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<!--
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UID=18552
|
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ConceptID=C0032461
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Polycythemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18552</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0032461</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Polycythaemia; Polycythemia (disease)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Erythrocythemia (109992005); Polycythemia (127062003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001901">HP:0001901</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0005571" target="_blank">MONDO:0005571</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98427">ORPHA98427</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Polycythemia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/488883" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte morphology">Abnormal erythrocyte morphology</a></span><ul><li><span class="matched_ds">Polycythemia</span><ul><li><span class="TLline"><a href="/medgen/45996" ref="tree=MeSH" title="MedGen record for Acquired polycythemia vera">Acquired polycythemia vera</a></span><ul><li><span class="TLline"><a href="/medgen/271322" ref="tree=MeSH" title="MedGen record for Polycythemia Vera, Polycythemic Phase">Polycythemia Vera, Polycythemic Phase</a></span></li><li><span class="TLline"><a href="/medgen/1641083" ref="tree=MeSH" title="MedGen record for Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase">Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/377869" ref="tree=MeSH" title="MedGen record for Increased red blood cell mass">Increased red blood cell mass</a></span></li><li><span class="TLline"><a href="/medgen/1812993" ref="tree=MeSH" title="MedGen record for Multiple paragangliomas associated with polycythemia">Multiple paragangliomas associated with polycythemia</a></span></li><li><span class="TLline"><a href="/medgen/163107" ref="tree=MeSH" title="MedGen record for Polycythemia (Excluding Polycythemia Vera)">Polycythemia (Excluding Polycythemia Vera)</a></span><ul><li><span class="TLline"><a href="/medgen/57520" ref="tree=MeSH" title="MedGen record for Familial erythrocytosis">Familial erythrocytosis</a></span><ul><li><span class="TLline"><a href="/medgen/332974" ref="tree=MeSH" title="MedGen record for Chuvash polycythemia">Chuvash polycythemia</a></span></li><li><span class="TLline"><a href="/medgen/377868" ref="tree=MeSH" title="MedGen record for Erythrocytosis, familial, 3">Erythrocytosis, familial, 3</a></span></li><li><span class="TLline"><a href="/medgen/435867" ref="tree=MeSH" title="MedGen record for Erythrocytosis, familial, 4">Erythrocytosis, familial, 4</a></span></li><li><span class="TLline"><a href="/medgen/1641215" ref="tree=MeSH" title="MedGen record for Primary familial polycythemia due to EPO receptor mutation">Primary familial polycythemia due to EPO receptor mutation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78794" ref="tree=MeSH" title="MedGen record for Neonatal polycythemia">Neonatal polycythemia</a></span></li><li><span class="TLline"><a href="/medgen/163545" ref="tree=MeSH" title="MedGen record for Physiological polycythemia">Physiological polycythemia</a></span></li><li><span class="TLline"><a href="/medgen/231144" ref="tree=MeSH" title="MedGen record for Secondary polycythemia">Secondary polycythemia</a></span><ul><li><span class="TLline"><a href="/medgen/163544" ref="tree=MeSH" title="MedGen record for Dehydration polycythemia">Dehydration polycythemia</a></span></li><li><span class="TLline"><a href="/medgen/98214" ref="tree=MeSH" title="MedGen record for Erythropoietin polycythemia">Erythropoietin polycythemia</a></span></li><li><span class="TLline"><a href="/medgen/163546" ref="tree=MeSH" title="MedGen record for Polycythemia due to hypoxia">Polycythemia due to hypoxia</a></span></li><li><span class="TLline"><a href="/medgen/107439" ref="tree=MeSH" title="MedGen record for Stress polycythemia">Stress polycythemia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=13444&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Polycythemia</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_42458"><div><strong>Von Hippel-Lindau syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42458</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Von Hippel-Lindau syndrome (VHL) is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma and paraganglioma; pancreatic cysts and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cystadenomas. Retinal hemangioblastomas may be the initial manifestation of VHL and can cause vision loss. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42458">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75661"><div><strong>Deficiency of cytochrome-b5 reductase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75661</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency is an autosomal recessive disorder characterized clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis and hypoxia (review by Percy and Lappin, 2008). There are 2 types of methemoglobin reductase deficiency. In type I, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type II, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes, and all body tissues. Type II methemoglobinemia is associated with mental deficiency and other neurologic symptoms. The neurologic symptoms may be related to the major role played by the cytochrome b5 system in the desaturation of fatty acids (Vives-Corrons et al., 1978; Kaplan et al., 1979).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75661">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_87458"><div><strong>Fumarase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87458</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342770</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Dysmorphic facial features include frontal bossing, depressed nasal bridge, and widely spaced eyes. Many affected individuals are microcephalic. A spectrum of brain abnormalities are seen on magnetic resonance imaging, including cerebral atrophy, enlarged ventricles and generous extra-axial cerebral spinal fluid (CSF) spaces, delayed myelination for age, thinning of the corpus callosum, and an abnormally small brain stem. Brain malformations including bilateral polymicrogyria and absence of the corpus callosum can also be observed. Development is severely affected: most affected individuals are nonverbal and nonambulatory, and many die during early childhood. Less severely affected individuals with moderate cognitive impairment and long-term survival have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87458">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_489898"><div><strong>Deficiency of bisphosphoglycerate mutase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>489898</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1291620</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/489898">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333014"><div><strong>ABCD syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333014</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1838099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ABCD syndrome (ABCDS) is an autosomal recessive disorder characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease), and deafness (summary by Verheij et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333014">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324960"><div><strong>Telangiectasia, hereditary hemorrhagic, type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324960</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1838163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324960">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350114"><div><strong>Pyruvate kinase hyperactivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350114</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1863224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Elevation of red cell ATP levels is accompanied by elevated red cell pyruvate kinase activity and mild erythrocytosis. Red cell life span is slightly shortened. The patients in whom this trait was first described were asymptomatic (summary by Beutler et al., 1997).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350114">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_435867"><div><strong>Erythrocytosis, familial, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435867</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2673187</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial erythrocytosis-4 (ECYT4) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration as well as elevated serum erythropoietin (EPO; 133170). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/435867">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_412958"><div><strong>Hypermanganesemia with dystonia, polycythemia, and cirrhosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412958</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2750442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypermanganesemia with dystonia 1 (HMNDYT1) is characterized by the following: A movement disorder resulting from manganese accumulation in the basal ganglia. Whole-blood manganese concentrations that often exceed 2000 nmol/L (normal: <320 nmol/L). Polycythemia. Hepatomegaly with variable hepatic fibrosis/cirrhosis. Neurologic findings can manifest in childhood (ages 2-15 years) as four-limb dystonia, leading to a characteristic high-stepping gait ("cock-walk gait"), dysarthria, fine tremor, and bradykinesia or on occasion spastic paraplegia; or in adulthood as parkinsonism (shuffling gait, rigidity, bradykinesia, hypomimia, and monotone speech) unresponsive to L-dopa treatment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412958">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_477078"><div><strong>Ogden syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477078</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3275447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477078">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1643786"><div><strong>Telangiectasia, hereditary hemorrhagic, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643786</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551861</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643786">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1638941"><div><strong>Erythrocytosis, familial, 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1638941</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4693552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Erythrocytosis-5 (ECYT5) is an autosomal dominant disorder characterized by increased red cell mass and typically elevated hemoglobin concentration and hematocrit. Some patients have increased serum EPO levels (summary by Zmajkovic et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1638941">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1634191"><div><strong>Erythrocytosis, familial, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634191</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4693822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial erythrocytosis-6 is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant (see 617981) is usually milder than that caused by a beta chain variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634191">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1642594"><div><strong>Erythrocytosis, familial, 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642594</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4693823</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial erythrocytosis-7 (ECYT7) is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant is usually milder than that caused by a beta chain variant (see 617980).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642594">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333014" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ABCD syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_489898" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of bisphosphoglycerate mutase</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of cytochrome-b5 reductase</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_435867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythrocytosis, familial, 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1638941" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythrocytosis, familial, 5</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634191" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythrocytosis, familial, 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1642594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythrocytosis, familial, 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fumarase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412958" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypermanganesemia with dystonia, polycythemia, and cirrhosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ogden syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyruvate kinase hyperactivity</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1643786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telangiectasia, hereditary hemorrhagic, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324960" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telangiectasia, hereditary hemorrhagic, type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Von Hippel-Lindau syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38269572">Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tefferi A,
|
||
Vannucchi AM,
|
||
Barbui T</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2024 Apr;99(4):697-718.
|
||
Epub 2024 Jan 25
|
||
doi: 10.1002/ajh.27216.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38269572" target="_blank">38269572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37357958">Polycythemia vera: 2024 update on diagnosis, risk-stratification, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tefferi A,
|
||
Barbui T</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2023 Sep;98(9):1465-1487.
