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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

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
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
Tarantino MD
Haemophilia 2021 Jul;27(4):531-543. Epub 2021 May 22 doi: 10.1111/hae.14223. PMID: 34021672Free PMC Article

Recent clinical studies

Etiology

Ichinose A, Osaki T, Souri M
Thromb Haemost 2022 Mar;122(3):320-328. Epub 2021 Jun 15 doi: 10.1055/a-1496-8527. [Epub ahead of print] PMID: 33930902
Tarantino MD
Haemophilia 2021 Jul;27(4):531-543. Epub 2021 May 22 doi: 10.1111/hae.14223. PMID: 34021672Free 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
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
Girolami A, Cosi E, Santarossa C, Ferrari S, Girolami B, Lombardi AM
Clin Appl Thromb Hemost 2018 Jan;24(1):33-40. Epub 2016 Dec 29 doi: 10.1177/1076029616686423. PMID: 28030967Free PMC Article
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

Therapy

Payne J, Batsuli G, Leavitt AD, Mathias M, McGuinn CE
Haemophilia 2022 Jul;28(4):523-531. Epub 2022 May 2 doi: 10.1111/hae.14570. PMID: 35499465Free PMC Article
Ferreira CI, Costa F, Arantes AR, Horta G, Soares E, Félix F
Braz J Anesthesiol 2022 Nov-Dec;72(6):816-818. Epub 2021 Nov 17 doi: 10.1016/j.bjane.2021.08.024. PMID: 34800494Free PMC Article
Peyvandi F, Garagiola I, Biguzzi E
J Thromb Haemost 2016 Nov;14(11):2095-2106. Epub 2016 Oct 19 doi: 10.1111/jth.13491. PMID: 27590165
Nance D, Josephson NC, Paulyson-Nunez K, James AH
Haemophilia 2012 May;18(3):e277-85. Epub 2011 Dec 12 doi: 10.1111/j.1365-2516.2011.02724.x. PMID: 22151249
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

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
Krkovic M, Koosova Gajic A, Tarčuković J, Sotosek V, Stimac T, Balen S, Dangubic B, Grubjesic I
Am J Case Rep 2020 Mar 18;21:e920685. doi: 10.12659/AJCR.920685. PMID: 32184380Free PMC Article
Patel G, Hari P, Szabo A, Rein L, Kreuziger LB, Chhabra S, Dhakal B, D'Souza A
Hematol Oncol Stem Cell Ther 2019 Mar;12(1):10-14. Epub 2018 Jun 28 doi: 10.1016/j.hemonc.2018.05.002. PMID: 30879471
Pavlova A, Preisler B, Driesen J, de Moerloose P, Zieger B, Hütker S, Dengler K, Harbrecht U, Oldenburg J
Haemophilia 2015 May;21(3):386-391. Epub 2015 Jan 13 doi: 10.1111/hae.12604. PMID: 25582404
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
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
Karabel M, Söker M, Yıldırım AT, Oymak Y, Kelekçi S, Karabel D
Pediatr Hematol Oncol 2013 Nov;30(8):717-22. Epub 2013 Apr 5 doi: 10.3109/08880018.2013.782380. PMID: 23560890

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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