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Acquired polycythemia vera(PRV; PV)

MedGen UID:
45996
Concept ID:
C0032463
Neoplastic Process
Synonyms: Polycythemia rubra vera; Polycythemia vera; Polycythemia vera, somatic; Suspected polycythemia vera
SNOMED CT: Vaquez's disease (109992005); Osler-Vaquez syndrome (109992005); Polycythemia vera (clinical) (109992005); Proliferative polycythemia (128841001); Polycythemia rubra vera (128841001); Polycythemia vera (128841001); Polycythemia rubra vera (109992005); Polycythemia vera (109992005); PPP - Primary proliferative polycythemia (109992005); Primary proliferative polycythemia (109992005); PRV - Polycythemia rubra vera (109992005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): JAK2 (9p24.1)
 
Monarch Initiative: MONDO:0009891
OMIM®: 263300
Orphanet: ORPHA729

Definition

Polycythemia vera (PV), the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, 133100), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; 133170) (Prchal, 2005). [from OMIM]

Additional description

From MedlinePlus Genetics
Polycythemia vera is a condition characterized 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).  https://medlineplus.gov/genetics/condition/polycythemia-vera

Clinical features

From HPO
Budd-Chiari syndrome
MedGen UID:
163632
Concept ID:
C0856761
Disease or Syndrome
Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.
Cerebral ischemia
MedGen UID:
182975
Concept ID:
C0917798
Pathologic Function
Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.
Cerebral hemorrhage
MedGen UID:
423648
Concept ID:
C2937358
Pathologic Function
Hemorrhage into the parenchyma of the brain.
Gastrointestinal hemorrhage
MedGen UID:
8971
Concept ID:
C0017181
Pathologic Function
Hemorrhage affecting the gastrointestinal tract.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Thromboembolism
MedGen UID:
21532
Concept ID:
C0040038
Pathologic Function
The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.
Increased hematocrit
MedGen UID:
68692
Concept ID:
C0239935
Finding
An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.
Increased circulating hemoglobin concentration
MedGen UID:
108199
Concept ID:
C0549448
Finding
Concentration of hemoglobin in the blood circulation above the upper limit of normal.
Thrombocytosis
MedGen UID:
163397
Concept ID:
C0836924
Disease or Syndrome
Increased numbers of platelets in the peripheral blood.
Increased red blood cell mass
MedGen UID:
377869
Concept ID:
C1853288
Finding
The presence of an increased mass of red blood cells in the circulation.
Increased megakaryocyte count
MedGen UID:
870733
Concept ID:
C4025187
Finding
Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.
Abnormal thrombosis
MedGen UID:
871247
Concept ID:
C4025731
Anatomical Abnormality
Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
Leukocytosis
MedGen UID:
9736
Concept ID:
C0023518
Disease or Syndrome
An abnormal increase in the number of leukocytes in the blood.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcquired polycythemia vera
Follow this link to review classifications for Acquired polycythemia vera in Orphanet.

Professional guidelines

PubMed

Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
Martin K
Curr Hematol Malig Rep 2017 Oct;12(5):389-396. doi: 10.1007/s11899-017-0400-3. PMID: 28948496
McMullin MF
Curr Hematol Malig Rep 2016 Oct;11(5):342-7. doi: 10.1007/s11899-016-0334-1. PMID: 27423232

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Myeloproliferative Neoplasms, 2023

Recent clinical studies

Etiology

Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
Gangat N, Szuber N, Pardanani A, Tefferi A
Leukemia 2021 Aug;35(8):2166-2181. Epub 2021 May 21 doi: 10.1038/s41375-021-01290-6. PMID: 34021251Free PMC Article
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, Schönegger A, Bock C, Malcovati L, Pascutto C, Superti-Furga G, Cazzola M, Kralovics R
N Engl J Med 2013 Dec 19;369(25):2379-90. Epub 2013 Dec 10 doi: 10.1056/NEJMoa1311347. PMID: 24325356
Landolfi R, Nicolazzi MA, Porfidia A, Di Gennaro L
Intern Emerg Med 2010 Oct;5(5):375-84. Epub 2010 Mar 16 doi: 10.1007/s11739-010-0369-6. PMID: 20237866
Bench AJ, Cross NC, Huntly BJ, Nacheva EP, Green AR
Best Pract Res Clin Haematol 2001 Sep;14(3):531-51. doi: 10.1053/beha.2001.0153. PMID: 11640868

