Polycythemia differential diagnosis: Difference between revisions
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| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
* Autonomous erythrocyte production | * Autonomous erythrocyte production | ||
| align="center" style="background:#F5F5F5;" |JAK2 mutation > 95% | | align="center" style="background:#F5F5F5;" |[[JAK2]] mutation (> 95%) | ||
| align="center" style="background:#F5F5F5;" | Mean age >60 years old | | align="center" style="background:#F5F5F5;" | Mean age >60 years old | ||
| align="center" style="background:#F5F5F5;" | + | | align="center" style="background:#F5F5F5;" | + | ||
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| align="center" style="background:#F5F5F5;" | ↑ | | align="center" style="background:#F5F5F5;" | ↑ | ||
| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
* Painful erythema | * Painful [[erythema]] | ||
| align="center" style="background:#F5F5F5;" | + | | align="center" style="background:#F5F5F5;" | + | ||
| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
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! align="center" style="background:#DCDCDC;" |Chuvash polycythemia<ref name="ZhouKnoche2016">{{cite journal|last1=Zhou|first1=Amy W.|last2=Knoche|first2=Eric M.|last3=Engle|first3=Elizabeth K.|last4=Ban-Hoefen|first4=Makiko|last5=Kaiwar|first5=Charu|last6=Oh|first6=Stephen T.|title=Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia|journal=New England Journal of Medicine|volume=375|issue=5|year=2016|pages=494–496|issn=0028-4793|doi=10.1056/NEJMc1600337}}</ref> | ! align="center" style="background:#DCDCDC;" |Chuvash polycythemia<ref name="ZhouKnoche2016">{{cite journal|last1=Zhou|first1=Amy W.|last2=Knoche|first2=Eric M.|last3=Engle|first3=Elizabeth K.|last4=Ban-Hoefen|first4=Makiko|last5=Kaiwar|first5=Charu|last6=Oh|first6=Stephen T.|title=Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia|journal=New England Journal of Medicine|volume=375|issue=5|year=2016|pages=494–496|issn=0028-4793|doi=10.1056/NEJMc1600337}}</ref> | ||
| align="center" style="background:#F5F5F5;" | Hypoxia-sensing disorder | | align="center" style="background:#F5F5F5;" | Hypoxia-sensing disorder | ||
| align="center" style="background:#F5F5F5;" | VHL mutation | | align="center" style="background:#F5F5F5;" | [[VHL gene|VHL]] mutation | ||
| align="center" style="background:#F5F5F5;" | Russia, Italy | | align="center" style="background:#F5F5F5;" | Russia, Italy | ||
<40 years old | <40 years old | ||
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| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
* [[Pruritis]] | * [[Pruritis]] | ||
* Dizziness | * [[Dizziness]] | ||
| align="center" style="background:#F5F5F5;" | Facial plethora | | align="center" style="background:#F5F5F5;" | Facial plethora | ||
| align="center" style="background:#F5F5F5;" | ↓ | | align="center" style="background:#F5F5F5;" | ↓ | ||
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| align="center" style="background:#F5F5F5;" | ↑ | | align="center" style="background:#F5F5F5;" | ↑ | ||
| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
* Painful erythema | * Painful [[erythema]] | ||
| align="center" style="background:#F5F5F5;" | + | | align="center" style="background:#F5F5F5;" | + | ||
| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
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| align="center" style="background:#F5F5F5;" | Molecular genetic testing | | align="center" style="background:#F5F5F5;" | Molecular genetic testing | ||
| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
* Multiple thrombotic events | * Multiple [[thrombotic events]] | ||
|- | |- | ||
