Essential thrombocythemia
Senast uppdaterad 18 aug 2020
Uppfyller patientens redaktionella riktlinjer
- Ladda nerLadda ner
- Dela
- Language
- Diskussion
- Ljudversion
- Lägg till i föredragna källor på Google
Essential thrombocythemia is a condition characterised by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cells involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets.
Beskrivning
Essential thrombocythemia is a condition characterised by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cells involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets.
Abnormal blood clotting (thrombosis) is common in people with essential thrombocythemia and causes many signs and symptoms of this condition. Clots that block blood flow to the brain can cause strokes or temporary stroke-like episodes known as transient ischemic attacks. Thrombosis in the legs can cause leg pain, swelling, or both. In addition, clots can travel to the lungs (pulmonary embolism), blocking blood flow in the lungs and causing chest pain and difficulty breathing (dyspnea).
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. It is thought that bleeding occurs because a specific protein in the blood that helps with clotting is reduced, although why the protein is reduced is unclear.
Other signs and symptoms of essential thrombocythemia include an enlarged spleen (splenomegaly); weakness; headaches; or a sensation in the skin of burning, tingling, or prickling. Some people with essential thrombocythemia have episodes of severe pain, redness, and swelling (erythromelalgia), which commonly occur in the hands and feet.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Essentiell trombocytos
Primary thrombocythemia
Primary thrombocytosis
Related patient information and medicines
Patient information leaflet
Myelofibros
Myelofibros is a condition affecting the bone marrow and its blood cell production. Myelofibros is a serious bone marrow disorder that disrupts your body's normal production of blood cells. Secondary myelofibrosis can be caused by other conditions such as essential thrombocythaemia eller polycytemi rubra vera. Risk factors for myelofibrosis.
Patient information leaflet
Kan jag ta Amlodipin och Valsartan tillsammans?
Tar these two medicines together can cause your blood pressure to drop lower than if you took either one alone. While this is often the intended goal of treatment, it can sometimes lead to symptoms like dizziness, lightheadedness, or fainting, especially when you stand up quickly. There is also a small risk of your kidney function being.
Patient information leaflet
Kan jag ta Empagliflozin och Losartan tillsammans?
Losartan helps relax blood vessels and can cause the body to keep hold of potassium. Empagliflozin is a 'water tablet' (diuretic) type of medicine that makes you lose more fluid through your urine. Together, they can cause you to lose too much fluid (dehydration) or put extra strain on the kidneys. Ansvarsfriskrivning This information is for general.
Patient information leaflet
Komplementär och alternativ medicin
For example, a chiropractor may treat back pain without any other treatment being received (alternative), or may provide the same treatment in addition to you taking conventional medicines for pain re... Conventional or standard medicine Conventional (or standard) medical care is used to describe the system in which doctors and other healthcare.
Patient information leaflet
Utvidgat spektrum beta-laktamaser
Skin and soft tissue in... So, in fact, practically any area of the body can be infected with E. coli , although some areas are only rarely infected. Other diseases Other diseases associated with E. coli include haemolytic uraemic syndrome (HUS) och thrombotic thrombocytopenic purpura (TTP). These are rare but serious diseases that occur as a.
Patient information leaflet
Höjdsjuka
Höjdsjuka kan affect people who climb or travel (ascend) to more than 2500 metres (8,000 feet) altitude, particularly if they ascend too quickly. For most people, it causes mild symptoms that improve with rest and with time spent getting used to altitude. However, in some people, it can lead to serious symptoms which can become.
Vidare läsning och referenser
- Essential thrombocythemia; MedlinePlus, National Library of Medicine.
- Chaligne R, Tonetti C, Besancenot R, Roy L, Marty C, Mossuz P, Kiladjian JJ, Socie G, Bordessoule D, Le Bousse-Kerdiles MC, Vainchenker W, Giraudier S. New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition. Leukemia. 2008 Aug;22(8):1557-66. doi: 10.1038/leu.2008.137. Epub 2008 Jun 5.
- Ding J, Komatsu H, Iida S, Yano H, Kusumoto S, Inagaki A, Mori F, Ri M, Ito A, Wakita A, Ishida T, Nitta M, Ueda R. The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity. Blood. 2009 Oct 8;114(15):3325-8. doi: 10.1182/blood-2008-04-149047. Epub 2009 May 29.
- Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, Them NC, Berg T, Gisslinger B, Pietra D, Chen D, Vladimer GI, Bagienski K, Milanesi C, Casetti IC, Sant'Antonio E, Ferretti V, Elena C, Schischlik F, Cleary C, Six M, Schalling M, Schonegger A, Bock C, Malcovati L, Pascutto C, Superti-Furga G, Cazzola M, Kralovics R. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013 Dec 19;369(25):2379-90. doi: 10.1056/NEJMoa1311347. Epub 2013 Dec 10.
- Majka M, Ratajczak J, Villaire G, Kubiczek K, Marquez LA, Janowska-Wieczorek A, Ratajczak MZ. Thrombopoietin, but not cytokines binding to gp130 protein-coupled receptors, activates MAPKp42/44, AKT, and STAT proteins in normal human CD34+ cells, megakaryocytes, and platelets. Exp Hematol. 2002 Jul;30(7):751-60. doi: 10.1016/s0301-472x(02)00810-x.
- Merck Manual for Health Care Professionals: Essential Thrombocythemia
- Nangalia J, Massie CE, Baxter EJ, Nice FL, Gundem G, Wedge DC, Avezov E, Li J, Kollmann K, Kent DG, Aziz A, Godfrey AL, Hinton J, Martincorena I, Van Loo P, Jones AV, Guglielmelli P, Tarpey P, Harding HP, Fitzpatrick JD, Goudie CT, Ortmann CA, Loughran SJ, Raine K, Jones DR, Butler AP, Teague JW, O'Meara S, McLaren S, Bianchi M, Silber Y, Dimitropoulou D, Bloxham D, Mudie L, Maddison M, Robinson B, Keohane C, Maclean C, Hill K, Orchard K, Tauro S, Du MQ, Greaves M, Bowen D, Huntly BJP, Harrison CN, Cross NCP, Ron D, Vannucchi AM, Papaemmanuil E, Campbell PJ, Green AR. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013 Dec 19;369(25):2391-2405. doi: 10.1056/NEJMoa1312542. Epub 2013 Dec 10.
- Rumi E, Pietra D, Ferretti V, Klampfl T, Harutyunyan AS, Milosevic JD, Them NC, Berg T, Elena C, Casetti IC, Milanesi C, Sant'antonio E, Bellini M, Fugazza E, Renna MC, Boveri E, Astori C, Pascutto C, Kralovics R, Cazzola M; Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative Investigators. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood. 2014 Mar 6;123(10):1544-51. doi: 10.1182/blood-2013-11-539098. Epub 2013 Dec 23.
- Saint-Martin C, Leroy G, Delhommeau F, Panelatti G, Dupont S, James C, Plo I, Bordessoule D, Chomienne C, Delannoy A, Devidas A, Gardembas-Pain M, Isnard F, Plumelle Y, Bernard O, Vainchenker W, Najman A, Bellanne-Chantelot C; French Group of Familial Myeloproliferative Disorders. Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms. Blood. 2009 Aug 20;114(8):1628-32. doi: 10.1182/blood-2009-01-197525. Epub 2009 Jun 29.
- Tefferi A, Pardanani A, Lim KH, Abdel-Wahab O, Lasho TL, Patel J, Gangat N, Finke CM, Schwager S, Mullally A, Li CY, Hanson CA, Mesa R, Bernard O, Delhommeau F, Vainchenker W, Gilliland DG, Levine RL. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia. 2009 May;23(5):905-11. doi: 10.1038/leu.2009.47. Epub 2009 Mar 5.
- Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia. 2010 Jun;24(6):1128-38. doi: 10.1038/leu.2010.69. Epub 2010 Apr 29.
- Wiestner A, Schlemper RJ, van der Maas AP, Skoda RC. An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nat Genet. 1998 Jan;18(1):49-52. doi: 10.1038/ng0198-49.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Sept 2014 | Ursprungligen publicerad
Delta i konversationen
Dela dina tankar eller erfarenheter med andra i vår patientgemenskaper.
Fråga, dela, anslut.
Bläddra i diskussioner, ställ frågor och dela erfarenheter inom hundratals hälsorelaterade ämnen.
Anmäl dig till Patientens nyhetsbrev
Din veckovisa dos av tydliga, pålitliga hälsoråd - skrivna för att hjälpa dig känna dig informerad, självsäker och i kontroll.
Genom att prenumerera accepterar du våra Sekretesspolicy. Du kan avsluta prenumerationen när som helst. Vi säljer aldrig dina uppgifter.