AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesInformation Science
Polycythemia VeraPolycythemiaEye ManifestationsBloodlettingThrombocythemia, EssentialJanus Kinase 2Primary MyelofibrosisMyeloproliferative DisordersAloeHematocritExchange Transfusion, Whole BloodPipobromanThrombocytosisErythroid Precursor CellsLymphoceleHemoglobinometryBlood ViscosityErythropoietinPhlebotomyReceptors, ThrombopoietinPlasma VolumeCarboxyhemoglobinDiphosphoglyceric AcidsErythropoiesisEncyclopedias as TopicErythrocytes
V617FMyelofibrosisPrimary polycythemiaSpurious polycythemiaRelative polycythemiaMutationsMutationMyeloproliferative neoplasm characterizedThrombosisInhibitorPhlebotomyFamilialDifferentiationSerumJanusInhibitorsLeukemicAsymptomaticBoneFindingsSecondaryInhibitionSplenomegalyPatientsSpleenHypoxiaDiseasesSignificantEssentialPruritusTreatmentNight sweatsLaboratoryClinical symptomsCasesIndividuals
V617F6
  • The purpose of the screening was to offer testing of blood specimens from residents of the tri-county area for the JAK2(V617F) genetic mutation. (cdc.gov)
  • In 2005, researchers discovered a mutation in the Janus Tyrosine Kinase 2 gene (JAK2 (V617F)), which plays a pivotal role in the regulation of blood cell production (Levine et al. (cdc.gov)
  • 48% in a woman), a bone marrow biopsy showing hypercellularity for age, and the presence of a JAK2 V617F or JAK2 exon 12 mutation. (targetedonc.com)
  • JAK-STAT signaling through the JAK2 V617F mutation is central to the pathogenesis of myeloproliferative neoplasms (MPN). (biomedcentral.com)
  • JAK2 V617F mutation point was present . (symptoma.com)
  • The discovery of an activating point mutation in the Janus kinase 2 gene ( JAK2 V617F) in a significant portion of patients with MPNs led to improved understanding of the pathobiology of these disorders and prompted rapid development of JAK inhibitors. (cancernetwork.com)
Myelofibrosis3
  • One group of those are the myeloproliferative neoplasms, which includes essential thrombocythemia, a disease named for having too many platelets, polycythemia vera, a disease named for having too many red blood cells, and myelofibrosis. (curetoday.com)
  • This condition increases the risk for circulatory disorders such as thrombosis and embolism, its symptoms lead to a reduced quality of life and on the long run may progress to myelofibrosis or transform to leukemia. (aop-health.com)
  • The World Health Organization (WHO) classifies polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) as Ph-negative MPNs. (cancernetwork.com)
Primary polycythemia4
  • Absolute polycythemia can be due to genetic mutations in the bone marrow ("primary polycythemia"), physiologic adaptations to one's environment, medications, and/or other health conditions. (wikipedia.org)
  • Treatment of primary polycythemia (see polycythemia vera) could involve phlebotomy, antiplatelet therapy to reduce risk of blood clots, and additional cytoreductive therapy to reduce the number of red blood cells produced in the bone marrow. (wikipedia.org)
  • Absolute polycythemia can be split into two categories: Primary polycythemia is the overproduction of red blood cells due to a primary process in the bone marrow (a so-called myeloproliferative disease). (wikipedia.org)
  • polycythemia vera see primary polycythemia (above). (symptoma.com)
Spurious polycythemia1
Relative polycythemia5
  • Relative polycythemia is not a true increase in the number of red blood cells or hemoglobin in the blood, but rather an elevated laboratory finding caused by reduced blood plasma (hypovolemia, cf. dehydration). (wikipedia.org)
  • Relative polycythemia is often caused by loss of body fluids, such as through burns, dehydration, and stress. (wikipedia.org)
  • citation needed] A specific type of relative polycythemia is Gaisböck syndrome. (wikipedia.org)
  • If relative polycythemia is deemed unlikely because the patient has no other signs of hemoconcentration, and has sustained polycythemia without clear loss of body fluids, the patient likely has absolute or true polycythemia. (wikipedia.org)
  • relative polycythemia apparent polycythemia resulting from loss of plasma and the hemoconcentration that follows. (symptoma.com)
Mutations7
  • In general these mutations produce an increase in signaling pathways downstream of JAK2. (biomedcentral.com)
  • Polycythemia vera is presumed to have a genetic basis due to mutations in the Janus kinase-2 gene. (lecturio.com)
  • In polycythemia vera, it's primarily mutations in JAK2, so there are too many red blood cells, and sometimes too many platelets. (curetoday.com)
  • JAK2 and MPL mutations primarily activate JAK/STAT, PI3K/AKT and MAPK/ERK signaling pathways. (biomedcentral.com)
  • Besides JAK/STAT pathway, activation of PI3K/AKT is another obvious consequence of JAK2 and MPL mutations. (biomedcentral.com)