! align="center" style="background:#DCDCDC;" |Hereditary [[methemoglobinemia]]<ref name="pmid12897322">{{cite journal |vauthors=Da-Silva SS, Sajan IS, Underwood JP |title=Congenital methemoglobinemia: a rare cause of cyanosis in the newborn--a case report |journal=Pediatrics |volume=112 |issue=2 |pages=e158–61 |date=August 2003 |pmid=12897322 |doi= |url=}}</ref> | ! align="center" style="background:#DCDCDC;" |Hereditary [[methemoglobinemia]]<ref name="pmid12897322">{{cite journal |vauthors=Da-Silva SS, Sajan IS, Underwood JP |title=Congenital methemoglobinemia: a rare cause of cyanosis in the newborn--a case report |journal=Pediatrics |volume=112 |issue=2 |pages=e158–61 |date=August 2003 |pmid=12897322 |doi= |url=}}</ref> | ||
| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
* Cytochrome b5 reductase deficiency | * [[Cytochrome b5 reductase]] deficiency | ||
* Hemoglobin M disease | * Hemoglobin M disease | ||
| align="center" style="background:#F5F5F5;" | Mutations in globin gene | | align="center" style="background:#F5F5F5;" | Mutations in globin gene | ||
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| align="center" style="background:#F5F5F5;" | [[Cyanosis]] | | align="center" style="background:#F5F5F5;" | [[Cyanosis]] | ||
| align="center" style="background:#F5F5F5;" | Inaccurately Nl | | align="center" style="background:#F5F5F5;" | Inaccurately Nl | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | Nl | | align="center" style="background:#F5F5F5;" | Nl | ||
| align="center" style="background:#F5F5F5;" | − | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | − | | align="center" style="background:#F5F5F5;" | − | ||
| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
* Altered mental status | * [[Altered mental status]] | ||
| align="center" style="background:#F5F5F5;" | ↑ | | align="center" style="background:#F5F5F5;" | ↑ | ||
| align="center" style="background:#F5F5F5;" | ↑ | | align="center" style="background:#F5F5F5;" | ↑ | ||
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|- | |- | ||
! align="center" style="background:#DCDCDC;" |Primary familial and congenital polycythemia<ref>Bento C, McMullin MF, Percy M, et al. Primary Familial and Congenital Polycythemia. 2016 Nov 10. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK395975/</ref> | ! align="center" style="background:#DCDCDC;" |Primary familial and congenital polycythemia<ref>Bento C, McMullin MF, Percy M, et al. Primary Familial and Congenital Polycythemia. 2016 Nov 10. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK395975/</ref> | ||
| align="center" style="background:#F5F5F5;" | Autosomal dominant inheritance | | align="center" style="background:#F5F5F5;" | [[Autosomal dominant]] inheritance | ||
| align="center" style="background:#F5F5F5;" | EPOR mutation | | align="center" style="background:#F5F5F5;" | EPOR mutation | ||
| align="center" style="background:#F5F5F5;" | Very rare | | align="center" style="background:#F5F5F5;" | Very rare | ||
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| align="center" style="background:#F5F5F5;" | Facial plethora | | align="center" style="background:#F5F5F5;" | Facial plethora | ||
| align="center" style="background:#F5F5F5;" |Nl | | align="center" style="background:#F5F5F5;" |Nl | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | Nl to ↑ | | align="center" style="background:#F5F5F5;" | Nl to ↑ | ||
| align="center" style="background:#F5F5F5;" | − | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | − | | align="center" style="background:#F5F5F5;" | − | ||
| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
* Altered mental status | * [[Altered mental status]] | ||
| align="center" style="background:#F5F5F5;" | ↑ | | align="center" style="background:#F5F5F5;" | ↑ | ||
| align="center" style="background:#F5F5F5;" | ↑ | | align="center" style="background:#F5F5F5;" | ↑ | ||
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| align="center" style="background:#F5F5F5;" | Nl to ↓ | | align="center" style="background:#F5F5F5;" | Nl to ↓ | ||
| align="center" style="background:#F5F5F5;" | NA | | align="center" style="background:#F5F5F5;" | NA | ||
