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Plethora

MedGen UID:
115911
Concept ID:
C0232370
Finding
Synonyms: Florid red complexion
SNOMED CT: Plethora (75246004); Florid red complexion (75246004)
 
HPO: HP:0001050

Conditions with this feature

Erythrocytosis, familial, 2
MedGen UID:
332974
Concept ID:
C1837915
Disease or Syndrome
Familial erythrocytosis-2 is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors are also hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005).
Familial erythrocytosis, 1
MedGen UID:
343583
Concept ID:
C1851490
Disease or Syndrome
Familial erythrocytosis-1 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. There is no increase in platelets or leukocytes and the disorder does not progress to leukemia (Kralovics et al., 1998). Genetic Heterogeneity of Familial Erythrocytosis See also ECYT2 (263400), caused by mutation in the VHL gene (608537) on chromosome 3p25; ECYT3 (609820), caused by mutation in the EGLN1 gene (606425) on chromosome 1q42; and ECYT4 (611783), caused by mutation in the EPAS1 gene (603349) on chromosome 2p. Erythrocytosis may also be caused by somatic mutation in the JAK2 (147796) or the SH2B3 (605093) gene on chromosome 9p24 and 12q24, respectively. For a review of the genetics of congenital erythrocytosis, see Bento et al. (2014).

Recent clinical studies

Etiology

Afshari A, Ardeshirpour Y, Lodish MB, Gourgari E, Sinaii N, Keil M, Belyavskaya E, Lyssikatos C, Chowdhry FA, Chernomordik V, Anderson AA, Mazzuchi TA, Gandjbakhche A, Stratakis CA
J Clin Endocrinol Metab 2015 Oct;100(10):3928-33. Epub 2015 Aug 24 doi: 10.1210/jc.2015-2497. PMID: 26301943Free PMC Article
Rayner JC, Liu W, Peeters M, Sharp PM, Hahn BH
Trends Parasitol 2011 May;27(5):222-9. Epub 2011 Feb 25 doi: 10.1016/j.pt.2011.01.006. PMID: 21354860Free PMC Article
Flood M, Phillips KD
Issues Ment Health Nurs 2007 Apr;28(4):389-411. doi: 10.1080/01612840701252956. PMID: 17454290
Chestnut JL
J Manipulative Physiol Ther 2004 Jun;27(5):368-72. doi: 10.1016/j.jmpt.2004.04.011. PMID: 15195044
Peeters M, Courgnaud V, Abela B, Auzel P, Pourrut X, Bibollet-Ruche F, Loul S, Liegeois F, Butel C, Koulagna D, Mpoudi-Ngole E, Shaw GM, Hahn BH, Delaporte E
Emerg Infect Dis 2002 May;8(5):451-7. doi: 10.3201/eid0805.010522. PMID: 11996677Free PMC Article

Diagnosis

Rodrigues D, Longatto-Filho A, Martins SF
Biomed Res Int 2016;2016:6896024. Epub 2016 Aug 1 doi: 10.1155/2016/6896024. PMID: 27563673Free PMC Article
Afshari A, Ardeshirpour Y, Lodish MB, Gourgari E, Sinaii N, Keil M, Belyavskaya E, Lyssikatos C, Chowdhry FA, Chernomordik V, Anderson AA, Mazzuchi TA, Gandjbakhche A, Stratakis CA
J Clin Endocrinol Metab 2015 Oct;100(10):3928-33. Epub 2015 Aug 24 doi: 10.1210/jc.2015-2497. PMID: 26301943Free PMC Article
Kumari S, Wälchli S, Fallang LE, Yang W, Lund-Johansen F, Schumacher TN, Olweus J
Proc Natl Acad Sci U S A 2014 Jan 7;111(1):403-8. Epub 2013 Dec 16 doi: 10.1073/pnas.1306549111. PMID: 24344295Free PMC Article
Damian DL, Bertouch JV
Am J Med 2010 Oct;123(10):904-6. doi: 10.1016/j.amjmed.2010.06.009. PMID: 20920690
Devreese K, Hoylaerts MF
Eur J Haematol 2009 Jul;83(1):1-16. Epub 2009 Feb 17 doi: 10.1111/j.1600-0609.2009.01243.x. PMID: 19226362