  • However, its role in typical MPNs with JAK2 or MPL mutations had not been addressed. (biomedcentral.com)
  • While the molecular mechanism underlying PV is still subject of intense research, current results point to blood-building stem cells in the bone marrow with a set of acquired mutations, the most important being a mutant form of JAK2 that make up the malignant clone. (aop-health.com)
Mutation8
  • ATSDR, in cooperation with the Pennsylvania Department of Health, collected blood samples from 1,170 self-selected residents, and tested them for the JAK2 mutation. (cdc.gov)
  • About 1.2 % of participants in this screening, who had not been previously diagnosed with MPN or had symptoms of MPN, tested positive for the JAK2 genetic mutation. (cdc.gov)
  • Available data are not adequate to conclude whether this represents an increased prevalence of the JAK2 mutation in the population tested. (cdc.gov)
  • A person with a positive JAK2 mutation is at increased risk of developing PV, but it is not known if everyone with this mutation eventually develops PV. (cdc.gov)
  • the JAK2 mutation, the presence of the mutation has become an important diagnostic criterion for identifying patients with PV and for reducing the potential for misdiagnosis of persons with elevated red blood cell counts. (cdc.gov)
  • Virtually all patients with PV harbor a mutation in the nonreceptor tyrosine kinase JAK2, with the majority of patients harboring the classic JAK2. (targetedonc.com)
  • 1 The sole minor criterion is a subnormal serum erythropoietin level, which is useful to establish the diagnosis in the absence of a detected mutation in JAK2. (targetedonc.com)
  • However, other events could precede the JAK2 mutation. (biomedcentral.com)
Myeloproliferative neoplasm characterized3
  • Polycythemia vera is a myeloproliferative neoplasm characterized by increased production of red blood cells and often other blood cell lines. (cdc.gov)
  • Polycythemia vera is a myeloproliferative neoplasm characterized by clonal hematopoiesis and an absolute increase in the red blood cell mass, with an associated leukocytosis and thrombocytosis. (targetedonc.com)
  • Polycythemia vera (PV) is a chronic myeloproliferative neoplasm characterized by the overproduction of RBCs. (lecturio.com)
Thrombosis1
  • The clinical course of individuals with MF is characterized by constitutional symptoms (fevers, night sweats, and weight loss), bone marrow myeloproliferation and reticulin/collagen fibrosis, worsening cytopenias, thrombosis, and progressive symptomatic splenomegaly. (cancernetwork.com)
Inhibitor2
  • Bone marrow pathologic response and/or molecular response with JAK2 inhibitor therapy is not anticipated and, therefore, the evaluation of other rationally based treatments is under active evaluation with an aim for disease course modification. (targetedonc.com)
  • Besides developing new types of JAK2 inhibitor, other downstream signaling pathways activated by these mutants were also proposed to be potential targets for MPNs therapy. (biomedcentral.com)
Phlebotomy2
  • Therapeutic phlebotomy may be indicated for hemochromatosis, polycythemia vera, porphyria cutanea tarda, and polycythemia secondary to arterio-venous fistulae, cyanotic congenital heart disease or cor pulmonale. (aetna.com)
  • According to guidelines from the Hemochromatosis Management Working Group (Barton et al, 1998), therapeutic phlebotomy should be initiated in men with serum ferritin levels of 300 ug/L or more and in women with serum ferritin levels of 200 ug/L or more, regardless of the presence or absence of symptoms. (aetna.com)
Familial1
  • Summary of Results: Familial PV refers to rare form of polycythemia in which other family members have the same phenotypic and/or genotypic presentations . (symptoma.com)
Differentiation1
Serum1
  • Laboratory studies such as serum erythropoeitin levels and genetic testing might be helpful to clarify the cause of polycythemia if the physical exam and patient history don't reveal a likely cause. (wikipedia.org)
Janus1
  • We believe what occurs is that in the bone marrow, one of the key genes that is kind of like the operating system on a computer, called JAK2 (Janus kinase 2), is broken, or is mutated. (curetoday.com)
Inhibitors3
  • Trials evaluating the efficacy of other JAK2 inhibitors for PV, such as fedratinib and momelotinib, are also being conducted. (targetedonc.com)
  • More recently, an appreciation of symptom burden associated with PV driven by heightened inflammatory cytokines (fatigue, pruritus), microvascular disturbances (headaches, decreased concentration), and splenomegaly (early satiety, abdominal discomfort) has brought attention to therapies such as JAK2 inhibitors that effectively ameliorate these. (targetedonc.com)
  • JAK2 inhibitors are emerging as promising new treatments in this disease. (biomedcentral.com)
Leukemic1
