U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Erythrocytosis, familial, 3(ECYT3)

MedGen UID:
377868
Concept ID:
C1853286
Disease or Syndrome
Synonym: ECYT3
 
Gene (location): EGLN1 (1q42.2)
 
Monarch Initiative: MONDO:0012353
OMIM®: 609820

Definition

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. [from MedlinePlus Genetics]

Clinical features

From HPO
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.
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.

Professional guidelines

PubMed

Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
Roskoski R Jr
Pharmacol Res 2022 Sep;183:106362. Epub 2022 Jul 22 doi: 10.1016/j.phrs.2022.106362. PMID: 35878738
Cario H
Ann Hematol 2005 Mar;84(3):137-45. Epub 2004 Dec 15 doi: 10.1007/s00277-004-0985-1. PMID: 15599750

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

Etiology

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
J Clin Oncol 2023 Jul 1;41(19):3534-3544. Epub 2023 May 1 doi: 10.1200/JCO.22.01935. PMID: 37126762Free PMC Article
Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
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
Chiarello P, Magnolia M, Rubino M, Liguori SA, Miniero R
Minerva Pediatr 2011 Dec;63(6):507-13. PMID: 22075805
Gordeuk VR, Stockton DW, Prchal JT
Haematologica 2005 Jan;90(1):109-16. PMID: 15642677

Diagnosis

Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
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
Mallik N, Das R, Malhotra P, Sharma P
Eur J Haematol 2021 Jul;107(1):29-37. Epub 2021 Apr 23 doi: 10.1111/ejh.13632. PMID: 33840141
Chiarello P, Magnolia M, Rubino M, Liguori SA, Miniero R
Minerva Pediatr 2011 Dec;63(6):507-13. PMID: 22075805
Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR, Futreal PA, Erber WN, McMullin MF, Harrison CN, Warren AJ, Gilliland DG, Lodish HF, Green AR
N Engl J Med 2007 Feb 1;356(5):459-68. doi: 10.1056/NEJMoa065202. PMID: 17267906Free PMC Article

Therapy

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
J Clin Oncol 2023 Jul 1;41(19):3534-3544. Epub 2023 May 1 doi: 10.1200/JCO.22.01935. PMID: 37126762Free PMC Article
Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
Roskoski R Jr
Pharmacol Res 2022 Sep;183:106362. Epub 2022 Jul 22 doi: 10.1016/j.phrs.2022.106362. PMID: 35878738
Roskoski R Jr
Pharmacol Res 2020 Feb;152:104609. Epub 2019 Dec 17 doi: 10.1016/j.phrs.2019.104609. PMID: 31862477
Wit JM, Hero M, Nunez SB
Nat Rev Endocrinol 2011 Oct 25;8(3):135-47. doi: 10.1038/nrendo.2011.161. PMID: 22024975

Prognosis

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
J Clin Oncol 2023 Jul 1;41(19):3534-3544. Epub 2023 May 1 doi: 10.1200/JCO.22.01935. PMID: 37126762Free PMC Article
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
Wojchowski DM, Gregory RC, Miller CP, Pandit AK, Pircher TJ
Exp Cell Res 1999 Nov 25;253(1):143-56. doi: 10.1006/excr.1999.4673. PMID: 10579919
Prchal JT, Sokol L
Eur J Haematol 1996 Oct;57(4):263-8. PMID: 8982288

Clinical prediction guides

Sochorcova L, Hlusickova Kapralova K, Fialova Kucerova J, Pospisilova D, Prochazkova D, Jahoda O, Kurekova S, Kralova B, Divoka M, Navratilova J, Manakova J, Kriegova E, Indrak K, Faber E, Divoky V, Horvathova M
Br J Haematol 2023 Aug;202(3):674-685. Epub 2023 May 28 doi: 10.1111/bjh.18891. PMID: 37246471
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
J Clin Oncol 2023 Jul 1;41(19):3534-3544. Epub 2023 May 1 doi: 10.1200/JCO.22.01935. PMID: 37126762Free PMC Article
Hudler P, Urbancic M
Genes (Basel) 2022 Feb 17;13(2) doi: 10.3390/genes13020362. PMID: 35205407Free PMC Article
Ranjan A, Penninga E, Jelsig AM, Hasselbalch HC, Bjerrum OW
Clin Genet 2013 Feb;83(2):99-107. Epub 2012 Nov 20 doi: 10.1111/cge.12044. PMID: 23094849
Pérez-Encinas M, Bello JL, Pérez-Crespo S, De Miguel R, Tome S
Am J Hematol 1994 Jul;46(3):225-9. doi: 10.1002/ajh.2830460312. PMID: 8192153

Recent systematic reviews

Ranjan A, Penninga E, Jelsig AM, Hasselbalch HC, Bjerrum OW
Clin Genet 2013 Feb;83(2):99-107. Epub 2012 Nov 20 doi: 10.1111/cge.12044. PMID: 23094849

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...