Diagnosis

Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
Luque Paz D, Kralovics R, Skoda RC
Blood 2023 Apr 20;141(16):1909-1921. doi: 10.1182/blood.2022017578. PMID: 36347013Free PMC Article
Gangat N, Szuber N, Pardanani A, Tefferi A
Leukemia 2021 Aug;35(8):2166-2181. Epub 2021 May 21 doi: 10.1038/s41375-021-01290-6. PMID: 34021251Free PMC Article
Landolfi R, Nicolazzi MA, Porfidia A, Di Gennaro L
Intern Emerg Med 2010 Oct;5(5):375-84. Epub 2010 Mar 16 doi: 10.1007/s11739-010-0369-6. PMID: 20237866
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; Cancer Genome Project
Lancet 2005 Mar 19-25;365(9464):1054-61. doi: 10.1016/S0140-6736(05)71142-9. PMID: 15781101

Therapy

Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
McMullin MF
Curr Hematol Malig Rep 2016 Oct;11(5):342-7. doi: 10.1007/s11899-016-0334-1. PMID: 27423232
Tefferi A, Barbui T
Am J Hematol 2015 Feb;90(2):162-73. doi: 10.1002/ajh.23895. PMID: 25611051
Landolfi R, Nicolazzi MA, Porfidia A, Di Gennaro L
Intern Emerg Med 2010 Oct;5(5):375-84. Epub 2010 Mar 16 doi: 10.1007/s11739-010-0369-6. PMID: 20237866
Brière JB
Orphanet J Rare Dis 2007 Jan 8;2:3. doi: 10.1186/1750-1172-2-3. PMID: 17210076Free PMC Article

Prognosis

Luque Paz D, Kralovics R, Skoda RC
Blood 2023 Apr 20;141(16):1909-1921. doi: 10.1182/blood.2022017578. PMID: 36347013Free PMC Article
Gangat N, Szuber N, Pardanani A, Tefferi A
Leukemia 2021 Aug;35(8):2166-2181. Epub 2021 May 21 doi: 10.1038/s41375-021-01290-6. PMID: 34021251Free PMC Article
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, Schönegger A, Bock C, Malcovati L, Pascutto C, Superti-Furga G, Cazzola M, Kralovics R
N Engl J Med 2013 Dec 19;369(25):2379-90. Epub 2013 Dec 10 doi: 10.1056/NEJMoa1311347. PMID: 24325356
Landolfi R, Nicolazzi MA, Porfidia A, Di Gennaro L
Intern Emerg Med 2010 Oct;5(5):375-84. Epub 2010 Mar 16 doi: 10.1007/s11739-010-0369-6. PMID: 20237866
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; Cancer Genome Project
Lancet 2005 Mar 19-25;365(9464):1054-61. doi: 10.1016/S0140-6736(05)71142-9. PMID: 15781101

Clinical prediction guides

Noumani I, Harrison CN, McMullin MF
Int J Lab Hematol 2024 May;46 Suppl 1:55-62. Epub 2024 May 2 doi: 10.1111/ijlh.14298. PMID: 38695361
Luque Paz D, Kralovics R, Skoda RC
Blood 2023 Apr 20;141(16):1909-1921. doi: 10.1182/blood.2022017578. PMID: 36347013Free PMC Article
Moncada A, Pancrazzi A
Int Rev Cell Mol Biol 2022;366:187-220. Epub 2021 Apr 5 doi: 10.1016/bs.ircmb.2021.02.010. PMID: 35153004
McMullin MF
Curr Hematol Malig Rep 2016 Oct;11(5):342-7. doi: 10.1007/s11899-016-0334-1. PMID: 27423232
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; Cancer Genome Project
Lancet 2005 Mar 19-25;365(9464):1054-61. doi: 10.1016/S0140-6736(05)71142-9. PMID: 15781101

Recent systematic reviews

Supplemental Content

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    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Myeloproliferative Neoplasms, 2023

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