| align="center" style="background:#F5F5F5;" | Isolated erythrocytosis + genetic testing | | align="center" style="background:#F5F5F5;" | Isolated [[erythrocytosis]] + [[genetic testing]] | ||
| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
* Mild manifestations of hyperviscosity | * Mild manifestations of hyperviscosity | ||
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| align="center" style="background:#F5F5F5;" | − | | align="center" style="background:#F5F5F5;" | − | ||
| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
* Dizziness | * [[Dizziness]] | ||
* Altered cognition | * [[Altered mental state|Altered cognition]] | ||
| align="center" style="background:#F5F5F5;" | [[Cyanosis]], flushed cheeks | | align="center" style="background:#F5F5F5;" | [[Cyanosis]], flushed cheeks | ||
| align="center" style="background:#F5F5F5;" |Nl | | align="center" style="background:#F5F5F5;" |Nl | ||
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| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
* Reduced plasma volume | * Reduced plasma volume | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" |Any | | align="center" style="background:#F5F5F5;" |Any | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
* Dizziness | * [[Dizziness]] | ||
| align="center" style="background:#F5F5F5;" |Nl | | align="center" style="background:#F5F5F5;" |Nl | ||
| align="center" style="background:#F5F5F5;" | Nl | | align="center" style="background:#F5F5F5;" | Nl | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | Nl to ↓ | | align="center" style="background:#F5F5F5;" | Nl to ↓ | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | ↑ | | align="center" style="background:#F5F5F5;" | ↑ | ||
| align="center" style="background:#F5F5F5;" |Nl | | align="center" style="background:#F5F5F5;" |Nl | ||
Line 299: | Line 299: | ||
* Reduced plasma volume | * Reduced plasma volume | ||
* Accelerated [[erythropoiesis]] | * Accelerated [[erythropoiesis]] | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | Athletes | | align="center" style="background:#F5F5F5;" | Athletes | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | + | | align="center" style="background:#F5F5F5;" | + | ||
| align="center" style="background:#F5F5F5;" | + | | align="center" style="background:#F5F5F5;" | + | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | [[Acne vulgaris|Acne]] and [[hirsutism]] | | align="center" style="background:#F5F5F5;" | [[Acne vulgaris|Acne]] and [[hirsutism]] | ||
| align="center" style="background:#F5F5F5;" | Nl | | align="center" style="background:#F5F5F5;" | Nl | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" |Nl to ↑ | | align="center" style="background:#F5F5F5;" |Nl to ↑ | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
* Gynecomastia | * [[Gynecomastia]] | ||
| align="center" style="background:#F5F5F5;" | ↑ | | align="center" style="background:#F5F5F5;" | ↑ | ||
| align="center" style="background:#F5F5F5;" | ↑ | | align="center" style="background:#F5F5F5;" | ↑ | ||
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* [[Cardiomegaly|Cardiac hypertrophy]] | * [[Cardiomegaly|Cardiac hypertrophy]] | ||
|- | |- | ||
! align="center" style="background:#DCDCDC;" | | ! align="center" style="background:#DCDCDC;" |Self−injection of [[erythropoietin]]<ref name="Elliott20082">{{cite journal|last1=Elliott|first1=S|title=Erythropoiesis-stimulating agents and other methods to enhance oxygen transport|journal=British Journal of Pharmacology|volume=154|issue=3|year=2008|pages=529–541|issn=00071188|doi=10.1038/bjp.2008.89}}</ref> | ||
| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
* Reduced plasma volume | * Reduced plasma volume | ||
* Accelerated [[erythropoiesis]] | * Accelerated [[erythropoiesis]] | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | Athletes | | align="center" style="background:#F5F5F5;" | Athletes | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | + | | align="center" style="background:#F5F5F5;" | + | ||
