title: Low risk of venous thrombosis in two families with combined type I plasminogen deficiency and factor V R506Q mutation.
abstract: Two families with type I plasminogen deficiency and APC resistance are reported. The proposita of family A suffered from ischemic stroke when taking estrogen-progesterone-containing oral contraceptive. Several hemostatic challenges in the past (ovariectomy, appendectomy, and two pregnancies) were without thrombosis. Plasminogen activity and antigen (60 and 58%, normal range 72-136 and 69-135%, respectively) were reduced, and an increased APC resistance (APC-SR= 1.55; normal range 1.8-3.00) associated with G --> A change at 1,691 nucleotide position in exon 10 of FV gene (FV Leiden) was observed. The asymptomatic son had isolated plasminogen deficiency (activity 57% and antigen 60%) whereas the asymptomatic daughter had isolated APC resistance (APC-SR = 1.61) and FV Leiden mutation. The proposita of family B, referred for superficial thrombophlebitis, had low plasminogen levels (activity 55% and antigen 53%) and APC resistance (APC-SR = 1.5) whereas the asymptomatic mother and the brother had isolated APC resistance (APC-SR = 1.62 and 1.8, respectively) and the asymptomatic father isolated plasminogen deficiency (activity 61% and antigen 62%). These data suggest that the combination of plasminogen deficiency and APC resistance probably does not significantly increase the risk of venous thrombosis. However, larger experience with additional cases is needed to definitely assess the magnitude of thrombotic risk in these families.
authors.affiliation: Department of Hematology and Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Castaman
authors.forename: M
authors.initials: M
authors.lastname: Ruggeri
authors.forename: A
authors.initials: A
authors.lastname: Tosetto
authors.forename: F
authors.initials: F
authors.lastname: Rodeghiero
mesh_terms: D001777:Blood Coagulation; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D010958:Plasminogen / Q000172:deficiency*; D017354:Point Mutation; D011486:Protein C / Q000378:metabolism; D013927:Thrombosis / Q000235:genetics*
chemical_list: D011486:Protein C; D005165:Factor V; D010958:Plasminogen