|
||
Epub 2023 Jun 26
|
||
doi: 10.1002/ajh.27002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37357958" target="_blank">37357958</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36680511">Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2023 May;98(5):801-821.
|
||
Epub 2023 Feb 6
|
||
doi: 10.1002/ajh.26857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36680511" target="_blank">36680511</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22polycythemia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (587)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36966432">JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gangat N,
|
||
Szuber N,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2023 Jun;98(6):965-981.
|
||
Epub 2023 Apr 3
|
||
doi: 10.1002/ajh.26920.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36966432" target="_blank">36966432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34480106">Polycythemia vera: historical oversights, diagnostic details, and therapeutic views.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tefferi A,
|
||
Vannucchi AM,
|
||
Barbui T</span><br />
|
||
<span class="medgenPMjournal">Leukemia</span>
|
||
2021 Dec;35(12):3339-3351.
|
||
Epub 2021 Sep 3
|
||
doi: 10.1038/s41375-021-01401-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34480106" target="_blank">34480106</a><a href="/pmc/articles/PMC8632660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34060791">Polycythemia Vera: Rapid Evidence Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fox S,
|
||
Griffin L,
|
||
Robinson Harris D</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2021 Jun 1;103(11):680-687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34060791" target="_blank">34060791</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31451170">Complex multigestational anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marwan AI,
|
||
Zaretsky M,
|
||
Feltis B</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2019 Aug;28(4):150825.
|
||
Epub 2019 Jul 18
|
||
doi: 10.1053/j.sempedsurg.2019.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31451170" target="_blank">31451170</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27866579">Polycythemia and Thrombocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parnes A,
|
||
Ravi A</span><br />
|
||
<span class="medgenPMjournal">Prim Care</span>
|
||
2016 Dec;43(4):589-605.
|
||
doi: 10.1016/j.pop.2016.07.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27866579" target="_blank">27866579</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycythemia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3180)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38695361">Erythrocytosis: Diagnosis and investigation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noumani I,
|
||
Harrison CN,
|
||
McMullin MF</span><br />
|
||
<span class="medgenPMjournal">Int J Lab Hematol</span>
|
||
2024 May;46 Suppl 1:55-62.
|
||
Epub 2024 May 2
|
||
doi: 10.1111/ijlh.14298.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38695361" target="_blank">38695361</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36989234">Lenvatinib-Associated Erythrocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lakra R,
|
||
Grewal US,
|
||
Beedupalli K</span><br />
|
||
<span class="medgenPMjournal">Am J Ther</span>
|
||
2024 Mar-Apr 01;31(2):e201-e203.
|
||
Epub 2023 Mar 7
|
||
doi: 10.1097/MJT.0000000000001606.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36989234" target="_blank">36989234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36927204">Secondary erythrocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Babakhanlou R,
|
||
Verstovsek S,
|
||
Pemmaraju N,
|
||
Rojas-Hernandez CM</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Hematol</span>
|
||
2023 Apr;16(4):245-251.
|
||
Epub 2023 Mar 23
|
||
doi: 10.1080/17474086.2023.2192475.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36927204" target="_blank">36927204</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34480106">Polycythemia vera: historical oversights, diagnostic details, and therapeutic views.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tefferi A,
|
||
Vannucchi AM,
|
||
Barbui T</span><br />
|
||
<span class="medgenPMjournal">Leukemia</span>
|
||
2021 Dec;35(12):3339-3351.
|
||
Epub 2021 Sep 3
|
||
doi: 10.1038/s41375-021-01401-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34480106" target="_blank">34480106</a><a href="/pmc/articles/PMC8632660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27866579">Polycythemia and Thrombocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parnes A,
|
||
Ravi A</span><br />
|
||
<span class="medgenPMjournal">Prim Care</span>
|
||
2016 Dec;43(4):589-605.
|
||
doi: 10.1016/j.pop.2016.07.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27866579" target="_blank">27866579</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycythemia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3514)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37126762">Ruxolitinib Versus Best Available Therapy for Polycythemia Vera Intolerant or Resistant to Hydroxycarbamide in a Randomized Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harrison CN,
|
||
Nangalia J,
|
||
Boucher R,
|
||
Jackson A,
|
||
Yap C,
|
||
O'Sullivan J,
|
||
Fox S,
|
||
Ailts I,
|
||
Dueck AC,
|
||
Geyer HL,
|
||
Mesa RA,
|
||
Dunn WG,
|
||
Nadezhdin E,
|
||
Curto-Garcia N,
|
||
Green A,
|
||
Wilkins B,
|
||
Coppell J,
|
||
Laurie J,
|
||
Garg M,
|
||
Ewing J,
|
||
Knapper S,
|
||
Crowe J,
|
||
Chen F,
|
||
Koutsavlis I,
|
||
Godfrey A,
|
||
Arami S,
|
||
Drummond M,
|
||
Byrne J,
|
||
Clark F,
|
||
Mead-Harvey C,
|
||
Baxter EJ,
|
||
McMullin MF,
|
||
Mead AJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2023 Jul 1;41(19):3534-3544.
