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Factor X deficiency

MedGen UID:
4635
Concept ID:
C0015519
Disease or Syndrome
Synonym: F10 DEFICIENCY
SNOMED CT: Stuart-Prower factor deficiency (76642003); Factor X deficiency (76642003); Factor 10 deficiency (76642003)
 
Related gene: F10
 
Monarch Initiative: MONDO:0002247
OMIM®: 227600; 613872

Definition

Factor X deficiency is a rare autosomal recessive bleeding disorder showing variable phenotypic severity. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. The disorder can be caused either by reduced levels of the factor X protein or by synthesis of a dysfunctional factor X protein (summary by Millar et al., 2000). [from OMIM]

Additional description

From MedlinePlus Genetics
Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor X deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of the gums, blood in the urine (hematuria), and prolonged or excessive bleeding following surgery or trauma. Women with factor X deficiency can have heavy or prolonged menstrual bleeding (menorrhagia) or excessive bleeding in childbirth, and may be at increased risk of pregnancy loss (miscarriage). Bleeding into joint spaces (hemarthrosis) occasionally occurs. Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening.  https://medlineplus.gov/genetics/condition/factor-x-deficiency

Professional guidelines

PubMed

Menegatti M, Peyvandi F
Semin Thromb Hemost 2025 Mar;51(2):138-144. Epub 2024 Aug 29 doi: 10.1055/s-0044-1789595. PMID: 39209291
Wu X, Miao HL, Zhu TN, Feng J, Zhang L, Mao YY, Zhou DB, Cao XX, Li J
Amyloid 2019 Dec;26(4):255-256. Epub 2019 Sep 17 doi: 10.1080/13506129.2019.1663815. PMID: 31526149
Mahmood S, Blundell J, Drebes A, Hawkins PN, Wechalekar AD
Blood 2014 May 1;123(18):2899-900. doi: 10.1182/blood-2014-02-556514. PMID: 24786460

Recent clinical studies

Etiology

Nicol M, Siguret V, Vergaro G, Aimo A, Emdin M, Dillinger JG, Baudet M, Cohen-Solal A, Villesuzanne C, Harel S, Royer B, Arnulf B, Logeart D
ESC Heart Fail 2022 Feb;9(1):11-20. Epub 2021 Nov 16 doi: 10.1002/ehf2.13701. PMID: 34784656Free PMC Article
Wong SW, Fogaren T
Hematol Oncol Clin North Am 2020 Dec;34(6):1177-1191. doi: 10.1016/j.hoc.2020.08.007. PMID: 33099432
Spiliopoulos D, Kadir RA
Haemophilia 2019 Mar;25(2):195-204. doi: 10.1111/hae.13729. PMID: 30901144
Menegatti M, Peyvandi F
Semin Thromb Hemost 2009 Jun;35(4):407-15. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225763. PMID: 19598069
Uprichard J, Perry DJ
Blood Rev 2002 Jun;16(2):97-110. doi: 10.1054/blre.2002.0191. PMID: 12127953

Diagnosis

Peyvandi F, Auerswald G, Austin SK, Liesner R, Kavakli K, Álvarez Román MT, Millar CM
Blood Rev 2021 Nov;50:100833. Epub 2021 Apr 27 doi: 10.1016/j.blre.2021.100833. PMID: 34024682
Funk DM, Casciato D
Clin Lab Sci 2010 Summer;23(3):131-3. PMID: 20734884
Menegatti M, Peyvandi F
Semin Thromb Hemost 2009 Jun;35(4):407-15. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225763. PMID: 19598069
Uprichard J, Perry DJ
Blood Rev 2002 Jun;16(2):97-110. doi: 10.1054/blre.2002.0191. PMID: 12127953
Zeitler KD, Blatt PM
South Med J 1982 Mar;75(3):306-8, 312. doi: 10.1097/00007611-198203000-00016. PMID: 7038886

