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Erythrocytosis, familial, 4(ECYT4)

MedGen UID:
435867
Concept ID:
C2673187
Disease or Syndrome
Synonym: ECYT4
 
Gene (location): EPAS1 (2p21)
 
Monarch Initiative: MONDO:0012729
OMIM®: 611783

Definition

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). [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
Polycythemia
MedGen UID:
18552
Concept ID:
C0032461
Disease or Syndrome
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.
Deep venous thrombosis
MedGen UID:
57448
Concept ID:
C0149871
Disease or Syndrome
Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.
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.
Mesenteric venous thrombosis
MedGen UID:
120599
Concept ID:
C0267412
Pathologic Function
A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).
Increased circulating hemoglobin concentration
MedGen UID:
108199
Concept ID:
C0549448
Finding
Concentration of hemoglobin in the blood circulation above the upper limit of normal.
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
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.

Professional guidelines

PubMed

Marchetti M, Vannucchi AM, Griesshammer M, Harrison C, Koschmieder S, Gisslinger H, Álvarez-Larrán A, De Stefano V, Guglielmelli P, Palandri F, Passamonti F, Barosi G, Silver RT, Hehlmann R, Kiladjian JJ, Barbui T
Lancet Haematol 2022 Apr;9(4):e301-e311. doi: 10.1016/S2352-3026(22)00046-1. PMID: 35358444
Khaire NS, Jamwal M, Sharma P, Hira JK, Chhabra S, Malhotra P, Das R
Int J Lab Hematol 2022 Aug;44(4):e164-e167. Epub 2022 Mar 9 doi: 10.1111/ijlh.13821. PMID: 35266307
García-Patterson A, Martín E, Ubeda J, María MA, Adelantado JM, Ginovart G, de Leiva A, Corcoy R
Diabetes Care 2003 Apr;26(4):998-1001. doi: 10.2337/diacare.26.4.998. PMID: 12663563

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

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
Marchetti M, Vannucchi AM, Griesshammer M, Harrison C, Koschmieder S, Gisslinger H, Álvarez-Larrán A, De Stefano V, Guglielmelli P, Palandri F, Passamonti F, Barosi G, Silver RT, Hehlmann R, Kiladjian JJ, Barbui T
Lancet Haematol 2022 Apr;9(4):e301-e311. doi: 10.1016/S2352-3026(22)00046-1. PMID: 35358444
Gangat N, Oliveira JL, Hoyer JD, Patnaik MM, Pardanani A, Tefferi A
Am J Hematol 2021 Dec 1;96(12):1647-1654. Epub 2021 Oct 19 doi: 10.1002/ajh.26375. PMID: 34633117
Núñez-Martínez PM, Taja-Chayeb L, Ramírez-Otero MA, Fragoso-Ontiveros V, Wegman-Ostrosky T, Cruz-Robles D, Vidal Millán S
Bol Med Hosp Infant Mex 2021 May 3;78(4):341-345. doi: 10.24875/BMHIM.20000129. PMID: 33938902
Prchal JT, Sokol L
Eur J Haematol 1996 Oct;57(4):263-8. PMID: 8982288

Diagnosis

Cakmak HM, Kartal O, Kocaaga A, Bildirici Y
Pediatr Neonatol 2022 Nov;63(6):613-617. Epub 2022 Aug 6 doi: 10.1016/j.pedneo.2022.06.006. PMID: 36002380
Núñez-Martínez PM, Taja-Chayeb L, Ramírez-Otero MA, Fragoso-Ontiveros V, Wegman-Ostrosky T, Cruz-Robles D, Vidal Millán S
Bol Med Hosp Infant Mex 2021 May 3;78(4):341-345. doi: 10.24875/BMHIM.20000129. PMID: 33938902
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
Kristan A, Debeljak N, Kunej T
Eur J Haematol 2019 Oct;103(4):287-299. Epub 2019 Aug 23 doi: 10.1111/ejh.13304. PMID: 31376207
Prchal JT, Sokol L
Eur J Haematol 1996 Oct;57(4):263-8. PMID: 8982288

Therapy

Marchetti M, Vannucchi AM, Griesshammer M, Harrison C, Koschmieder S, Gisslinger H, Álvarez-Larrán A, De Stefano V, Guglielmelli P, Palandri F, Passamonti F, Barosi G, Silver RT, Hehlmann R, Kiladjian JJ, Barbui T
Lancet Haematol 2022 Apr;9(4):e301-e311. doi: 10.1016/S2352-3026(22)00046-1. PMID: 35358444
Gangat N, Oliveira JL, Hoyer JD, Patnaik MM, Pardanani A, Tefferi A
Am J Hematol 2021 Dec 1;96(12):1647-1654. Epub 2021 Oct 19 doi: 10.1002/ajh.26375. PMID: 34633117
Roskoski R Jr
Pharmacol Res 2020 Feb;152:104609. Epub 2019 Dec 17 doi: 10.1016/j.phrs.2019.104609. PMID: 31862477
Spivak JL, Barosi G, Tognoni G, Barbui T, Finazzi G, Marchioli R, Marchetti M
Hematology Am Soc Hematol Educ Program 2003:200-24. doi: 10.1182/asheducation-2003.1.200. PMID: 14633783
Maddrey WC
Semin Liver Dis 1987 Feb;7(1):32-9. doi: 10.1055/s-2008-1040561. PMID: 3296214

Prognosis

Baumeister J, Maié T, Chatain N, Gan L, Weinbergerova B, de Toledo MAS, Eschweiler J, Maurer A, Mayer J, Kubesova B, Racil Z, Schuppert A, Costa I, Koschmieder S, Brümmendorf TH, Gezer D
Ann Hematol 2021 Dec;100(12):2943-2956. Epub 2021 Aug 14 doi: 10.1007/s00277-021-04615-8. PMID: 34390367Free PMC Article
Kristan A, Gašperšič J, Režen T, Kunej T, Količ R, Vuga A, Fink M, Žula Š, Anžej Doma S, Preložnik Zupan I, Pajič T, Podgornik H, Debeljak N
J Clin Lab Anal 2021 Apr;35(4):e23715. Epub 2021 Feb 3 doi: 10.1002/jcla.23715. PMID: 33534944Free PMC Article
Kharazmi E, Pukkala E, Sundquist K, Hemminki K
Clin Gastroenterol Hepatol 2013 Aug;11(8):944-9. Epub 2013 Mar 15 doi: 10.1016/j.cgh.2013.02.025. PMID: 23500615
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
Yesilaltay A, Degirmenci H, Bilgen T, Sirin DY, Bayir D, Degirmenci P, Tekinalp A, Alpsoy S, Okuturlar Y, Turgut B
Medicine (Baltimore) 2022 Aug 12;101(32):e29881. doi: 10.1097/MD.0000000000029881. PMID: 35960118Free PMC Article
Kristan A, Gašperšič J, Režen T, Kunej T, Količ R, Vuga A, Fink M, Žula Š, Anžej Doma S, Preložnik Zupan I, Pajič T, Podgornik H, Debeljak N
J Clin Lab Anal 2021 Apr;35(4):e23715. Epub 2021 Feb 3 doi: 10.1002/jcla.23715. PMID: 33534944Free PMC Article
Spivak JL, Barosi G, Tognoni G, Barbui T, Finazzi G, Marchioli R, Marchetti M
Hematology Am Soc Hematol Educ Program 2003:200-24. doi: 10.1182/asheducation-2003.1.200. PMID: 14633783
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

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