|
||
Epub 2023 May 1
|
||
doi: 10.1200/JCO.22.01935.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37126762" target="_blank">37126762</a><a href="/pmc/articles/PMC10306428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36680511">Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2023 May;98(5):801-821.
|
||
Epub 2023 Feb 6
|
||
doi: 10.1002/ajh.26857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36680511" target="_blank">36680511</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32014125">Ropeginterferon alfa-2b versus standard therapy for polycythaemia vera (PROUD-PV and CONTINUATION-PV): a randomised, non-inferiority, phase 3 trial and its extension study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gisslinger H,
|
||
Klade C,
|
||
Georgiev P,
|
||
Krochmalczyk D,
|
||
Gercheva-Kyuchukova L,
|
||
Egyed M,
|
||
Rossiev V,
|
||
Dulicek P,
|
||
Illes A,
|
||
Pylypenko H,
|
||
Sivcheva L,
|
||
Mayer J,
|
||
Yablokova V,
|
||
Krejcy K,
|
||
Grohmann-Izay B,
|
||
Hasselbalch HC,
|
||
Kralovics R,
|
||
Kiladjian JJ;
|
||
PROUD-PV Study Group</span><br />
|
||
<span class="medgenPMjournal">Lancet Haematol</span>
|
||
2020 Mar;7(3):e196-e208.
|
||
Epub 2020 Jan 31
|
||
doi: 10.1016/S2352-3026(19)30236-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32014125" target="_blank">32014125</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31571162">Fedratinib: First Approval.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blair HA</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2019 Oct;79(15):1719-1725.
|
||
doi: 10.1007/s40265-019-01205-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31571162" target="_blank">31571162</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2242790">Water-induced itching.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bircher AJ</span><br />
|
||
<span class="medgenPMjournal">Dermatologica</span>
|
||
1990;181(2):83-7.
|
||
doi: 10.1159/000247891.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2242790" target="_blank">2242790</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycythemia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2467)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33197049">Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2021 Jan;96(1):145-162.
|
||
Epub 2020 Dec 2
|
||
doi: 10.1002/ajh.26050.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33197049" target="_blank">33197049</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29097178">Delayed vs early umbilical cord clamping for preterm infants: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fogarty M,
|
||
Osborn DA,
|
||
Askie L,
|
||
Seidler AL,
|
||
Hunter K,
|
||
Lui K,
|
||
Simes J,
|
||
Tarnow-Mordi W</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2018 Jan;218(1):1-18.
|
||
Epub 2017 Oct 30
|
||
doi: 10.1016/j.ajog.2017.10.231.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29097178" target="_blank">29097178</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29032412">Prognostication and Initiation of Therapy in Polycythemia Vera: Do We Have it Right?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stein BL,
|
||
Verstovsek S</span><br />
|
||
<span class="medgenPMjournal">Curr Hematol Malig Rep</span>
|
||
2017 Dec;12(6):507-509.
|
||
doi: 10.1007/s11899-017-0423-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29032412" target="_blank">29032412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24372927">Epidemiology of myelofibrosis, essential thrombocythemia, and polycythemia vera in the European Union.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moulard O,
|
||
Mehta J,
|
||
Fryzek J,
|
||
Olivares R,
|
||
Iqbal U,
|
||
Mesa RA</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2014 Apr;92(4):289-97.
|
||
Epub 2014 Feb 3
|
||
doi: 10.1111/ejh.12256.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24372927" target="_blank">24372927</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23009940">Clinical predictors of outcome in MPN.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Passamonti F,
|
||
Maffioli M,
|
||
Merli M,
|
||
Ferrario A,
|
||
Caramazza D</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
2012 Oct;26(5):1101-16.
|
||
Epub 2012 Aug 28
|
||
doi: 10.1016/j.hoc.2012.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23009940" target="_blank">23009940</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycythemia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1835)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38695361">Erythrocytosis: Diagnosis and investigation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noumani I,
|
||
Harrison CN,
|
||
McMullin MF</span><br />
|
||
<span class="medgenPMjournal">Int J Lab Hematol</span>
|
||
2024 May;46 Suppl 1:55-62.
|
||
Epub 2024 May 2
|
||
doi: 10.1111/ijlh.14298.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38695361" target="_blank">38695361</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36680511">Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2023 May;98(5):801-821.
