Polycythemia vera
Última actualización 18 Aug 2020
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Polycythemia vera is a condition characterised by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells and platelets cause the blood to be thicker than normal. As a result, abnormal blood clots are more likely to form and block the flow of blood through arteries and veins. Individuals with polycythemia vera have an increased risk of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Affected individuals also have an increased risk of heart attack and stroke caused by blood clots in the heart and brain.
Descripción
Polycythemia vera is a condition characterised by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells and platelets cause the blood to be thicker than normal. As a result, abnormal blood clots are more likely to form and block the flow of blood through arteries and veins. Individuals with polycythemia vera have an increased risk of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Affected individuals also have an increased risk of heart attack and stroke caused by blood clots in the heart and brain.
Polycythemia vera typically develops in adulthood, around age 60, although in rare cases it occurs in children and young adults. This condition may not cause any symptoms in its early stages. Some people with polycythemia vera experience headaches, dizziness, ringing in the ears (tinnitus), impaired vision, or itchy skin. Affected individuals frequently have reddened skin because of the extra red blood cells. Other complications of polycythemia vera include an enlarged spleen (splenomegaly), stomach ulcers, gout (a form of arthritis caused by a buildup of uric acid in the joints), heart disease, and cancer of blood-forming cells (leukemia).
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant; Not inherited. More than one pattern can apply in different cases.
Related genes
Otros nombres
Osler-Vaquez disease
Polycythemia ruba vera
Primary polycythemia
PRV
PV
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Lecturas adicionales y referencias
- Polycythemia vera; MedlinePlus, National Library of Medicine.
- Cario H, McMullin MF, Pahl HL. Clinical and hematological presentation of children and adolescents with polycythemia vera. Ann Hematol. 2009 Aug;88(8):713-9. doi: 10.1007/s00277-009-0758-y. Epub 2009 May 26.
- Delhommeau F, Jeziorowska D, Marzac C, Casadevall N. Molecular aspects of myeloproliferative neoplasms. Int J Hematol. 2010 Mar;91(2):165-73. doi: 10.1007/s12185-010-0530-z. Epub 2010 Feb 27.
- Gangat N, Strand J, Lasho TL, Finke CM, Knudson RA, Pardanani A, Li CY, Ketterling RP, Tefferi A. Cytogenetic studies at diagnosis in polycythemia vera: clinical and JAK2V617F allele burden correlates. Eur J Haematol. 2008 Mar;80(3):197-200. doi: 10.1111/j.1600-0609.2007.01003.x. Epub 2007 Dec 7.
- Landolfi R, Nicolazzi MA, Porfidia A, Di Gennaro L. Polycythemia vera. Intern Emerg Med. 2010 Oct;5(5):375-84. doi: 10.1007/s11739-010-0369-6. Epub 2010 Mar 16.
- Mehta J, Wang H, Iqbal SU, Mesa R. Epidemiology of myeloproliferative neoplasms in the United States. Leuk Lymphoma. 2014 Mar;55(3):595-600. doi: 10.3109/10428194.2013.813500. Epub 2013 Jul 29.
- 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.
- Thiele J, Kvasnicka HM. The 2008 WHO diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis. Curr Hematol Malig Rep. 2009 Jan;4(1):33-40. doi: 10.1007/s11899-009-0005-6.
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