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Factor VII deficiency

MedGen UID:
8769
Concept ID:
C0015503
Disease or Syndrome
Synonyms: F7 deficiency; Factor 7 deficiency; Hypoproconvertinemia
SNOMED CT: F7 - Factor VII deficiency (37193007); Prothrombin conversion accelerator deficiency (37193007); Deficiency of stable factor (37193007); Factor 7 deficiency (37193007); Factor VII deficiency (37193007); Stable factor deficiency (37193007)
 
Monarch Initiative: MONDO:0002244
OMIM®: 227500; 613878

Definition

Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity (summary by Millar et al., 2000). Perry (2002) provided a comprehensive review of factor VII deficiency with a description of F7 polymorphisms, gene structure, and a summary of 120 mutations. [from OMIM]

Additional description

From MedlinePlus Genetics
Factor VII 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 infancy. However, up to one-third of people with factor VII deficiency never have any bleeding problems. Factor VII deficiency commonly causes nosebleeds (epistaxis), bleeding of the gums, easy bruising, and prolonged or excessive bleeding following surgery or physical injury. Bleeding into joint spaces (hemarthrosis) and blood in the urine (hematuria) occasionally occur. Many women with factor VII deficiency have heavy or prolonged menstrual bleeding (menorrhagia). Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage) or in the gastrointestinal tract, which can be life-threatening. Although factor VII deficiency is primarily associated with increased bleeding, some people with the condition have excessive blood clotting (thrombosis).  https://medlineplus.gov/genetics/condition/factor-vii-deficiency

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFactor VII deficiency
Follow this link to review classifications for Factor VII deficiency in Orphanet.

Professional guidelines

PubMed

Qu C, Liu W, Chen L, Zhang L, Xue F, Yang R
Br J Haematol 2023 Feb;200(3):344-352. Epub 2022 Oct 13 doi: 10.1111/bjh.18514. PMID: 36229963
Dorgalaleh A, Alavi SE, Tabibian S, Soori S, Moradi E, Bamedi T, Asadi M, Jalalvand M, Shamsizadeh M
Hematology 2017 May;22(4):224-230. Epub 2016 Nov 28 doi: 10.1080/10245332.2016.1263007. PMID: 27894217
Sevenet PO, Kaczor DA, Depasse F
Clin Appl Thromb Hemost 2017 Oct;23(7):703-710. Epub 2016 Oct 3 doi: 10.1177/1076029616670257. PMID: 27701084

Recent clinical studies

Etiology

Hampshire DJ
Br J Haematol 2023 Aug;202(3):457-458. Epub 2023 Apr 12 doi: 10.1111/bjh.18806. PMID: 37042485
Qu C, Liu W, Chen L, Zhang L, Xue F, Yang R
Br J Haematol 2023 Feb;200(3):344-352. Epub 2022 Oct 13 doi: 10.1111/bjh.18514. PMID: 36229963
Robinson KS
Transfus Apher Sci 2019 Oct;58(5):569-571. Epub 2019 Aug 6 doi: 10.1016/j.transci.2019.08.006. PMID: 31447397
Sevenet PO, Kaczor DA, Depasse F
Clin Appl Thromb Hemost 2017 Oct;23(7):703-710. Epub 2016 Oct 3 doi: 10.1177/1076029616670257. PMID: 27701084
Zaidi SM, Qureshi RN, Adil SN
J Pak Med Assoc 2010 Feb;60(2):136-8. PMID: 20209704

Diagnosis

Sevenet PO, Kaczor DA, Depasse F
Clin Appl Thromb Hemost 2017 Oct;23(7):703-710. Epub 2016 Oct 3 doi: 10.1177/1076029616670257. PMID: 27701084
Mulliez SM, Devreese KM
Acta Clin Belg 2016 Apr;71(2):63-70. Epub 2016 Mar 3 doi: 10.1179/2295333715Y.0000000073. PMID: 26400474
Mariani G, Bernardi F
Semin Thromb Hemost 2009 Jun;35(4):400-6. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225762. PMID: 19598068
Perry DJ
Blood Coagul Fibrinolysis 2003 Jun;14 Suppl 1:S47-54. doi: 10.1097/00001721-200306001-00012. PMID: 14567537
Perry DJ
Br J Haematol 2002 Sep;118(3):689-700. doi: 10.1046/j.1365-2141.2002.03545.x. PMID: 12181036

