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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

Li M, Jin Y, Wang M, Ding H
Clin Lab 2019 Dec 1;65(12) doi: 10.7754/Clin.Lab.2019.190710. PMID: 31850724
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

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
Mariani G, Konkle BA, Ingerslev J
Haemophilia 2006 Jan;12(1):19-27. doi: 10.1111/j.1365-2516.2006.01180.x. PMID: 16409171
Poon MC
Curr Opin Hematol 2001 Sep;8(5):312-8. doi: 10.1097/00062752-200109000-00008. PMID: 11604567

Diagnosis

Bronstein Y, Elhadad D, Midlij E, Yana M, Yakubovich D, Sharon N
Isr Med Assoc J 2023 Jun;25(6):402-406. PMID: 37381933
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
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
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
Caldwell DC, Williamson RA, Goldsmith JC
Clin Obstet Gynecol 1985 Mar;28(1):53-72. doi: 10.1097/00003081-198528010-00008. PMID: 3921304

Therapy

Nichols TC, Hough C, Agersø H, Ezban M, Lillicrap D
J Thromb Haemost 2016 May;14(5):894-905. Epub 2016 Apr 5 doi: 10.1111/jth.13301. PMID: 26924758
Wiszniewski A, Szczepanik A, Misiak A, Bykowska K, Szopiński P
Blood Coagul Fibrinolysis 2015 Apr;26(3):324-30. doi: 10.1097/MBC.0000000000000258. PMID: 25688458
Hong I, Stachnik J
Am J Health Syst Pharm 2010 Nov 15;67(22):1909-19. doi: 10.2146/ajhp090667. PMID: 21048207
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
Mariani G, Konkle BA, Ingerslev J
Haemophilia 2006 Jan;12(1):19-27. doi: 10.1111/j.1365-2516.2006.01180.x. PMID: 16409171

Prognosis

Bronstein Y, Elhadad D, Midlij E, Yana M, Yakubovich D, Sharon N
Isr Med Assoc J 2023 Jun;25(6):402-406. PMID: 37381933
Sharma R, Jamwal M, Senee HK, Singh N, Kumar N, Hans C, Kler A, Bansal D, Trehan A, Malhotra P, Ahluwalia J, Das R
Haemophilia 2023 Mar;29(2):591-599. Epub 2022 Dec 26 doi: 10.1111/hae.14730. PMID: 36571800
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

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
Wiszniewski A, Szczepanik A, Misiak A, Bykowska K, Szopiński P
Blood Coagul Fibrinolysis 2015 Apr;26(3):324-30. doi: 10.1097/MBC.0000000000000258. PMID: 25688458
Tran HT, Tjønnfjord GE, Holme PA
Haemophilia 2014 Jan;20(1):141-6. Epub 2013 Aug 28 doi: 10.1111/hae.12256. PMID: 23992369
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
Hong I, Stachnik J
Am J Health Syst Pharm 2010 Nov 15;67(22):1909-19. doi: 10.2146/ajhp090667. PMID: 21048207

Recent systematic reviews

Willems LM, Reif PS, Spyrantis A, Cattani A, Freiman TM, Seifert V, Wagner M, You SJ, Schubert-Bast S, Bauer S, Klein KM, Rosenow F, Strzelczyk A
Epilepsy Behav 2019 Feb;91:30-37. Epub 2018 Jun 13 doi: 10.1016/j.yebeh.2018.05.012. PMID: 29907526
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
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
Mathew P
Thromb Haemost 2004 Oct;92(4):738-46. doi: 10.1160/TH04-03-0163. PMID: 15467904

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