Molecular coagulation and thrombophilia
(2024) p.201-215- Abstract
In healthy individuals, a delicate balance between pro- and anticoagulant systems ensures efficient hemostasis and an open vascular system. As sites of vascular damage, a series of procoagulant reactions take place, which are carefully controlled by several anticoagulant proteins. Circumstantial and genetic risk factors increase the risk of venous thrombosis. Circumstantial risk factors are usually short in duration, whereas the genetic risk factors are lifelong. The most common genetic risk factor causing thrombophilia is Factor V Leiden (FVL), a point mutation which eliminates one of the cleave sites for the anticoagulant activated protein C (APC), thus causing APC resistance. Other relatively common thrombophilic risk factors include... (More)
In healthy individuals, a delicate balance between pro- and anticoagulant systems ensures efficient hemostasis and an open vascular system. As sites of vascular damage, a series of procoagulant reactions take place, which are carefully controlled by several anticoagulant proteins. Circumstantial and genetic risk factors increase the risk of venous thrombosis. Circumstantial risk factors are usually short in duration, whereas the genetic risk factors are lifelong. The most common genetic risk factor causing thrombophilia is Factor V Leiden (FVL), a point mutation which eliminates one of the cleave sites for the anticoagulant activated protein C (APC), thus causing APC resistance. Other relatively common thrombophilic risk factors include deficiencies of antithrombin, protein C, and protein S. In this review, we will outline the molecular mechanisms of the pro- and anticoagulant pathways and the molecular genetics of thrombophilia, which is a classical example of a multigenetic disease.
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- author
- Dahlbäck, Björn LU and Hillarp, Andreas LU
- organization
- publishing date
- 2024-03-08
- type
- Chapter in Book/Report/Conference proceeding
- publication status
- published
- subject
- keywords
- Antithrombin, APC resistance, Blood coagulation, Factor V, Factor V leiden, Factor Xa, FV-short, Protein C, Protein S, TFPIA, Thrombophilia, Tissue factor pathway inhibitor, Venous thrombosis
- host publication
- Molecular Hematology
- editor
- Provan, D and Lazarus, H
- edition
- 5
- pages
- 201 - 215
- publisher
- Wiley
- external identifiers
-
- scopus:85190233408
- ISBN
- 9781394180455
- 9781394180486
- DOI
- 10.1002/9781394180486.ch15
- language
- English
- LU publication?
- yes
- additional info
- Publisher Copyright: © 2024 John Wiley & Sons Ltd. All rights reserved.
- id
- cd9c5c30-d99c-446f-bca5-d76acf4fa67c
- date added to LUP
- 2024-12-06 10:28:32
- date last changed
- 2025-07-19 05:20:25
@inbook{cd9c5c30-d99c-446f-bca5-d76acf4fa67c, abstract = {{<p>In healthy individuals, a delicate balance between pro- and anticoagulant systems ensures efficient hemostasis and an open vascular system. As sites of vascular damage, a series of procoagulant reactions take place, which are carefully controlled by several anticoagulant proteins. Circumstantial and genetic risk factors increase the risk of venous thrombosis. Circumstantial risk factors are usually short in duration, whereas the genetic risk factors are lifelong. The most common genetic risk factor causing thrombophilia is Factor V Leiden (FVL), a point mutation which eliminates one of the cleave sites for the anticoagulant activated protein C (APC), thus causing APC resistance. Other relatively common thrombophilic risk factors include deficiencies of antithrombin, protein C, and protein S. In this review, we will outline the molecular mechanisms of the pro- and anticoagulant pathways and the molecular genetics of thrombophilia, which is a classical example of a multigenetic disease.</p>}}, author = {{Dahlbäck, Björn and Hillarp, Andreas}}, booktitle = {{Molecular Hematology}}, editor = {{Provan, D and Lazarus, H}}, isbn = {{9781394180455}}, keywords = {{Antithrombin; APC resistance; Blood coagulation; Factor V; Factor V leiden; Factor Xa; FV-short; Protein C; Protein S; TFPIA; Thrombophilia; Tissue factor pathway inhibitor; Venous thrombosis}}, language = {{eng}}, month = {{03}}, pages = {{201--215}}, publisher = {{Wiley}}, title = {{Molecular coagulation and thrombophilia}}, url = {{http://dx.doi.org/10.1002/9781394180486.ch15}}, doi = {{10.1002/9781394180486.ch15}}, year = {{2024}}, }