title: The G1691A mutation of the factor V gene (factor V Leiden) and the G20210A mutation of the prothrombin gene as risk factors in thrombotic microangiopathies.
abstract: Factor V Leiden (FVL) mutation and prothrombin G20210A mutation are common hereditary risk factors for venous thrombosis. In the current study, 40 patients (mean age +/- standard deviation, 35 +/- 11 years) and 764 healthy control subjects (mean age +/- standard deviation, 37 +/- 14 years) were enrolled to assess the potential role of these mutations in the manifestation of thrombotic microangiopathies. Compared with controls, neither the heterozygous FVL mutation (7.5% vs 8.5%; P = 1) nor the heterozygous prothrombin mutation (2.5% vs 2.8%; P = 1) was more prevalent in the patients. The findings do not support a significant role of FVL and prothrombin mutations as risk factors for the manifestation of thrombotic microangiopathies. Thus, screening for these mutations does not allow the identification of individuals at increased risk for these rare thrombotic disorders.
authors.affiliation: Department of Hemostasis and Transfusion Medicine, Heinrich Heine University Medical Center, Düsseldorf, Germany. sucker@med.uni-duesseldorf.de
authors.forename: Christoph
authors.initials: C
authors.lastname: Sucker
authors.forename: Christine
authors.initials: C
authors.lastname: Kurschat
authors.forename: Gerd R
authors.initials: GR
authors.lastname: Hetzel
authors.forename: Bernd
authors.initials: B
authors.lastname: Grabensee
authors.forename: Beate
authors.initials: B
authors.lastname: Maruhn-Debowski
authors.forename: Robert
authors.initials: R
authors.lastname: Loncar
authors.forename: Ljerka
authors.initials: L
authors.lastname: Ostojic
authors.forename: Ruediger E
authors.initials: RE
authors.lastname: Scharf
authors.forename: Rainer B
authors.initials: RB
authors.lastname: Zotz
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006463:Hemolytic-Uremic Syndrome / Q000097:blood / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D011697:Purpura, Thrombotic Thrombocytopenic / Q000097:blood / Q000235:genetics*; D012307:Risk Factors; D055815:Young Adult
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin