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| {{Infobox_Disease | | | __NOTOC__ |
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| | {{Polycythemia vera}} |
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| | {{CMG}}; {{AE}} {{IO}}, {{MJK}}, {{shyam}} |
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| DiseasesDB = |
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| ICD10 = {{ICD10|D|45||d|37}} |
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| ICD9 = {{ICD9|238.4}} |
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| ICDO = 9950/3 |
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| MeshID = D011087 |
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| {{CMG}} | | {{SK}} Erythemia; Osler-Vaquez disease; polycythemia rubra vera; Primary polycythemia; Vaques-Osler arythremia; Vaquez' polycythaemia; Vaquez-Osler disease |
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| {{Polycythemia vera}}
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| ==[[Polycythemia vera overview|Overview]]== | | ==[[Polycythemia vera overview|Overview]]== |
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| ==[[Polycythemia vera epidemiology and demographics|Epidemiology & Demographics]]== | | ==[[Polycythemia vera historical perspective|Historical Perspective]]== |
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| '''Polycythemia vera''' occurs in all age groups (including children),<ref>{{cite journal | author = Passamonti F, Malabarba L, Orlandi E, Baratè C, Canevari A, Brusamolino E, Bonfichi M, Arcaini L, Caberlon S, Pascutto C, Lazzarino M | title = Polycythemia vera in young patients: a study on the long-term risk of thrombosis, myelofibrosis and leukemia. | journal = Haematologica | volume = 88 | issue = 1 | pages = 13-8 | year = 2003 | id = PMID 12551821}}</ref> although the incidence increases with age. One study found the median age at diagnosis to be 60 years,<ref name="pvsg">Berlin, NI. (1975). "Diagnosis and classification of polycythemias". ''Semin Hematol'' '''12''': 339.</ref> while a study in Olmsted County, Minnesota found that the highest incidence was in people aged 70–79 years.<ref name="olmsted">{{cite journal | author = Anía B, Suman V, Sobell J, Codd M, Silverstein M, Melton L | title = Trends in the incidence of polycythemia vera among Olmsted County, Minnesota residents, 1935-1989. | journal = Am J Hematol | volume = 47 | issue = 2 | pages = 89-93 | year = 1994 | id = PMID 8092146}}</ref> The overall incidence in the Minnesota population was 1.9 per 100,000 person-years, and the disease was more common in men than women.<ref name="olmsted"/>
| | ==[[Polycythemia vera classification|Classification]]== |
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| ==[[Polycythemia vera history and symptoms|History & Symptoms]]== | | ==[[Polycythemia vera pathophysiology|Pathophysiology]]== |
| Patients with polycythemia vera are often [[asymptomatic]]. A classic symptom of polycythemia vera is [[pruritis|generalized itching]], particularly after exposure to warm water, which may be due to abnormal [[histamine]] release<ref>{{cite journal | author = Steinman H, Kobza-Black A, Lotti T, Brunetti L, Panconesi E, Greaves M | title = Polycythaemia rubra vera and water-induced pruritus: blood histamine levels and cutaneous fibrinolytic activity before and after water challenge. | journal = Br J Dermatol | volume = 116 | issue = 3 | pages = 329-33 | year = 1987 | id = PMID 3567071}}</ref><ref>{{cite journal | author = Jackson N, Burt D, Crocker J, Boughton B | title = Skin mast cells in polycythaemia vera: relationship to the pathogenesis and treatment of pruritus. | journal = Br J Dermatol | volume = 116 | issue = 1 | pages = 21-9 | year = 1987 | id = PMID 3814512}}</ref> or [[prostaglandin]] production.<ref>{{cite journal | author = Fjellner B, Hägermark O | title = Pruritus in polycythemia vera: treatment with aspirin and possibility of platelet involvement. | journal = Acta Derm Venereol | volume = 59 | issue = 6 | pages = 505-12 | year = 1979 | id = PMID 94209}}</ref> Such itching is present in approximately 40% of patients with polycythemia vera.<ref name="pvsg"/> [[Gout|Gouty arthritis]] may be present in up to 20% of patients.<ref name="pvsg"/> [[Peptic ulcer disease]] is also common in patients with polycythemia vera; the reasons for this are unclear, but may be related to an increased susceptibility to infection with the ulcer-causing bacterium ''[[Helicobacter pylori|H. pylori]]''.<ref>{{cite journal | author = Torgano G, Mandelli C, Massaro P, Abbiati C, Ponzetto A, Bertinieri G, Bogetto S, Terruzzi E, de Franchis R | title = Gastroduodenal lesions in polycythaemia vera: frequency and role of Helicobacter pylori. | journal = Br J Haematol | volume = 117 | issue = 1 | pages = 198-202 | year = 2002 | id = PMID 11918555}}</ref>
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| A rare but classic symptom of polycythemia vera (and the related myeloproliferative disease [[essential thrombocythemia]]) is [[erythromelalgia]].<ref>{{cite journal | author = van Genderen P, Michiels J | title = Erythromelalgia: a pathognomonic microvascular thrombotic complication in essential thrombocythemia and polycythemia vera. | journal = Semin Thromb Hemost | volume = 23 | issue = 4 | pages = 357-63 | year = 1997 | id = PMID 9263352}}</ref> This is a sudden, severe burning pain in the hands or feet, usually accompanied by a reddish or [[cyanosis|bluish]] coloration of the skin. Erythromelalgia is caused by an increased platelet count or increased platelet "stickiness", resulting in the formation of tiny blood clots in the vessels of the extremity; it responds rapidly to treatment with [[aspirin]].<ref>{{cite journal | author = Michiels J | title = Erythromelalgia and vascular complications in polycythemia vera. | journal = Semin Thromb Hemost | volume = 23 | issue = 5 | pages = 441-54 | year = 1997 | id = PMID 9387203}}</ref><ref>{{cite journal | author = Landolfi R, Ciabattoni G, Patrignani P, Castellana M, Pogliani E, Bizzi B, Patrono C | title = Increased thromboxane biosynthesis in patients with polycythemia vera: evidence for aspirin-suppressible platelet activation in vivo. | journal = Blood | volume = 80 | issue = 8 | pages = 1965-71 | year = 1992 | id = PMID 1327286}}</ref>
| | ==[[Polycythemia vera differential diagnosis|Differentiating Polycythemia vera from other Diseases]]== |
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| Patients with polycythemia vera are prone to the development of blood clots ([[thrombosis]]). A major thrombotic complication (e.g. [[myocardial infarction|heart attack]], [[stroke]], [[deep venous thrombosis]], or [[Budd-Chiari syndrome]]) may sometimes be the first symptom or indication that a person has polycythemia vera.
| | ==[[Polycythemia vera epidemiology and demographics|Epidemiology and Demographics]]== |
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| ==Diagnosis== | | ==[[Polycythemia vera risk factors|Risk Factors]]== |
| Patients with polycythemia vera may often be [[asymptomatic]]. Physical exam findings are non-specific, but may include [[hepatosplenomegaly|enlarged liver or spleen]], [[plethora]], or [[tophus|gouty nodules]]. The diagnosis is often suspected on the basis of laboratory tests. Common findings include an elevated hemoglobin level or [[hematocrit]], reflecting the increased number of red blood cells; the [[platelet count]] or [[white blood cell count]] may also be increased. Because polycythemia vera results from an essential increase in erythrocyte production, patients have a low erythropoietin (EPO) level.
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| In primary polycythemia, there may be 8 to 9 million and occasionally 11 million erythrocytes per cubic millimeter of blood (a normal range for adults is 4-6), and the [[hematocrit]] may be as high as 70 to 80%. In addition, the total blood volume sometimes increases to as much as twice normal. The entire vascular system can become markedly engorged with blood, and circulation times for blood throughout the body can increase up to twice the normal value. The increased numbers of [[erythrocyte]]s can cause the [[viscosity]] of the blood to increase as much as five times normal. Capillaries can become plugged by the very viscous blood, and the flow of blood through the vessels tends to be extremely sluggish.
| | ==[[Polycythemia vera screening|Screening]]== |
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| Recently, in 2005, a mutation in the [[JAK2]] kinase (V617F) was found by multiple research groups <ref>{{cite journal | author=Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR | title=Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders | journal=Lancet | year=2005 | pages=1054-61 | volume=365 | issue=9464 | id=PMID 15781101}}</ref><ref>{{cite journal | author=Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, Adelsperger J, Koo S, Lee JC, Gabriel S, Mercher T, D'Andrea A, Frohling S, Dohner K, Marynen P, Vandenberghe P, Mesa RA, Tefferi A, Griffin JD, Eck MJ, Sellers WR, Meyerson M, Golub TR, Lee SJ, Gilliland DG | title=Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis | journal=Cancer Cell | year=2005 | pages=387-97 | volume=7 | issue=4 | id=PMID 15837627}}</ref> to be strongly associated with polycythemia vera. ''JAK2'' is a member of the [[Janus kinase]] family. This mutation may be helpful in making a diagnosis or as a target for future therapy.
| | ==[[Polycythemia vera natural history, complications, and prognosis|Natural History, Complications and Prognosis]]== |
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| As a consequence of the above, people with untreated PV are at a risk of various [[thrombosis|thrombotic]] events ([[deep venous thrombosis]], [[pulmonary embolism]]), [[myocardial infarction|heart attack]] and [[stroke]], and have a substantial risk of [[Budd-Chiari syndrome]] (hepatic vein thrombosis), or [[Myelofibrosis]]. The condition is considered chronic; no cure exists. Symptomatic treatment (see below) can normalize the blood count and most patients can live a normal life for years.
| | ==Diagnosis== |
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| | [[Polycythemia vera diagnostic criteria|Diagnostic Criteria]] | [[Polycythemia vera history and symptoms|History and Symptoms]] | [[ Polycythemia vera physical examination|Physical Examination]] | [[Polycythemia vera laboratory tests|Laboratory Findings]] | [[Polycythemia vera electrocardiogram|Electrocardiogram]] | [[Polycythemia vera x-ray|X-ray]] | [[Polycythemia vera CT|CT]] | [[Polycythemia vera MRI|MRI]] | [[Polycythemia vera ultrasound|Ultrasound]] | [[Polycythemia vera other imaging findings|Other Imaging Findings]] | [[Polycythemia vera other diagnostic studies|Other Diagnostic Studies]] |
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| ==Treatment== | | ==Treatment== |
| As the condition cannot be cured, treatment focuses on treating symptoms and reducing thrombotic complications reducing the erythrocyte levels.
| | [[Polycythemia vera medical therapy|Medical Therapy]] | [[Polycythemia vera surgery |Surgery]] | [[Polycythemia vera primary prevention|Primary Prevention]] | [[Polycythemia vera secondary prevention|Secondary Prevention]] | [[Polycythemia vera cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Polycythemia vera future or investigational therapies|Future or Investigational Therapies]] |
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| [[Bloodletting]] or phlebotomy is one form of treatment, which often may be combined with other therapies. The removal of blood from the body reduces the blood volume and brings down the hematocrit levels; in patients with polycythemia vera, this reduces the risk of blood clots. Phlebotomy is typically performed in people with polycythemia vera to bring their [[hematocrit]] (red blood cell percentage) down below 45 for men or 42 for women.<ref>{{cite journal |author=Streiff MB, Smith B, Spivak JL |title=The diagnosis and management of polycythemia vera in the era since the Polycythemia Vera Study Group: a survey of American Society of Hematology members' practice patterns |journal=Blood |volume=99 |issue=4 |pages=1144-9 |year=2002 |pmid=11830459}}</ref> | |
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| Low dose [[aspirin]] is often prescribed. Research has shown that aspirin reduces the risk for various thrombotic complications.
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| [[Chemotherapy]] for polycythemia may be used sparingly, when the rate of bloodlettings required to maintain normal hematocrit is not acceptable. This is usually with a "cytoreductive agent" ([[hydroxyurea]], also known as [[hydroxycarbamide]]). | | ==Case Studies== |
| | [[Polycythemia vera case study one|Case #1]] |
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| The tendency to avoid chemotherapy if possible, especially in young patients, is due to research indicating increased risk of transformation to [[acute myelogenous leukemia|AML]], and while hydroxyurea is considered safer in this aspect, there is still some debate about its long-term safety.
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| In the past, injection of radioactive isotopes was used as another means to suppress the bone marrow. Such treatment is now avoided due to a high rate of AML transformation.
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| Other therapies include [[interferon]] injections, and in cases where secondary [[thrombocytosis]] (high [[platelet]] count) is present, [[anagrelide]] may be prescribed.
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| [[Bone marrow transplant]]s are rarely undertaken in polycythemia patients - since this condition is non-fatal if treated and monitored, the benefits rarely outweigh the risks involved in such a procedure.
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| ==External links==
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| * [http://members.aol.com/mpdsupport Myeloproliferative Disease Support Group, since 1994]
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| * [http://www.mpdinfo.org/ Myeloproliferative Disorders (CMPD Education Foundation)]
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| * [http://www.mpdfoundation.org MPD Foundation and Research Alliance - Register for a free newsleter]
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| ==References==
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| {{Reflist|2}}
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| {{Hematology}} | | {{Hematology}} |
| {{Hematological malignancy histology}} | | {{Hematological malignancy histology}} |
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| [[de:Polycythaemia vera]]
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