| align="center" style="background:#F5F5F5;" | + | | align="center" style="background:#F5F5F5;" | + | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | Muscular | | align="center" style="background:#F5F5F5;" | Muscular | ||
| align="center" style="background:#F5F5F5;" | ↓ | | align="center" style="background:#F5F5F5;" | ↓ | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" |↑ | | align="center" style="background:#F5F5F5;" |↑ | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | ↑ | | align="center" style="background:#F5F5F5;" | ↑ | ||
| align="center" style="background:#F5F5F5;" | ↑ | | align="center" style="background:#F5F5F5;" | ↑ | ||
Line 356: | Line 356: | ||
* [[Stroke]] | * [[Stroke]] | ||
* [[Thrombosis|Thromboembolic disease]] | * [[Thrombosis|Thromboembolic disease]] | ||
* | * Antibody-mediated anemia | ||
|- | |- | ||
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Secondary causes | ! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Secondary causes | ||
Line 433: | Line 433: | ||
| align="center" style="background:#F5F5F5;" |ACVRL1, ENG, GDF2, SMAD4 mutation | | align="center" style="background:#F5F5F5;" |ACVRL1, ENG, GDF2, SMAD4 mutation | ||
| align="center" style="background:#F5F5F5;" |Children | | align="center" style="background:#F5F5F5;" |Children | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | + | | align="center" style="background:#F5F5F5;" | + | ||
| align="center" style="background:#F5F5F5;" | + | | align="center" style="background:#F5F5F5;" | + | ||
| align="center" style="background:#F5F5F5;" | [[Gastrointestinal bleeding|GI bleeding]] | | align="center" style="background:#F5F5F5;" | [[Gastrointestinal bleeding|GI bleeding]] | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
* [[Epistaxis]] | * [[Epistaxis]] | ||
Line 443: | Line 443: | ||
| align="center" style="background:#F5F5F5;" |Multiple [[telangiectasia]] on face, extremities, and body | | align="center" style="background:#F5F5F5;" |Multiple [[telangiectasia]] on face, extremities, and body | ||
| align="center" style="background:#F5F5F5;" | Nl to ↓ | | align="center" style="background:#F5F5F5;" | Nl to ↓ | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | Nl | | align="center" style="background:#F5F5F5;" | Nl | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | | | align="center" style="background:#F5F5F5;" | − | ||
| align="center" style="background:#F5F5F5;" | ↑/↓ | | align="center" style="background:#F5F5F5;" | ↑/↓ | ||
| align="center" style="background:#F5F5F5;" | ↑/↓ | | align="center" style="background:#F5F5F5;" | ↑/↓ |
Revision as of 14:01, 24 August 2018
Polycythemia Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
Polycythemia differential diagnosis On the Web |
American Roentgen Ray Society Images of Polycythemia differential diagnosis |
Risk calculators and risk factors for Polycythemia differential diagnosis |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sadaf Sharfaei M.D.[2]
Overview
Polycythemia manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. Primary and secondary polycythemia must be differentiated from each other. Primary polycythemia might be seen in patients with various mutations. Iatrogenic causes including medications, athletic drugs, and smoking might cause primary polycythemia. Secondary polycythemia must be differentiated in patients with chronic hypoxemia, erythropoietin producing tumors, or arteriovenous malformations.
Differential Diagnosis of Polycythemia
Polycythemia must be differentiated from a variety of other conditions.[1][2][3]
Category | Disease | Etiology | Mutation | Clinical manifestations | Laboratory findings | Gold standard disgnosis | Associated findings | ||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Demography | Symptoms | Signs | CBC | EPO level | PBS | ||||||||||||||||||||
