title: Venous thromboembolism at a young age in a brother and sister with coinheritance of homozygous 20210A/A prothrombin mutation and heterozygous 1691G/A factor V Leiden mutation.
abstract: We report on members of a Turkish thrombophilic family with coinheritance of the prothrombin mutation PT20210A and the factor V Leiden mutation. The 23-year-old propositus and his elder sister both had episodes of venous theomboembolism at a young age (23 years and 26 years, respectively) and are homozygous for the PT20210A mutation and heterozygous for the factor V Leiden mutation. The 51-year-old father is suffering from coronary heart disease and is heterozygous for both thrombophilic mutations. The asymptomatic 43-year-old mother is heterozygous for the PT20210A mutation, but without activated protein C resistance. Two other children, a 20-year-old girl who is homozygous for the PT20210A mutation and a 13-year-old boy who is heterozygous for the PT20210A mutation, are both free from activated protein C resistance and thrombosis. This report provides further evidence for an early onset of thromboembolic disorders in individuals with an homozygous state of the prothrombin variant 20210A/A and coinheritance of another thrombophilic mutation. Consensus guidelines are required for the treatment and prophylaxis of patients and subjects who remain asymptomatic with homozygous or more than one heterozygous genetic defect associated with thrombophilia.
authors.affiliation: Institute of Laboratory Medicine, Thrombophilia Center, Municipal Hospital Lainz, Austria. ham@lab.khl.magwien.gv.at
authors.forename: W M
authors.initials: WM
authors.lastname: Halbmayer
authors.forename: T
authors.initials: T
authors.lastname: Kalhs
authors.forename: A
authors.initials: A
authors.lastname: Haushofer
authors.forename: F
authors.initials: F
authors.lastname: Breier
authors.forename: M
authors.initials: M
authors.lastname: Fischer
mesh_terms: D000328:Adult; D000367:Age Factors; D005165:Factor V / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011516:Prothrombin / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics* / Q000503:physiopathology
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin