title: Survey of factor V leiden and prothrombin gene mutations in systemic lupus erythematosus.
abstract: The two most common hereditary risk factors for thrombosis are factor V Leiden mutation and a prothrombin gene mutation. There is indeed a thrombotic tendency in patients with systemic lupus erythematosis (SLE) and it is not always associated with antiphospholipid antibodies. We aimed to determine the relationship between both factor V Leiden and prothrombin gene mutations and SLE. Using polymerase chain reaction (PCR) the factor V Leiden and prothrombin gene mutations were evaluated in 55 patients (20 children and 35 adults) with SLE. Although seven patients were found to have factor V Leiden mutation in the heterozygous state, two had the heterozygous G-->A (20210) prothrombin gene mutation. Although one had these two mutations concurrently, these two patients did not have thrombosis. The factor V Leiden mutation frequency (12.7%) was higher than that of our general population (7.1%). On the other hand, seven of the patients with SLE had a thrombotic event. Although of these seven, four (57%) had factor V Leiden mutation, three (43%) had no mutation. Of 48 patients with no thrombotic history, only three had the factor V mutation (6.25%). The prevalence of the factor V Leiden mutation in SLE patients with and without thrombosis was significantly different by Fisher's exact test (p<0.05). The risk of venous thrombosis in patients with factor V Leiden increased threefold compared to that in those without factor V Leiden mutation (odds ratio 20.1; CI 2.99-133.6). Although factor V Leiden mutation seems to play a role in the development of venous thrombosis in SLE, the development of thrombosis in SLE is multifactorial.
authors.affiliation: Hacettepe University School of Medicine, Department of Pediatric Nephrology and Rheumatology, Ankara, Turkey. rtopalog@gen.hun.edu.tr
authors.forename: R
authors.initials: R
authors.lastname: Topaloglu
authors.forename: C
authors.initials: C
authors.lastname: Akierli
authors.forename: A
authors.initials: A
authors.lastname: Bakkaloglu
authors.forename: O
authors.initials: O
authors.lastname: Aydintug
authors.forename: S
authors.initials: S
authors.lastname: Ozen
authors.forename: N
authors.initials: N
authors.lastname: Besbas
authors.forename: T
authors.initials: T
authors.lastname: Ozcelik
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003625:Data Collection; D005165:Factor V / Q000032:analysis / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D015995:Prevalence; D011336:Probability; D011446:Prospective Studies; D011516:Prothrombin / Q000032:analysis / Q000235:genetics*; D018570:Risk Assessment; D012680:Sensitivity and Specificity
chemical_list: D005819:Genetic Markers; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin