The factor VR506Q mutation causing APC resistance is highly prevalent amongst unselected outpatients with clinically suspected deep venous thrombosis
(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... (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.
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- author
- Svensson, Peter LU ; Zöller, Bengt LU ; Mattiasson, Ingrid LU and Dahlbäck, Björn LU
- organization
- publishing date
- 1997-05
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Adult, Aged, Aged, 80 and over, Case-Control Studies, Factor V, Factor Va, Female, Heterozygote Detection, Humans, Male, Middle Aged, Outpatients, Phlebography, Point Mutation, Prevalence, Protein C, Thrombophlebitis, Journal Article, Research Support, Non-U.S. Gov't
- in
- Journal of Internal Medicine
- volume
- 241
- issue
- 5
- pages
- 7 pages
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:9183305
- scopus:0030609926
- ISSN
- 0954-6820
- language
- English
- LU publication?
- yes
- id
- 5aa3924e-4490-499b-bb5a-0d1c905f4e0d
- date added to LUP
- 2017-10-19 16:32:25
- date last changed
- 2024-01-14 08:04:13
@article{5aa3924e-4490-499b-bb5a-0d1c905f4e0d, abstract = {{<p>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.</p><p>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.</p><p>MAIN OUTCOME MEASURE: The prevalence of FV:R506Q mutation.</p><p>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).</p><p>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.</p>}}, author = {{Svensson, Peter and Zöller, Bengt and Mattiasson, Ingrid and Dahlbäck, Björn}}, issn = {{0954-6820}}, keywords = {{Adult; Aged; Aged, 80 and over; Case-Control Studies; Factor V; Factor Va; Female; Heterozygote Detection; Humans; Male; Middle Aged; Outpatients; Phlebography; Point Mutation; Prevalence; Protein C; Thrombophlebitis; Journal Article; Research Support, Non-U.S. Gov't}}, language = {{eng}}, number = {{5}}, pages = {{379--385}}, publisher = {{Wiley-Blackwell}}, series = {{Journal of Internal Medicine}}, title = {{The factor VR506Q mutation causing APC resistance is highly prevalent amongst unselected outpatients with clinically suspected deep venous thrombosis}}, volume = {{241}}, year = {{1997}}, }