Advances in understanding mechanisms of thrombophilic disorders
(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.
(Less)
- author
- Dahlback, Björn LU
- organization
- publishing date
- 2020
- 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
-
- pmid:31994161
- scopus:85079346247
- 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
- 2024-09-19 14:34:43
@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}}, }