  • The long-term risks of polycythemia vera (PV) include leukemic and fibrotic transformation, which occur in fewer than 5% and 10% of patients, respectively, at 10 years. (medscape.com)
Asymptomatic1
Bone4
  • Polycythemia vera (PV) is a rare blood disease in which the bone marrow makes too many red blood cells. (cdc.gov)
  • Polycythemia Vera (PV) is a rare cancer of the blood-building stem cells in the bone marrow resulting in a chronic increase of red blood cells, white blood cells and platelets. (aop-health.com)
  • Bone marrow fibrosis is also detected in the spent phase of chronic myelogenous leukemia and polycythemia vera. (medscape.com)
  • The clinical course of individuals with MF is heterogeneous and characterized by constitutional symptoms, bone marrow myeloproliferation and fibrosis, progressive cytopenias, and symptomatic splenomegaly. (cancernetwork.com)
Findings3
  • Polycythemia is sometimes called erythrocytosis, and there is significant overlap in the two findings, but the terms are not the same: polycythemia describes any increase in hematocrit and/or hemoglobin, while erythrocytosis describes an increase specifically in the number of red blood cells in the blood. (wikipedia.org)
  • Typical findings for polycythemia: In many children the only manifestation will be plethora . (symptoma.com)
  • The optimal management remains elusive despite the findings of the Polycythemia Vera Study Group (PVSG). (medscape.com)
Secondary2
Inhibition1
  • JAK2 inhibition for PV remains a viable option for a subset of patients that fail hydroxyurea and are particularly in need of symptomatic control. (targetedonc.com)
Splenomegaly1
  • While not a curative option, ruxolitinib offers great palliative potential and results in significant reduction in splenomegaly and improvement in constitutional symptoms in the majority of treated patients, thus improving their quality of life and performance status. (cancernetwork.com)
Patients3
  • In essential thrombocythemia, or ET, patients have too many platelets, and sometimes they have too many white blood cells, and they might have one of those changes in the genes in JAK2 or in CALR. (curetoday.com)
  • AOP Orphan Pharmaceuticals GmbH (AOP Health) announced the publication of final results on the recently developed interferon therapy, ropeginterferon alfa-2b, in patients with polycythemia vera (PV) in the prestigious journal Leukemia 1 . (aop-health.com)
  • Event-free survival in patients with polycythemia vera treated with ropeginterferon alfa-2b versus best available treatment. (aop-health.com)
Spleen2
  • Additionally, spleen volume and symptom burden were significantly reduced with ruxolitinib treatment. (targetedonc.com)
  • It's a disease that can cause more significant symptoms, including weight loss, fatigue and symptoms from the spleen. (curetoday.com)
Hypoxia1
  • Causes of neonatal polycythemia include: Hypoxia: Poor oxygen delivery (hypoxia) in utero resulting in compensatory increased production of red blood cells (erythropoeisis). (wikipedia.org)
Diseases1
Significant2
  • 65%. Significant polycythemia can be associated with blood hyperviscosity, or thickening of the blood. (wikipedia.org)
  • In 2005, the Pennsylvania Department of Health (PA DOH) released a report in which they identified a statistically significant higher incidence of polycythemia vera (PV) in Luzerne and Schuylkill Counties as compared to the rest of the state. (cdc.gov)
Essential1
  • The aim of this study is to analyze the phenotypic divergence between polycytemia vera (PV) and essential thrombocytemia (ET) to find novel therapeutics targets by a proteomic and functional approach to identify alternative routes to JAK2 activation. (biomedcentral.com)
Pruritus1
  • Other symptoms may include headache, pruritus, dizziness and sweating. (symptoma.com)
Treatment1
Night sweats1
  • In ET and PV (polycythemia vera), there can be risk of blood clots or bleeding, and definitely symptoms from high blood counts, such as fatigue, night sweats and others. (curetoday.com)
Laboratory2
  • Polycythemia (also known as polycythaemia) is a laboratory finding in which the hematocrit (the volume percentage of red blood cells in the blood) and/or hemoglobin concentration are increased in the blood. (wikipedia.org)
  • In the past, PV was diagnosed by clinical symptoms and traditional laboratory hematological tests. (cdc.gov)
Clinical symptoms1
  • Clinical description The hematological disorder is present at birth but the clinical symptoms, if they develop, can be discovered at any time during childhood or adulthood. (symptoma.com)
Cases1
  • In 2009, ATSDR identified a cluster of polycythemia vera cases near the nexus of Luzerne, Schuylkill, and Carbon Counties and a second cluster in Schuylkill County, Pennsylvania. (cdc.gov)
Individuals1
  • JAK2 positive individuals should have periodic evaluations to monitor for possible disease onset or progression. (cdc.gov)