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Chuvash polycythemia(ECYT2)

MedGen UID:
332974
Concept ID:
C1837915
Disease or Syndrome
Synonyms: Erythrocytosis, familial, 2; POLYCYTHEMIA, VHL-DEPENDENT
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): VHL (3p25.3)
 
Monarch Initiative: MONDO:0009892
OMIM®: 263400
Orphanet: ORPHA238557

Definition

Familial erythrocytosis-2 (ECYT2) 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 may be hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100). [from OMIM]

Additional description

From MedlinePlus Genetics
Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke. However, many people with familial erythrocytosis experience only mild signs and symptoms or never have any problems related to their extra red blood cells.  https://medlineplus.gov/genetics/condition/familial-erythrocytosis

Clinical features

From HPO
Fatigue
MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Hemangioma
MedGen UID:
5477
Concept ID:
C0018916
Neoplastic Process
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
Hypotension
MedGen UID:
5715
Concept ID:
C0020649
Finding
Low Blood Pressure, vascular hypotension.
Stroke disorder
MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Varicose disease
MedGen UID:
21827
Concept ID:
C0042345
Disease or Syndrome
Enlarged and tortuous veins.
Cerebral hemorrhage
MedGen UID:
423648
Concept ID:
C2937358
Pathologic Function
Hemorrhage into the parenchyma of the brain.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Increased hematocrit
MedGen UID:
68692
Concept ID:
C0239935
Finding
An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.
Increased circulating hemoglobin concentration
MedGen UID:
108199
Concept ID:
C0549448
Finding
Concentration of hemoglobin in the blood circulation above the upper limit of normal.
Peripheral thrombosis
MedGen UID:
337901
Concept ID:
C1849749
Pathologic Function
Increased red blood cell mass
MedGen UID:
377869
Concept ID:
C1853288
Finding
The presence of an increased mass of red blood cells in the circulation.
Plethora
MedGen UID:
115911
Concept ID:
C0232370
Finding
Elevated circulating erythropoietin concentration
MedGen UID:
1784401
Concept ID:
C5539741
Finding
Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Chuvash polycythemia in Orphanet.

Professional guidelines

PubMed

Gordeuk VR
Clin Adv Hematol Oncol 2011 Dec;9(12):929-30. PMID: 22252661

Curated

Hussein K, Percy M, McMullin MF
Eur J Hum Genet 2012 May;20(5) Epub 2012 Jan 25 doi: 10.1038/ejhg.2011.252. PMID: 22274579Free PMC Article

Recent clinical studies

Therapy

Zhang X, Zhang W, Ma SF, Miasniakova G, Sergueeva A, Ammosova T, Xu M, Nekhai S, Nourai M, Wade MS, Prchal JT, Garcia JGN, Machado RF, Gordeuk VR
Blood Cells Mol Dis 2014 Jan;52(1):35-45. Epub 2013 Aug 28 doi: 10.1016/j.bcmd.2013.07.016. PMID: 23993337Free PMC Article
Smith TG, Chang RW, Robbins PA, Dorrington KL
Aviat Space Environ Med 2013 Jan;84(1):65-7. doi: 10.3357/asem.3451.2013. PMID: 23305002
McClain DA, Abuelgasim KA, Nouraie M, Salomon-Andonie J, Niu X, Miasnikova G, Polyakova LA, Sergueeva A, Okhotin DJ, Cherqaoui R, Okhotin D, Cox JE, Swierczek S, Song J, Simon MC, Huang J, Simcox JA, Yoon D, Prchal JT, Gordeuk VR
J Mol Med (Berl) 2013 Jan;91(1):59-67. Epub 2012 Sep 27 doi: 10.1007/s00109-012-0961-5. PMID: 23015148Free PMC Article
van Rooijen E, Voest EE, Logister I, Korving J, Schwerte T, Schulte-Merker S, Giles RH, van Eeden FJ
Blood 2009 Jun 18;113(25):6449-60. Epub 2009 Mar 20 doi: 10.1182/blood-2008-07-167890. PMID: 19304954
Gordeuk VR, Prchal JT
Semin Thromb Hemost 2006 Apr;32(3):289-94. doi: 10.1055/s-2006-939441. PMID: 16673284

Prognosis

Hudler P, Urbancic M
Genes (Basel) 2022 Feb 17;13(2) doi: 10.3390/genes13020362. PMID: 35205407Free PMC Article
Gangat N, Szuber N, Pardanani A, Tefferi A
Leukemia 2021 Aug;35(8):2166-2181. Epub 2021 May 21 doi: 10.1038/s41375-021-01290-6. PMID: 34021251Free PMC Article
Toyoda H, Hirayama J, Sugimoto Y, Uchida K, Ohishi K, Hirayama M, Komada Y
Pediatrics 2014 Jun;133(6):e1787-91. Epub 2014 May 12 doi: 10.1542/peds.2013-2419. PMID: 24819565
Sable CA, Aliyu ZY, Dham N, Nouraie M, Sachdev V, Sidenko S, Miasnikova GY, Polyakova LA, Sergueeva AI, Okhotin DJ, Bushuev V, Remaley AT, Niu X, Castro OL, Gladwin MT, Kato GJ, Prchal JT, Gordeuk VR
Haematologica 2012 Feb;97(2):193-200. Epub 2011 Oct 11 doi: 10.3324/haematol.2011.051839. PMID: 21993671Free PMC Article
Gordeuk VR, Sergueeva AI, Miasnikova GY, Okhotin D, Voloshin Y, Choyke PL, Butman JA, Jedlickova K, Prchal JT, Polyakova LA
Blood 2004 May 15;103(10):3924-32. Epub 2004 Jan 15 doi: 10.1182/blood-2003-07-2535. PMID: 14726398

Clinical prediction guides

Hudler P, Urbancic M
Genes (Basel) 2022 Feb 17;13(2) doi: 10.3390/genes13020362. PMID: 35205407Free PMC Article
Ghosh MC, Zhang DL, Ollivierre H, Eckhaus MA, Rouault TA
J Clin Invest 2018 Apr 2;128(4):1317-1325. Epub 2018 Feb 26 doi: 10.1172/JCI97684. PMID: 29480820Free PMC Article
Couvé S, Ladroue C, Laine E, Mahtouk K, Guégan J, Gad S, Le Jeune H, Le Gentil M, Nuel G, Kim WY, Lecomte B, Pagès JC, Collin C, Lasne F, Benusiglio PR, Bressac-de Paillerets B, Feunteun J, Lazar V, Gimenez-Roqueplo AP, Mazure NM, Dessen P, Tchertanov L, Mole DR, Kaelin W, Ratcliffe P, Richard S, Gardie B
Cancer Res 2014 Nov 15;74(22):6554-64. Epub 2014 Nov 4 doi: 10.1158/0008-5472.CAN-14-1161. PMID: 25371412Free PMC Article
McClain DA, Abuelgasim KA, Nouraie M, Salomon-Andonie J, Niu X, Miasnikova G, Polyakova LA, Sergueeva A, Okhotin DJ, Cherqaoui R, Okhotin D, Cox JE, Swierczek S, Song J, Simon MC, Huang J, Simcox JA, Yoon D, Prchal JT, Gordeuk VR
J Mol Med (Berl) 2013 Jan;91(1):59-67. Epub 2012 Sep 27 doi: 10.1007/s00109-012-0961-5. PMID: 23015148Free PMC Article
Gordeuk VR, Miasnikova GY, Sergueeva AI, Niu X, Nouraie M, Okhotin DJ, Polyakova LA, Ammosova T, Nekhai S, Ganz T, Prchal JT
Blood 2011 Nov 10;118(19):5278-82. Epub 2011 Aug 29 doi: 10.1182/blood-2011-03-345512. PMID: 21876117Free PMC Article

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