title: Thrombosis in inherited factor VII deficiency.
abstract: Thrombosis in congenital factor (F) VII deficiency was investigated through extensive phenotypic and molecular-genetic studies. Patients with a history of thrombosis among 514 entries in the FVII Deficiency Study Group database were evaluated. Thrombotic events were arterial in one case, disseminated intravascular coagulation in another and venous in seven. Gene mutations were characterized in eight patients: three were homozygous, three compound heterozygous and two heterozygous. FXa and IIa generation assays were consistent with the genetic lesions. One patient was heterozygous for the FV Leiden and one for the FIIG20210A mutation. In seven patients, surgical interventions and/or replacement therapies had a close temporal relationship with thrombosis, while in the remaining, events were apparently spontaneous. Thromboses were not associated with any specific age, phenotype, mutation zygosity or thrombophilic abnormalities. In particular, severe FVII deficiency did not seem to offer protection from strong thrombosis risk factors such as surgery and replacement therapy.
authors.affiliation: Cattedra e Divisione di Ematologia, Università di Palermo, Palermo University Hospital, Via del Vespro 127, 90127 Palermo, Italy. guglielmo.mariani@tin.it
authors.forename: G
authors.initials: G
authors.lastname: Mariani
authors.forename: F H
authors.initials: FH
authors.lastname: Herrmann
authors.forename: S
authors.initials: S
authors.lastname: Schulman
authors.forename: A
authors.initials: A
authors.lastname: Batorova
authors.forename: K
authors.initials: K
authors.lastname: Wulff
authors.forename: D
authors.initials: D
authors.lastname: Etro
authors.forename: A
authors.initials: A
authors.lastname: Dolce
authors.forename: G
authors.initials: G
authors.lastname: Auerswald
authors.forename: J
authors.initials: J
authors.lastname: Astermark
authors.forename: J-F
authors.initials: JF
authors.lastname: Schved
authors.forename: J
authors.initials: J
authors.lastname: Ingerslev
authors.forename: F
authors.initials: F
authors.lastname: Bernardi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D019992:Databases as Topic; D004211:Disseminated Intravascular Coagulation / Q000235:genetics; D005165:Factor V / Q000235:genetics; D005168:Factor VII Deficiency / Q000235:genetics*; D015951:Factor Xa / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011516:Prothrombin / Q000235:genetics; D019851:Thrombophilia / Q000235:genetics*; D013927:Thrombosis / Q000150:complications* / Q000235:genetics*; D013997:Time Factors; D020246:Venous Thrombosis / Q000235:genetics
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; C025337:Factor IIa; D015951:Factor Xa