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Advances in understanding mechanisms of thrombophilic disorders

Dahlback, Björn LU (2020) In Hämostaseologie 40(1). p.12-21
Abstract

Venous thromboembolism constitutes a major medical problem afflicting millions of individuals worldwide each year. Its pathogenesis is multifactorial, involving both environmental and genetic risk factors. The most common genetic risk factor known to date is a mutation in the factor V (FV) gene (R506Q or FV Leiden), which impairs the normal regulation of FV by activated protein C (APC). APC is an important regulator of blood coagulation, cleaving and inactivating not only FV/FVa but also activated factor VIII (FVIIIa). In FVa, APC cleaves several sites, Arg506 (R506) being one of them. The R506Q mutation results in the APC resistance phenotype and a lifelong hypercoagulable state. A prothrombin gene mutation is another relatively... (More)

Venous thromboembolism constitutes a major medical problem afflicting millions of individuals worldwide each year. Its pathogenesis is multifactorial, involving both environmental and genetic risk factors. The most common genetic risk factor known to date is a mutation in the factor V (FV) gene (R506Q or FV Leiden), which impairs the normal regulation of FV by activated protein C (APC). APC is an important regulator of blood coagulation, cleaving and inactivating not only FV/FVa but also activated factor VIII (FVIIIa). In FVa, APC cleaves several sites, Arg506 (R506) being one of them. The R506Q mutation results in the APC resistance phenotype and a lifelong hypercoagulable state. A prothrombin gene mutation is another relatively frequent thrombosis risk factor, whereas deficiencies of the anticoagulant proteins antithrombin, protein C, or protein S are less common. As a result of the high prevalence of FV and prothrombin mutations in the general population, combinations of genetic defects are relatively common. Such individuals have highly increased risk of thrombosis.

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Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
APC resistance, FV Leiden, TFPI
in
Hämostaseologie
volume
40
issue
1
pages
10 pages
publisher
Schattauer GmbH
external identifiers
  • scopus:85079346247
  • pmid:31994161
ISSN
0720-9355
DOI
10.1055/s-0040-1701612
language
English
LU publication?
yes
id
ec83af6b-e3b6-4540-bd34-b996c6b93f66
date added to LUP
2021-01-13 11:32:18
date last changed
2024-05-02 01:24:37
@article{ec83af6b-e3b6-4540-bd34-b996c6b93f66,
  abstract     = {{<p>Venous thromboembolism constitutes a major medical problem afflicting millions of individuals worldwide each year. Its pathogenesis is multifactorial, involving both environmental and genetic risk factors. The most common genetic risk factor known to date is a mutation in the factor V (FV) gene (R506Q or FV Leiden), which impairs the normal regulation of FV by activated protein C (APC). APC is an important regulator of blood coagulation, cleaving and inactivating not only FV/FVa but also activated factor VIII (FVIIIa). In FVa, APC cleaves several sites, Arg506 (R506) being one of them. The R506Q mutation results in the APC resistance phenotype and a lifelong hypercoagulable state. A prothrombin gene mutation is another relatively frequent thrombosis risk factor, whereas deficiencies of the anticoagulant proteins antithrombin, protein C, or protein S are less common. As a result of the high prevalence of FV and prothrombin mutations in the general population, combinations of genetic defects are relatively common. Such individuals have highly increased risk of thrombosis.</p>}},
  author       = {{Dahlback, Björn}},
  issn         = {{0720-9355}},
  keywords     = {{APC resistance; FV Leiden; TFPI}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{12--21}},
  publisher    = {{Schattauer GmbH}},
  series       = {{Hämostaseologie}},
  title        = {{Advances in understanding mechanisms of thrombophilic disorders}},
  url          = {{http://dx.doi.org/10.1055/s-0040-1701612}},
  doi          = {{10.1055/s-0040-1701612}},
  volume       = {{40}},
  year         = {{2020}},
}