Fatigue | Headache | Shortness of breath | Bleeding | Pain | Other symptoms | Appearance | SaO2 | Fever | BP | Tenderness | Splenomegaly | Other signs | Hb | RBC | WBC | Plt | |||||||||
Mutational causes | Polycythemia vera (PV)[4] |
|
JAK2 mutation (> 95%) | Mean age >60 years old | + | + | + | ± | Facial plethora | Nl | − | ↑ |
|
+ | ↑ | ↑ RBC mass | Nl to ↑ | Nl to ↑ | ↓ |
|
WHO criteria for PV | ||||
Chuvash polycythemia[5] | Hypoxia-sensing disorder | VHL mutation | Russia, Italy
<40 years old |
+ | + | + | ± | Facial plethora | ↓ | − | ↑ |
|
+ | ↑ | ↑ | Nl | Nl | ↑ |
|
Molecular genetic testing |
| ||||
Hereditary methemoglobinemia[6] |
|
Mutations in globin gene | Infants | ± | ± | ± | − | − | − | Cyanosis | Inaccurately Nl | − | Nl | − | − | ↑ | ↑ | Nl | Nl | Nl | NA | RBC enzyme activity + DNA analysis |
| ||
Primary familial and congenital polycythemia[7] | Autosomal dominant inheritance | EPOR mutation | Very rare | + | + | ± | − | − | − | Facial plethora | Nl | − | Nl to ↑ | − | − | ↑ | ↑ | Nl | Nl | Nl to ↓ | NA | Isolated erythrocytosis + genetic testing |
| ||
Category | Disease | Etiology | Mutation | Demography | Fatigue | Headache | Shortness of breath | Bleeding | Pain | Other symptoms | Appearance | SaO2 | Fever | BP | Tenderness | Splenomegaly | Other signs | Hb | RBC | WBC | Plt | EPO level | PBS | Gold standard diagnosis | Associated findings |
Iatrogenic causes | Smoking[8][9] |
|
− | Any | − | − | + | − | − | − | Cyanosis | ↓ | − | Nl | − | − | − | ↑ | Nl | Nl to ↑ | Nl to ↑ | Nl to ↓ | NA | Clinical manifestation | NA |
Chronic exposure to carbon monoxide[10] |
|
− | Miners, fire fighters | + | + | + | − | − | Cyanosis, flushed cheeks | Nl | − | Nl | − | − | − | ↑ | ↑ | Nl | Nl | Nl to ↓ | NA | Blood level of carboxyhemoglobin |
| ||
Diuretics[11] |
|
− | Any | − | − | − | − | − | Nl | Nl | − | Nl to ↓ | − | − | − | ↑ | Nl | Nl | Nl | Nl to ↓ | NA | Clinical manifestation | NA | ||
Use of androgens or anabolic steroids[12][13] |
|
− | Athletes | − | + | + | − | − | − | Acne and hirsutism | Nl | − | Nl to ↑ | − | − | ↑ | ↑ | Nl | Nl | ↓ | NA | Clinical manifestation | |||
Self−injection of erythropoietin[14] |
|
− | Athletes | − | + | + | − | − | − | Muscular | ↓ | − | ↑ | − | − | − | ↑ | ↑ | Nl | Nl | ↑ | NA | Erythropoietin level |
| |
Secondary causes | Secondary polycythemia due to hypoxemia[15] |
|
− | Depends on etiology | + | + | + | − | Depends on etiology | Cyanosis | ↓ | − | Nl to ↑ | − | − | ↑ | ↑ | Nl | Nl | ↑ | NA | Clinical manifestation + imaging |
| ||
Secondary polycythemia due to erythropoietin producing tumor[16] | − | Depends on etiology | + | − | − | − | Depends on etiology | Depends on etiology | Chronically ill | Nl | ± | Nl to ↑ | ± | ± | ↑/↓ | ↑/↓ | Nl | ↑ | ↑ | NA | Clinical manifestation + biopsy |
| |||
Hereditary hemorrhagic telangiectasia[17] | ACVRL1, ENG, GDF2, SMAD4 mutation | Children | − | + | + | GI bleeding | − | Multiple telangiectasia on face, extremities, and body | Nl to ↓ | − | Nl | − | − | − | ↑/↓ | ↑/↓ | Nl | Nl | ↑/↓ | NA | Clinical criteria + genomic testing | ||||
Category | Disease | Etiology | Mutation | Demography | Fatigue | Headache | Shortness of breath | Bleeding | Pain | Other symptoms | Appearance | SaO2 | Fever | BP | Tenderness | Splenomegaly | Other signs | Hb | RBC | WBC | Plt | EPO level | PBS | Gold standard diagnosis | Associated findings |
References
- ↑ Tefferi A, Barbui T (2015). "Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management". Am J Hematol. 90 (2): 162–73. doi:10.1002/ajh.23895. PMID 25611051.
- ↑ Sanchez S, Ewton A (2006). "Essential thrombocythemia: a review of diagnostic and pathologic features". Arch Pathol Lab Med. 130 (8): 1144–50. doi:10.1043/1543-2165(2006)130[1144:ET]2.0.CO;2. PMID 16879015.
- ↑ Jabbour E, Kantarjian H (2014). "Chronic myeloid leukemia: 2014 update on diagnosis, monitoring, and management". Am J Hematol. 89 (5): 547–56. doi:10.1002/ajh.23691. PMID 24729196.
