Elevated levels of prothrombin activation fragment 1 + 2 in plasma from patients with heterozygous Arg506 to Gln mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency
(1996) In Thrombosis and Haemostasis 75(2). p.270-274- Abstract
Inherited resistance to activated protein C (APC-resistance), caused by a point mutation in the factor V gene leading to replacement of Arg(R)506 with a Gln (Q), and inherited protein S deficiency are associated with functional impairment of the protein C anticoagulant system, yielding lifelong hypercoagulability and increased risk of thrombosis. APC-resistance is often an additional genetic risk factor in thrombosis-prone protein S deficient families. The plasma concentration of prothrombin fragment 1 + 2 (F1 + 2), which is a marker of hypercoagulable states, was measured in 205 members of 34 thrombosis-prone families harbouring the Arg506 to Gln mutation (APC-resistance) and/or inherited protein S deficiency. The plasma concentration... (More)
Inherited resistance to activated protein C (APC-resistance), caused by a point mutation in the factor V gene leading to replacement of Arg(R)506 with a Gln (Q), and inherited protein S deficiency are associated with functional impairment of the protein C anticoagulant system, yielding lifelong hypercoagulability and increased risk of thrombosis. APC-resistance is often an additional genetic risk factor in thrombosis-prone protein S deficient families. The plasma concentration of prothrombin fragment 1 + 2 (F1 + 2), which is a marker of hypercoagulable states, was measured in 205 members of 34 thrombosis-prone families harbouring the Arg506 to Gln mutation (APC-resistance) and/or inherited protein S deficiency. The plasma concentration of F1 + 2 was significantly higher both in 38 individuals carrying the FV:Q506 mutation in heterozygous state (1.7 +/- 0.7 nM; mean +/- SD) and in 48 protein S deficient cases (1.9 +/- 0.9 nm), than in 100 unaffected relatives (1.3 +/- 0.5 nM). Warfarin therapy decreased the F1 + 2 levels, even in those four patients who had combined defects (0.5 +/- 0.3 nM). Our results agree with the hypothesis that individuals with APC-resistance or protein S deficiency have an imbalance between pro- and anti-coagulant forces leading to increased thrombin generation and a hypercoagulable state.
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- author
- Zöller, Bengt LU ; Holm, Johan LU ; Svensson, Peter LU and Dahlbäck, B LU
- organization
- publishing date
- 1996-02
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Adolescent, Adult, Aged, Aged, 80 and over, Biomarkers, Child, Disease Susceptibility, Factor V, Factor V Deficiency, Female, Humans, Male, Middle Aged, Peptide Fragments, Point Mutation, Protein S Deficiency, Prothrombin, Thromboembolism, Warfarin, Journal Article, Research Support, Non-U.S. Gov't
- in
- Thrombosis and Haemostasis
- volume
- 75
- issue
- 2
- pages
- 5 pages
- publisher
- Schattauer GmbH
- external identifiers
-
- pmid:8815575
- scopus:0029878085
- ISSN
- 0340-6245
- language
- English
- LU publication?
- yes
- id
- 454ba16d-3c2c-4ab3-bcd3-7dcd50753c9d
- date added to LUP
- 2017-10-19 15:29:55
- date last changed
- 2024-11-25 19:38:58
@article{454ba16d-3c2c-4ab3-bcd3-7dcd50753c9d, abstract = {{<p>Inherited resistance to activated protein C (APC-resistance), caused by a point mutation in the factor V gene leading to replacement of Arg(R)506 with a Gln (Q), and inherited protein S deficiency are associated with functional impairment of the protein C anticoagulant system, yielding lifelong hypercoagulability and increased risk of thrombosis. APC-resistance is often an additional genetic risk factor in thrombosis-prone protein S deficient families. The plasma concentration of prothrombin fragment 1 + 2 (F1 + 2), which is a marker of hypercoagulable states, was measured in 205 members of 34 thrombosis-prone families harbouring the Arg506 to Gln mutation (APC-resistance) and/or inherited protein S deficiency. The plasma concentration of F1 + 2 was significantly higher both in 38 individuals carrying the FV:Q506 mutation in heterozygous state (1.7 +/- 0.7 nM; mean +/- SD) and in 48 protein S deficient cases (1.9 +/- 0.9 nm), than in 100 unaffected relatives (1.3 +/- 0.5 nM). Warfarin therapy decreased the F1 + 2 levels, even in those four patients who had combined defects (0.5 +/- 0.3 nM). Our results agree with the hypothesis that individuals with APC-resistance or protein S deficiency have an imbalance between pro- and anti-coagulant forces leading to increased thrombin generation and a hypercoagulable state.</p>}}, author = {{Zöller, Bengt and Holm, Johan and Svensson, Peter and Dahlbäck, B}}, issn = {{0340-6245}}, keywords = {{Adolescent; Adult; Aged; Aged, 80 and over; Biomarkers; Child; Disease Susceptibility; Factor V; Factor V Deficiency; Female; Humans; Male; Middle Aged; Peptide Fragments; Point Mutation; Protein S Deficiency; Prothrombin; Thromboembolism; Warfarin; Journal Article; Research Support, Non-U.S. Gov't}}, language = {{eng}}, number = {{2}}, pages = {{270--274}}, publisher = {{Schattauer GmbH}}, series = {{Thrombosis and Haemostasis}}, title = {{Elevated levels of prothrombin activation fragment 1 + 2 in plasma from patients with heterozygous Arg506 to Gln mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency}}, volume = {{75}}, year = {{1996}}, }