Owren's Disease: A Rare Deficiency.
blood coagulation disorder
clotting factors
congenital disorders
haematology
leiden
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Aug 2021
Aug 2021
Historique:
accepted:
10
08
2021
entrez:
15
9
2021
pubmed:
16
9
2021
medline:
16
9
2021
Statut:
epublish
Résumé
Factor V deficiency is a rare bleeding disorder, which may be due to acquired inhibitors or biallelic mutations. Factor V deficiency due to homozygous or compound heterozygous mutation (also known as Owren's disease or parahemophilia) has an estimated prevalence of one in one million people. A 22-year-old female was admitted for evaluation of longstanding menorrhagia. Anatomic abnormalities were excluded, and prolonged prothrombin time (PT) and partial thromboplastin time (PTT) were identified. Mixing studies followed by specific factor assays and genetic testing enable identification of factor V deficiency, for which fresh frozen plasma (FFP) or factor V concentrates are therapeutic. Specific clotting factor assay followed by mixing studies and genetic studies is essential for the diagnosis of congenital factor V deficiency. Deranged PT and activated partial thromboplastin time (APTT) with normal factor I level must be evaluated for the disorder of clotting factors and must be managed by FFP administration or plasma-derived factor V concentrate wherever available.
Identifiants
pubmed: 34522525
doi: 10.7759/cureus.17047
pmc: PMC8427937
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e17047Informations de copyright
Copyright © 2021, Ehtisham et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
Références
Semin Thromb Hemost. 2019 Jul;45(5):523-543
pubmed: 31121608
Pan Afr Med J. 2017 Jul 06;27:182
pubmed: 28904709
Rinsho Ketsueki. 2020;61(7):791-798
pubmed: 32759567
Thromb Haemost. 1999 Sep;82(3):1097-9
pubmed: 10494770
Ann Pharmacother. 2010 Oct;44(10):1673-6
pubmed: 20807866
Clin Gastroenterol Hepatol. 2013 Sep;11(9):1064-74
pubmed: 23506859
BMC Hematol. 2017 Apr 24;17:8
pubmed: 28451435
JAMA Pediatr. 2020 Feb 1;174(2):186-194
pubmed: 31886837
Blood Coagul Fibrinolysis. 2017 Jun;28(4):334-341
pubmed: 27428013
Transfus Apher Sci. 2018 Dec;57(6):705-712
pubmed: 30392819
Blood Res. 2020 Sep 30;55(3):146-150
pubmed: 32883892
J Korean Med Sci. 2016 Feb;31(2):208-13
pubmed: 26839474
Clin Lab. 2019 Oct 1;65(10):
pubmed: 31625361
Transfus Med Hemother. 2017 Apr;44(2):114-117
pubmed: 28503128