- ↑ Stein, Brady L.; Oh, Stephen T.; Berenzon, Dmitriy; Hobbs, Gabriela S.; Kremyanskaya, Marina; Rampal, Raajit K.; Abboud, Camille N.; Adler, Kenneth; Heaney, Mark L.; Jabbour, Elias J.; Komrokji, Rami S.; Moliterno, Alison R.; Ritchie, Ellen K.; Rice, Lawrence; Mascarenhas, John; Hoffman, Ronald (2015). "Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery ofJAK2 V617F". Journal of Clinical Oncology. 33 (33): 3953–3960. doi:10.1200/JCO.2015.61.6474. ISSN 0732-183X.
- ↑ Zhou, Amy W.; Knoche, Eric M.; Engle, Elizabeth K.; Ban-Hoefen, Makiko; Kaiwar, Charu; Oh, Stephen T. (2016). "Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia". New England Journal of Medicine. 375 (5): 494–496. doi:10.1056/NEJMc1600337. ISSN 0028-4793.
- ↑ Da-Silva SS, Sajan IS, Underwood JP (August 2003). "Congenital methemoglobinemia: a rare cause of cyanosis in the newborn--a case report". Pediatrics. 112 (2): e158–61. PMID 12897322.
- ↑ Bento C, McMullin MF, Percy M, et al. Primary Familial and Congenital Polycythemia. 2016 Nov 10. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK395975/
- ↑ Hasselbalch, Hans Carl (2015). "Smoking as a contributing factor for development of polycythemia vera and related neoplasms". Leukemia Research. 39 (11): 1137–1145. doi:10.1016/j.leukres.2015.09.002. ISSN 0145-2126.
- ↑ Malenica, Maja; Prnjavorac, Besim; Bego, Tamer; Dujic, Tanja; Semiz, Sabina; Skrbo, Selma; Gusic, Amar; Hadzic, Ajla; Causevic, Adlija (2017). "Effect of Cigarette Smoking on Haematological Parameters in Healthy Population". Medical Archives. 71 (2): 132. doi:10.5455/medarh.2017.71.132-136. ISSN 0350-199X.
- ↑ Wu, P. E.; Juurlink, D. N. (2014). "Carbon monoxide poisoning". Canadian Medical Association Journal. 186 (8): 611–611. doi:10.1503/cmaj.130972. ISSN 0820-3946.
- ↑ Pollak R, Maddux MS, Cohan J, Jacobsson PK, Mozes MF (March 1988). "Erythrocythemia following renal transplantation: influence of diuretic therapy". Clin. Nephrol. 29 (3): 119–23. PMID 3282731.
- ↑ Krauss DJ, Taub HA, Lantinga LJ, Dunsky MH, Kelly CM (December 1991). "Risks of blood volume changes in hypogonadal men treated with testosterone enanthate for erectile impotence". J. Urol. 146 (6): 1566–70. PMID 1942342.
- ↑ Morales A, Johnston B, Heaton JP, Lundie M (March 1997). "Testosterone supplementation for hypogonadal impotence: assessment of biochemical measures and therapeutic outcomes". J. Urol. 157 (3): 849–54. PMID 9072584.
- ↑ Elliott, S (2008). "Erythropoiesis-stimulating agents and other methods to enhance oxygen transport". British Journal of Pharmacology. 154 (3): 529–541. doi:10.1038/bjp.2008.89. ISSN 0007-1188.
- ↑ Nadeem, Omar; Gui, Jiang; Ornstein, Deborah L. (2012). "Prevalence of Venous Thromboembolism in Patients With Secondary Polycythemia". Clinical and Applied Thrombosis/Hemostasis. 19 (4): 363–366. doi:10.1177/1076029612460425. ISSN 1076-0296.
- ↑ Da Silva JL, Lacombe C, Bruneval P, Casadevall N, Leporrier M, Camilleri JP, Bariety J, Tambourin P, Varet B (February 1990). "Tumor cells are the site of erythropoietin synthesis in human renal cancers associated with polycythemia". Blood. 75 (3): 577–82. PMID 2297568.
- ↑ McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. 2000 Jun 26 [Updated 2017 Feb 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1351/