Therapy

Menegatti M, Peyvandi F
Semin Thromb Hemost 2025 Mar;51(2):138-144. Epub 2024 Aug 29 doi: 10.1055/s-0044-1789595. PMID: 39209291
Gurlek Gokcebay D, Kacar D, Sahin S, Girolami A, Yarali N, Ozbek NY
J Pediatr Hematol Oncol 2021 Nov 1;43(8):e1248-e1250. doi: 10.1097/MPH.0000000000002180. PMID: 33902062
Jou SC, Chen HC
J Coll Physicians Surg Pak 2018 May;28(5):416. doi: 10.29271/jcpsp.2018.05.416. PMID: 29690981
Menegatti M, Peyvandi F
Semin Thromb Hemost 2009 Jun;35(4):407-15. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225763. PMID: 19598069
Aronson DL
Semin Thromb Hemost 1979;6(1):28-43. doi: 10.1055/s-2007-1005094. PMID: 390713

Prognosis

Nicol M, Siguret V, Vergaro G, Aimo A, Emdin M, Dillinger JG, Baudet M, Cohen-Solal A, Villesuzanne C, Harel S, Royer B, Arnulf B, Logeart D
ESC Heart Fail 2022 Feb;9(1):11-20. Epub 2021 Nov 16 doi: 10.1002/ehf2.13701. PMID: 34784656Free PMC Article
Gurlek Gokcebay D, Kacar D, Sahin S, Girolami A, Yarali N, Ozbek NY
J Pediatr Hematol Oncol 2021 Nov 1;43(8):e1248-e1250. doi: 10.1097/MPH.0000000000002180. PMID: 33902062
Ericson S, Shah N, Liberman J, Aboulafia DM
Clin Lymphoma Myeloma Leuk 2014 Jun;14(3):e81-6. Epub 2013 Nov 27 doi: 10.1016/j.clml.2013.08.007. PMID: 24290671
Lee G, Duan-Porter W, Metjian AD
Haemophilia 2012 Sep;18(5):655-63. doi: 10.1111/j.1365-2516.2012.02773.x. PMID: 23437437
Duflos-Cohade C, Amandruz M, Thibaud E
J Pediatr Adolesc Gynecol 1996 Feb;9(1):16-20. doi: 10.1016/s1083-3188(96)70005-0. PMID: 9551371

Clinical prediction guides

Gao YJ, Shen KN, Chang L, Feng J, Mao YY, Zhang L, Cao XX, Zhou DB, Li J
Leuk Res 2022 Sep;120:106917. Epub 2022 Jul 5 doi: 10.1016/j.leukres.2022.106917. PMID: 35849875
Nicol M, Siguret V, Vergaro G, Aimo A, Emdin M, Dillinger JG, Baudet M, Cohen-Solal A, Villesuzanne C, Harel S, Royer B, Arnulf B, Logeart D
ESC Heart Fail 2022 Feb;9(1):11-20. Epub 2021 Nov 16 doi: 10.1002/ehf2.13701. PMID: 34784656Free PMC Article
Dorgalaleh A, Zaker F, Tabibian S, Alizadeh S, Dorgalele S, Hosseini S, Shamsizadeh M
Blood Coagul Fibrinolysis 2016 Apr;27(3):324-7. doi: 10.1097/MBC.0000000000000435. PMID: 26891460
Goodnough LT, Saito H, Ratnoff OD
Medicine (Baltimore) 1983 Jul;62(4):248-55. doi: 10.1097/00005792-198307000-00004. PMID: 6348471
McPherson RA, Onstad JW, Ugoretz RJ, Wolf PL
Am J Hematol 1977;3:225-35. doi: 10.1002/ajh.2830030303. PMID: 602938

Recent systematic reviews

Spiliopoulos D, Kadir RA
Haemophilia 2019 Mar;25(2):195-204. doi: 10.1111/hae.13729. PMID: 30901144
Kulkarni BP, Nair SB, Vijapurkar M, Mota L, Shanbhag S, Ali S, Shetty SD, Ghosh K
PLoS One 2014;9(9):e108683. Epub 2014 Oct 2 doi: 10.1371/journal.pone.0108683. PMID: 25275492Free PMC Article

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