Therapy

Robinson KS
Transfus Apher Sci 2019 Oct;58(5):569-571. Epub 2019 Aug 6 doi: 10.1016/j.transci.2019.08.006. PMID: 31447397
Mulliez SM, Devreese KM
Acta Clin Belg 2016 Apr;71(2):63-70. Epub 2016 Mar 3 doi: 10.1179/2295333715Y.0000000073. PMID: 26400474
Peyvandi F, Bolton-Maggs PH, Batorova A, De Moerloose P
Haemophilia 2012 Jul;18 Suppl 4:148-53. doi: 10.1111/j.1365-2516.2012.02841.x. PMID: 22726099
Mariani G, Bernardi F
Semin Thromb Hemost 2009 Jun;35(4):400-6. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225762. PMID: 19598068
Perry DJ
Blood Coagul Fibrinolysis 2003 Jun;14 Suppl 1:S47-54. doi: 10.1097/00001721-200306001-00012. PMID: 14567537

Prognosis

Wang A, Su D, Chen Y, Fu Y, Tan X, Luo J, Wang J, Li Y, Chen S
Blood Coagul Fibrinolysis 2022 Dec 1;33(8):468-472. Epub 2022 Jul 22 doi: 10.1097/MBC.0000000000001145. PMID: 35867939
Abu-Quider A, Asleh M, Fruchtman Y, Ben-Harosh M, Beck G, Abuhasira R, Kapelushnik J
J Pediatr Hematol Oncol 2021 Mar 1;43(2):e268-e271. doi: 10.1097/MPH.0000000000001854. PMID: 32520845
Sevenet PO, Kaczor DA, Depasse F
Clin Appl Thromb Hemost 2017 Oct;23(7):703-710. Epub 2016 Oct 3 doi: 10.1177/1076029616670257. PMID: 27701084
Mulliez SM, Devreese KM
Acta Clin Belg 2016 Apr;71(2):63-70. Epub 2016 Mar 3 doi: 10.1179/2295333715Y.0000000073. PMID: 26400474
Peyvandi F, Bolton-Maggs PH, Batorova A, De Moerloose P
Haemophilia 2012 Jul;18 Suppl 4:148-53. doi: 10.1111/j.1365-2516.2012.02841.x. PMID: 22726099

Clinical prediction guides

Wang A, Su D, Chen Y, Fu Y, Tan X, Luo J, Wang J, Li Y, Chen S
Blood Coagul Fibrinolysis 2022 Dec 1;33(8):468-472. Epub 2022 Jul 22 doi: 10.1097/MBC.0000000000001145. PMID: 35867939
Ouardani C, Elmahmoudi H, ELborgi W, Gharbi M, Meriem A, Gouider E
Blood Coagul Fibrinolysis 2022 Jul 1;33(5):280-284. Epub 2022 Jun 27 doi: 10.1097/MBC.0000000000001139. PMID: 35802509
Bernardi F, Mariani G
Haematologica 2021 Feb 1;106(2):351-362. doi: 10.3324/haematol.2020.248542. [Epub ahead of print] PMID: 33406812Free PMC Article
Sevenet PO, Kaczor DA, Depasse F
Clin Appl Thromb Hemost 2017 Oct;23(7):703-710. Epub 2016 Oct 3 doi: 10.1177/1076029616670257. PMID: 27701084
Peyvandi F, Bolton-Maggs PH, Batorova A, De Moerloose P
Haemophilia 2012 Jul;18 Suppl 4:148-53. doi: 10.1111/j.1365-2516.2012.02841.x. PMID: 22726099

Recent systematic reviews

Abdul-Kadir R, Gomez K
J Thromb Haemost 2022 Dec;20(12):2758-2772. doi: 10.1111/jth.15872. PMID: 36073900Free PMC Article
Di Minno MND, Ambrosino P, Myasoedova V, Amato M, Ventre I, Tremoli E, Minno AD
Curr Pharm Des 2017;23(7):1125-1131. doi: 10.2174/1381612822666161230143612. PMID: 28034354
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
Baumann Kreuziger LM, Morton CT, Reding MT
Haemophilia 2013 Nov;19(6):827-32. Epub 2013 Apr 22 doi: 10.1111/hae.12167. PMID: 23607277Free PMC Article
Simpson E, Lin Y, Stanworth S, Birchall J, Doree C, Hyde C
Cochrane Database Syst Rev 2012 Mar 14;(3):CD005011. doi: 10.1002/14651858.CD005011.pub4. PMID: 22419303

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