A Case Report on an Extremely Rare Disease: Factor XI Deficiency.
factor xi deficiency
ffp
fresh frozen plasma
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
01 Oct 2020
01 Oct 2020
Historique:
entrez:
5
11
2020
pubmed:
6
11
2020
medline:
6
11
2020
Statut:
epublish
Résumé
Factor XI deficiency is a rare condition with an estimated prevalence of about one in one million and is more commonly seen in Ashkenazi Jews (8-9%) due to consanguinity. It occurs because of mutations in the factor XI gene (F11) on chromosome 4(4q35). Patients with this disorder may remain asymptomatic until they undergo any surgical procedure or delivery. The most common sites of bleeding include the oral cavity, pharynx, and genitourinary tract, where there is high fibrinolytic activity. Our patient was asymptomatic his whole life. He never had spontaneous bleeding or bruising; however, he had severe bleeding requiring multiple transfusions of fresh frozen plasma during and after surgeries.
Identifiants
pubmed: 33150098
doi: 10.7759/cureus.10746
pmc: PMC7603878
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e10746Informations de copyright
Copyright © 2020, Mandal et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
Références
Thromb Res. 2018 Mar;163:64-70
pubmed: 29367083
J Clin Apher. 2016 Dec;31(6):579-583
pubmed: 26683249
Indian J Pharmacol. 2014 Sep-Oct;46(5):553-4
pubmed: 25298590
Blood Adv. 2018 May 22;2(10):1076-1088
pubmed: 29760205
Proc Natl Acad Sci U S A. 2007 Jul 31;104(31):12855-60
pubmed: 17652512
Thromb J. 2015 Jan 12;13:1
pubmed: 25937820
Haemophilia. 2015 Jul;21(4):481-9
pubmed: 25817556
Am J Hum Genet. 1999 Apr;64(4):1071-5
pubmed: 10090892
J Foot Ankle Surg. 2018 Nov - Dec;57(6):1242-1245
pubmed: 29891129
SICOT J. 2017;3:11
pubmed: 28186870
Br J Haematol. 2014 Nov;167(3):304-26
pubmed: 25100430
Blood Transfus. 2014 Jul;12(3):446-8
pubmed: 25074526
Haemophilia. 2018 Mar;24(2):e50-e55
pubmed: 29178608
Blood. 2010 Apr 1;115(13):2569-77
pubmed: 20110423
J Thromb Haemost. 2009 Jul;7 Suppl 1:84-7
pubmed: 19630775
Blood. 2017 Jul 27;130(4):e1-e6
pubmed: 28615222
Expert Rev Hematol. 2016 Jul;9(7):629-37
pubmed: 27216469
Anesth Analg. 2009 Jun;108(6):1882-5
pubmed: 19448217