title: Factor V:Q506 mutation and anticardiolipin antibodies in systemic lupus erythematosus.
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 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.
authors.affiliation: Department of Rheumatology, Lund University Hospital, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Bengtsson
authors.forename: B
authors.initials: B
authors.lastname: Zöller
authors.forename: P G
authors.initials: PG
authors.lastname: de Frutos
authors.forename: B
authors.initials: B
authors.lastname: Dahlbäck
authors.forename: G
authors.initials: G
authors.lastname: Sturfelt
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D017153:Antibodies, Anticardiolipin / Q000097:blood*; D002648:Child; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000097:blood / Q000150:complications / Q000235:genetics / Q000276:immunology; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D013927:Thrombosis / Q000209:etiology*
chemical_list: D017153:Antibodies, Anticardiolipin; D005165:Factor V