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Resistance to activated protein C caused by a factor V gene mutation

Zöller, Bengt LU and Dahlbäck, Björn LU (1995) In Current Opinion in Hematology 2(5). p.358-364
Abstract

Each year, approximately one in 1000 individuals suffers from venous thromboembolism. The pathogenesis of the disease is multifactorial and a thrombotic event is the result of a combination of genetic and circumstantial risk factors. Until recently, genetic defects could only be identified in a minority of thrombosis patients. The discovery of inherited resistance to activated protein C as a risk factor for thrombosis changed the situation for the better. In Western countries, activated protein C resistance is found in 20% to 60% of patients with thrombosis. Activated protein C resistance is caused by a single point mutation in the Factor V gene, leading to replacement of Arg(R)506 in the activated protein C cleavage site of Factor V... (More)

Each year, approximately one in 1000 individuals suffers from venous thromboembolism. The pathogenesis of the disease is multifactorial and a thrombotic event is the result of a combination of genetic and circumstantial risk factors. Until recently, genetic defects could only be identified in a minority of thrombosis patients. The discovery of inherited resistance to activated protein C as a risk factor for thrombosis changed the situation for the better. In Western countries, activated protein C resistance is found in 20% to 60% of patients with thrombosis. Activated protein C resistance is caused by a single point mutation in the Factor V gene, leading to replacement of Arg(R)506 in the activated protein C cleavage site of Factor V with a Gln(Q). As a result, the activated protein C-mediated cleavage and inhibition of mutated Factor V (FV:Q506) is impaired, which leads to increased thrombin generation, a hypercoagulable state, and a life-long increased risk of thrombosis.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
anticoagulant agent, blood clotting factor 5, protein C, aged, drug resistance, genetic predisposition, genetics, human, point mutation, review, risk factor, thrombophlebitis
in
Current Opinion in Hematology
volume
2
issue
5
pages
7 pages
external identifiers
  • scopus:0029361437
ISSN
1065-6251
language
English
LU publication?
yes
id
649c2da4-a895-48ae-8534-2e377d7b580c
date added to LUP
2017-10-19 15:26:20
date last changed
2017-11-07 14:21:46
@article{649c2da4-a895-48ae-8534-2e377d7b580c,
  abstract     = {<p>Each year, approximately one in 1000 individuals suffers from venous thromboembolism. The pathogenesis of the disease is multifactorial and a thrombotic event is the result of a combination of genetic and circumstantial risk factors. Until recently, genetic defects could only be identified in a minority of thrombosis patients. The discovery of inherited resistance to activated protein C as a risk factor for thrombosis changed the situation for the better. In Western countries, activated protein C resistance is found in 20% to 60% of patients with thrombosis. Activated protein C resistance is caused by a single point mutation in the Factor V gene, leading to replacement of Arg(R)506 in the activated protein C cleavage site of Factor V with a Gln(Q). As a result, the activated protein C-mediated cleavage and inhibition of mutated Factor V (FV:Q506) is impaired, which leads to increased thrombin generation, a hypercoagulable state, and a life-long increased risk of thrombosis.</p>},
  author       = {Zöller, Bengt and Dahlbäck, Björn},
  issn         = {1065-6251},
  keyword      = {anticoagulant agent,blood clotting factor 5,protein C,aged,drug resistance,genetic predisposition,genetics,human,point mutation,review,risk factor,thrombophlebitis},
  language     = {eng},
  number       = {5},
  pages        = {358--364},
  series       = {Current Opinion in Hematology},
  title        = {Resistance to activated protein C caused by a factor V gene mutation},
  volume       = {2},
  year         = {1995},
}