|
||
Epub 2023 Feb 6
|
||
doi: 10.1002/ajh.26857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36680511" target="_blank">36680511</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33197049">Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2021 Jan;96(1):145-162.
|
||
Epub 2020 Dec 2
|
||
doi: 10.1002/ajh.26050.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33197049" target="_blank">33197049</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31945802">Mutation-enhanced international prognostic systems for essential thrombocythaemia and polycythaemia vera.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tefferi A,
|
||
Guglielmelli P,
|
||
Lasho TL,
|
||
Coltro G,
|
||
Finke CM,
|
||
Loscocco GG,
|
||
Sordi B,
|
||
Szuber N,
|
||
Rotunno G,
|
||
Pacilli A,
|
||
Hanson CA,
|
||
Ketterling RP,
|
||
Pardanani A,
|
||
Gangat N,
|
||
Vannucchi AM</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2020 Apr;189(2):291-302.
|
||
Epub 2020 Jan 16
|
||
doi: 10.1111/bjh.16380.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31945802" target="_blank">31945802</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26177325">Syndromes that Link the Endocrine System and Genitourinary Tract.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Özlük Y,
|
||
Kılıçaslan I</span><br />
|
||
<span class="medgenPMjournal">Turk Patoloji Derg</span>
|
||
2015;31 Suppl 1:155-71.
|
||
doi: 10.5146/tjpath.2015.01322.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26177325" target="_blank">26177325</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycythemia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1842)</a></div></div>
|
||
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|
||
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37000342">Pharmacokinetics and Pharmacodynamics of Ruxolitinib: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Appeldoorn TYJ,
|
||
Munnink THO,
|
||
Morsink LM,
|
||
Hooge MNL,
|
||
Touw DJ</span><br />
|
||
<span class="medgenPMjournal">Clin Pharmacokinet</span>
|
||
2023 Apr;62(4):559-571.
|
||
Epub 2023 Mar 31
|
||
doi: 10.1007/s40262-023-01225-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37000342" target="_blank">37000342</a><a href="/pmc/articles/PMC10064968" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33309270">Controversies in Testosterone Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Twitchell DK,
|
||
Pastuszak AW,
|
||
Khera M</span><br />
|
||
<span class="medgenPMjournal">Sex Med Rev</span>
|
||
2021 Jan;9(1):149-159.
|
||
Epub 2020 Dec 9
|
||
doi: 10.1016/j.sxmr.2020.09.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33309270" target="_blank">33309270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31985808">Ruxolitinib for the prevention of thrombosis in polycythemia vera: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Masciulli A,
|
||
Ferrari A,
|
||
Carobbio A,
|
||
Ghirardi A,
|
||
Barbui T</span><br />
|
||
<span class="medgenPMjournal">Blood Adv</span>
|
||
2020 Jan 28;4(2):380-386.
|
||
doi: 10.1182/bloodadvances.2019001158.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31985808" target="_blank">31985808</a><a href="/pmc/articles/PMC6988397" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29097178">Delayed vs early umbilical cord clamping for preterm infants: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fogarty M,
|
||
Osborn DA,
|
||
Askie L,
|
||
Seidler AL,
|
||
Hunter K,
|
||
Lui K,
|
||
Simes J,
|
||
Tarnow-Mordi W</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2018 Jan;218(1):1-18.
|
||
Epub 2017 Oct 30
|
||
doi: 10.1016/j.ajog.2017.10.231.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29097178" target="_blank">29097178</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28038774">Cerebral venous thrombosis at high altitude: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zavanone C,
|
||
Panebianco M,
|
||
Yger M,
|
||
Borden A,
|
||
Restivo D,
|
||
Angelini C,
|
||
Pavone A,
|
||
Grimod G,
|
||
Rosso C,
|
||
Dupont S</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2017 Apr;173(4):189-193.
|
||
Epub 2016 Dec 27
|
||
doi: 10.1016/j.neurol.2016.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28038774" target="_blank">28038774</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polycythemia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (68)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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