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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 Medicine1989-01-01+01:00 241(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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organization
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Contribution to journal
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published
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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 Medicine1989-01-01+01:00
volume
241
issue
5
pages
7 pages
publisher
Wiley-Blackwell Publishing Ltd
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
2017-11-29 11:57:51
@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},
  keyword      = {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 Publishing Ltd},
  series       = {Journal of Internal Medicine1989-01-01+01:00},
  title        = {The factor VR5O6Q mutation causing APC resistance is highly prevalent amongst unselected outpatients with clinically suspected deep venous thrombosis},
  volume       = {241},
  year         = {1997},
}