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Factor V:Q506 mutation and anticardiolipin antibodies in systemic lupus erythematosus

Bengtsson, A ; Zöller, Bengt LU orcid ; Garcia de Frutos, Pablo LU ; Dahlbäck, Björn LU and Sturfelt, Gunnar LU (1996) In Lupus 5(6). p.598-601
Abstract

Inherited resistance to activated protein C (APC resistance) is an important risk factor of venous thrombosis. It is caused by a point mutation in the gene coding for coagulation factor V, called FV:Q506. Arterio-venous thrombosis is a common and serious medical problem in patients with systemic lupus erythematosus (SLE). We studied the prevalence of the factor V mutation associated with APC resistance and IgG anticardiolipin antibodies (aCLs) in an epidemiological cohort of 78 Swedish SLE patients, to determine their roles as risk factors for thrombosis. In addition, a detailed evaluation of the clinical manifestations in these patients was performed. Totally, 19 (24%) of the 78 SLE patients had thrombosis, 11 (14%) had venous... (More)

Inherited resistance to activated protein C (APC resistance) is an important risk factor of venous thrombosis. It is caused by a point mutation in the gene coding for coagulation factor V, called FV:Q506. Arterio-venous thrombosis is a common and serious medical problem in patients with systemic lupus erythematosus (SLE). We studied the prevalence of the factor V mutation associated with APC resistance and IgG anticardiolipin antibodies (aCLs) in an epidemiological cohort of 78 Swedish SLE patients, to determine their roles as risk factors for thrombosis. In addition, a detailed evaluation of the clinical manifestations in these patients was performed. Totally, 19 (24%) of the 78 SLE patients had thrombosis, 11 (14%) had venous thrombosis and 8 (10%) had a cerebral infarction caused by occlusion of cerebral vessels. Twenty-six (33%) SLE patients were aCL positive and 8 (10%) were heterozygous for the factor V mutation. Only one of the patients with venous thrombosis and one of the patients with cerebral thrombosis had the FV:Q506 mutation, whereas 3 patients with venous thrombosis and 5 patients with cerebral infarction were aCL positive. Eleven of 19 patients with heart valve disease were aCL positive, a statistically significant association (P = 0.01). In conclusion, we found no statistically significant association between venous thrombosis and FV:Q506 mutation or venous thrombosis and aCL positivity. There was, however, an association between heart valve disease and aCL positivity.

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Contribution to journal
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published
subject
keywords
Adolescent, Adult, Aged, Aged, 80 and over, Antibodies, Anticardiolipin, Child, Factor V, Female, Humans, Lupus Erythematosus, Systemic, Male, Middle Aged, Point Mutation, Thrombosis, Journal Article, Research Support, Non-U.S. Gov't
in
Lupus
volume
5
issue
6
pages
4 pages
publisher
SAGE Publications
external identifiers
  • scopus:0030300003
  • pmid:9116703
ISSN
0961-2033
DOI
10.1177/096120339600500607
language
English
LU publication?
yes
id
c25cfbae-1015-4073-9758-64ec2d3d318c
date added to LUP
2017-10-19 16:38:22
date last changed
2024-01-14 08:06:04
@article{c25cfbae-1015-4073-9758-64ec2d3d318c,
  abstract     = {{<p>Inherited resistance to activated protein C (APC resistance) is an important risk factor of venous thrombosis. It is caused by a point mutation in the gene coding for coagulation factor V, called FV:Q506. Arterio-venous thrombosis is a common and serious medical problem in patients with systemic lupus erythematosus (SLE). We studied the prevalence of the factor V mutation associated with APC resistance and IgG anticardiolipin antibodies (aCLs) in an epidemiological cohort of 78 Swedish SLE patients, to determine their roles as risk factors for thrombosis. In addition, a detailed evaluation of the clinical manifestations in these patients was performed. Totally, 19 (24%) of the 78 SLE patients had thrombosis, 11 (14%) had venous thrombosis and 8 (10%) had a cerebral infarction caused by occlusion of cerebral vessels. Twenty-six (33%) SLE patients were aCL positive and 8 (10%) were heterozygous for the factor V mutation. Only one of the patients with venous thrombosis and one of the patients with cerebral thrombosis had the FV:Q506 mutation, whereas 3 patients with venous thrombosis and 5 patients with cerebral infarction were aCL positive. Eleven of 19 patients with heart valve disease were aCL positive, a statistically significant association (P = 0.01). In conclusion, we found no statistically significant association between venous thrombosis and FV:Q506 mutation or venous thrombosis and aCL positivity. There was, however, an association between heart valve disease and aCL positivity.</p>}},
  author       = {{Bengtsson, A and Zöller, Bengt and Garcia de Frutos, Pablo and Dahlbäck, Björn and Sturfelt, Gunnar}},
  issn         = {{0961-2033}},
  keywords     = {{Adolescent; Adult; Aged; Aged, 80 and over; Antibodies, Anticardiolipin; Child; Factor V; Female; Humans; Lupus Erythematosus, Systemic; Male; Middle Aged; Point Mutation; Thrombosis; Journal Article; Research Support, Non-U.S. Gov't}},
  language     = {{eng}},
  number       = {{6}},
  pages        = {{598--601}},
  publisher    = {{SAGE Publications}},
  series       = {{Lupus}},
  title        = {{Factor V:Q506 mutation and anticardiolipin antibodies in systemic lupus erythematosus}},
  url          = {{http://dx.doi.org/10.1177/096120339600500607}},
  doi          = {{10.1177/096120339600500607}},
  volume       = {{5}},
  year         = {{1996}},
}