytopenia.[malattieemorragiche.it]
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]
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]
  • 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]
  • 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]

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
  • 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
  • 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]
  • Convert to ICD-10-CM : 238.71 converts approximately to: 2015/16 ICD-10-CM D47.3 Essential (hemorrhagic) thrombocythemia Approximate Synonyms Thrombocytosis Thrombocytosis (high blood platelets) Clinical Information A chronic myeloproliferative disorder[icd9data.com]
  • A correct diagnosis is essential for the management of persistent thrombocytosis.[ncbi.nlm.nih.gov]
  • […] primary Thrombocytosis familial thrombocytosis hereditary thrombocythemia hemorrhagic thrombocythemia Primary Thrombocythemia essential thrombocytemia ET essential thrombocytosis Idiopathic thrombocythemia Thrombocythemia type 1 THCYT1 THROMBOCYTHEMIA[wikidata.org]
  • 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]
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]

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

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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.
  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: 2019-07-11 20:32