title: Residual iliofemoral thrombosis in a 31-year-old woman on oral contraceptives possessing heterozygous factor V Leiden, factor XIII Val34Leu allele and alpha-fibrinogen Thr312Ala allele: case report.
abstract: We present the case of a 31-year-old woman on oral contraceptives with a 3-year history of iliofemoral thrombosis resistant to recanalization despite satisfactory anticoagulation therapy and absence of concomitant diseases. Thrombophilia screening revealed heterozygous factor V Leiden mutation. We also detected the presence of factor XIII (FXIII) Leu34 allele and alpha-chain fibrinogen 312Ala allele, which are known to adversely affect fibrin clot structure and lysis. It might be speculated that the presence of 3 polymorphisms in this patient could contribute to proximal thrombosis resistant to treatment. We postulate that determination of FXIII and alpha-fibrinogen polymorphisms can be useful in the evaluation of some young patients with deep vein thrombosis.
authors.affiliation: Department of Cardiovascular Surgery and Transplantology, Institute of Cardiology, Jagiellonian University School of Medicine, Kraków, Poland. mdul@szpitaljp2.krakow.pl
authors.forename: Mariola
authors.initials: M
authors.lastname: Cieśla-Dul
authors.forename: Bogusław
authors.initials: B
authors.lastname: Gaweda
authors.forename: Ewa
authors.initials: E
authors.lastname: Wypasek
authors.forename: Maria
authors.initials: M
authors.lastname: Rózańska
authors.forename: Jerzy
authors.initials: J
authors.lastname: Sadowski
mesh_terms: D000328:Adult; D003276:Contraceptives, Oral / Q000009:adverse effects*; D005165:Factor V / Q000187:drug effects / Q000235:genetics*; D005176:Factor XIII / Q000187:drug effects / Q000235:genetics*; D005260:Female; D005268:Femoral Vein / Q000000981:diagnostic imaging; D005340:Fibrinogen / Q000187:drug effects / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D007084:Iliac Vein / Q000000981:diagnostic imaging; D017354:Point Mutation; D011110:Polymorphism, Genetic; D014463:Ultrasonography; D020246:Venous Thrombosis / Q000139:chemically induced* / Q000000981:diagnostic imaging / Q000235:genetics*
chemical_list: D003276:Contraceptives, Oral; C095381:factor V Leiden; D005165:Factor V; D005340:Fibrinogen; D005176:Factor XIII