Therapy

Kaur M, Singh M, Chadha N, Silakari O
Eur J Med Chem 2016 Nov 10;123:858-94. Epub 2016 Aug 8 doi: 10.1016/j.ejmech.2016.08.011. PMID: 27543880
Vishnu Priya M, Sabitha M, Jayakumar R
Carbohydr Polym 2016 Jan 20;136:609-17. Epub 2015 Sep 25 doi: 10.1016/j.carbpol.2015.09.054. PMID: 26572393
Ali M, Afzal M, Kaushik U, Bhattacharya SM, Ahmad FJ, Dinda AK
J Drug Target 2014 Jan;22(1):1-13. Epub 2013 Sep 5 doi: 10.3109/1061186X.2013.832766. PMID: 24004100
Yao Q, Cao S, Li C, Mengesha A, Low P, Kong B, Dai S, Wei M
Biochem Biophys Res Commun 2010 Jul 30;398(3):413-9. Epub 2010 Jun 25 doi: 10.1016/j.bbrc.2010.06.089. PMID: 20599713
Schmidinger M, Bellmunt J
Cancer Treat Rev 2010 Aug;36(5):416-24. Epub 2010 Feb 16 doi: 10.1016/j.ctrv.2010.01.003. PMID: 20163917

Prognosis

Rodrigues D, Longatto-Filho A, Martins SF
Biomed Res Int 2016;2016:6896024. Epub 2016 Aug 1 doi: 10.1155/2016/6896024. PMID: 27563673Free PMC Article
Fromm B, Trelis M, Hackenberg M, Cantalapiedra F, Bernal D, Marcilla A
Int J Parasitol 2015 Sep;45(11):697-702. Epub 2015 Jul 13 doi: 10.1016/j.ijpara.2015.06.002. PMID: 26183562
Kumari S, Wälchli S, Fallang LE, Yang W, Lund-Johansen F, Schumacher TN, Olweus J
Proc Natl Acad Sci U S A 2014 Jan 7;111(1):403-8. Epub 2013 Dec 16 doi: 10.1073/pnas.1306549111. PMID: 24344295Free PMC Article
King RL, Howard MT, Bagg A
Adv Anat Pathol 2014 Jan;21(1):12-25. doi: 10.1097/PAP.0000000000000002. PMID: 24316907
Schmidinger M, Bellmunt J
Cancer Treat Rev 2010 Aug;36(5):416-24. Epub 2010 Feb 16 doi: 10.1016/j.ctrv.2010.01.003. PMID: 20163917

Clinical prediction guides

Rodrigues D, Longatto-Filho A, Martins SF
Biomed Res Int 2016;2016:6896024. Epub 2016 Aug 1 doi: 10.1155/2016/6896024. PMID: 27563673Free PMC Article
Fromm B, Trelis M, Hackenberg M, Cantalapiedra F, Bernal D, Marcilla A
Int J Parasitol 2015 Sep;45(11):697-702. Epub 2015 Jul 13 doi: 10.1016/j.ijpara.2015.06.002. PMID: 26183562
Kumari S, Wälchli S, Fallang LE, Yang W, Lund-Johansen F, Schumacher TN, Olweus J
Proc Natl Acad Sci U S A 2014 Jan 7;111(1):403-8. Epub 2013 Dec 16 doi: 10.1073/pnas.1306549111. PMID: 24344295Free PMC Article
King RL, Howard MT, Bagg A
Adv Anat Pathol 2014 Jan;21(1):12-25. doi: 10.1097/PAP.0000000000000002. PMID: 24316907
Schmidinger M, Bellmunt J
Cancer Treat Rev 2010 Aug;36(5):416-24. Epub 2010 Feb 16 doi: 10.1016/j.ctrv.2010.01.003. PMID: 20163917

Recent systematic reviews

Rodrigues D, Longatto-Filho A, Martins SF
Biomed Res Int 2016;2016:6896024. Epub 2016 Aug 1 doi: 10.1155/2016/6896024. PMID: 27563673Free PMC Article
Karras S, Rapti E, Matsoukas S, Kotsa K
Nutrients 2016 Jun 4;8(6) doi: 10.3390/nu8060343. PMID: 27271665Free PMC Article
Lamont S, Jeon YH, Chiarella M
J Clin Nurs 2013 Sep;22(17-18):2387-403. Epub 2013 May 8 doi: 10.1111/jocn.12215. PMID: 23650907
Ball E, McLoughlin M, Darvill A
Nurse Educ Today 2011 Apr;31(3):299-303. Epub 2011 Feb 5 doi: 10.1016/j.nedt.2010.12.002. PMID: 21295895
Dent J, McCloy RF, Garner A, Matthews JB, Rune S, Blum AL
DICP 1990 Dec;24(12):1226-31. PMID: 2089836

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