The factor VR5O6Q mutation causing APC resistance is highly prevalent amongst unselected outpatients with clinically suspected deep venous thrombosis
Svensson, P.J. LU ; Zöller, B. LU
; Mattiasson, I.
LU
and Dahlbäck, B.
LU
(1997)
In Journal of Internal Medicine
241(5).
p.379-385
- Abstract
- Objective. Resistance to activated protein C (APC resistance), caused by a single point mutation in the factor V gene (FV:R506Q), is a major risk factor for venous thrombosis. As the significance of this mutation among unselected outpatients with deep-vein thrombosis (DVT) is not established, we have studied its prevalence among consecutive outpatients attending the emergency room due to a clinically suspected DVT. Design, setting and subjects. The FV:R506Q mutation was determined in 223 consecutive Swedish outpatients with clinically suspected DVT, and in 288 healthy controls. Using phlebography, the patients were classified as DVT-positive or DVT-negative. Main outcome measure. The prevalence of FV: R506Q mutation. Results. The... (More)
- Objective. Resistance to activated protein C (APC resistance), caused by a single point mutation in the factor V gene (FV:R506Q), is a major risk factor for venous thrombosis. As the significance of this mutation among unselected outpatients with deep-vein thrombosis (DVT) is not established, we have studied its prevalence among consecutive outpatients attending the emergency room due to a clinically suspected DVT. Design, setting and subjects. The FV:R506Q mutation was determined in 223 consecutive Swedish outpatients with clinically suspected DVT, and in 288 healthy controls. Using phlebography, the patients were classified as DVT-positive or DVT-negative. Main outcome measure. The prevalence of FV: R506Q mutation. Results. The prevalence of the FV:R506Q mutation was 28% (28/99) in the DVT-positive subgroup (relative risk: 3.1; 95% CI: 1.7 5.5), and 23% (28/124) in the DVT negative subgroup (relative risk: 2.0; 95% CI: 1.1-3.6), as compared to 11% (32/288) in the control group. In the DVT-positive subgroup, the FV:R506Q mutation was most common among younger patients with primary thrombosis (47%) and least common among older patients with secondary thrombosis (19%). The high prevalence of FV:R506Q mutation among DVT-negative patients was associated with a high frequency of previous venous thrombosis. Thus, 46% (13/28) of the DVT-negative FV:R506Q carriers had a history of thrombosis, compared with only 22% (21/96) of the DVT-negative patients lacking the mutation (P = 0.01). Conclusion. To sum up, the FV:R506Q mutation is present in more than a quarter of Swedish DVT-positive outpatients with clinically suspected DVT, indicating that APC-resistance is a major thrombotic risk factor contributing to the high incidence of venous thrombosis in Sweden. (Less)
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https://lup.lub.lu.se/record/058358ec-d098-4126-9833-5e2eb163ad63
- author
- Svensson, P.J.
LU
; Zöller, B.
LU
; Mattiasson, I.
LU
and Dahlbäck, B.
LU
- organization
- publishing date
- 1997-11-07
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- APC resistance, factor V, mutation, protein C, thrombosis, activated protein C, adult, aged, article, controlled study, deep vein thrombosis, female, human, hypercoagulability, major clinical study, male, phlebography, point mutation, priority journal, risk factor, Sweden
- in
- Journal of Internal Medicine
- volume
- 241
- issue
- 5
- pages
- 7 pages
- publisher
- Wiley-Blackwell
- ISSN
- 1365-2796
- language
- English
- LU publication?
- yes
- id
- 058358ec-d098-4126-9833-5e2eb163ad63
- date added to LUP
- 2017-11-07 11:24:58
- date last changed
- 2021-08-04 04:09:00
@article{058358ec-d098-4126-9833-5e2eb163ad63,
abstract = {{Objective. Resistance to activated protein C (APC resistance), caused by a single point mutation in the factor V gene (FV:R506Q), is a major risk factor for venous thrombosis. As the significance of this mutation among unselected outpatients with deep-vein thrombosis (DVT) is not established, we have studied its prevalence among consecutive outpatients attending the emergency room due to a clinically suspected DVT. Design, setting and subjects. The FV:R506Q mutation was determined in 223 consecutive Swedish outpatients with clinically suspected DVT, and in 288 healthy controls. Using phlebography, the patients were classified as DVT-positive or DVT-negative. Main outcome measure. The prevalence of FV: R506Q mutation. Results. The prevalence of the FV:R506Q mutation was 28% (28/99) in the DVT-positive subgroup (relative risk: 3.1; 95% CI: 1.7 5.5), and 23% (28/124) in the DVT negative subgroup (relative risk: 2.0; 95% CI: 1.1-3.6), as compared to 11% (32/288) in the control group. In the DVT-positive subgroup, the FV:R506Q mutation was most common among younger patients with primary thrombosis (47%) and least common among older patients with secondary thrombosis (19%). The high prevalence of FV:R506Q mutation among DVT-negative patients was associated with a high frequency of previous venous thrombosis. Thus, 46% (13/28) of the DVT-negative FV:R506Q carriers had a history of thrombosis, compared with only 22% (21/96) of the DVT-negative patients lacking the mutation (P = 0.01). Conclusion. To sum up, the FV:R506Q mutation is present in more than a quarter of Swedish DVT-positive outpatients with clinically suspected DVT, indicating that APC-resistance is a major thrombotic risk factor contributing to the high incidence of venous thrombosis in Sweden.}},
author = {{Svensson, P.J. and Zöller, B. and Mattiasson, I. and Dahlbäck, B.}},
issn = {{1365-2796}},
keywords = {{APC resistance; factor V; mutation; protein C; thrombosis; activated protein C; adult; aged; article; controlled study; deep vein thrombosis; female; human; hypercoagulability; major clinical study; male; phlebography; point mutation; priority journal; risk factor; Sweden}},
language = {{eng}},
month = {{11}},
number = {{5}},
pages = {{379--385}},
publisher = {{Wiley-Blackwell}},
series = {{Journal of Internal Medicine}},
title = {{The factor VR5O6Q mutation causing APC resistance is highly prevalent amongst unselected outpatients with clinically suspected deep venous thrombosis}},
volume = {{241}},
year = {{1997}},
}