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

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 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.

journal_name

Curr Opin Hematol

authors

Zöller B,Dahlbäck B

doi

10.1097/00062752-199502050-00006

subject

Has Abstract

pub_date

1995-09-01 00:00:00

pages

358-64

issue

5

eissn

1065-6251

issn

1531-7048

journal_volume

2

pub_type

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