Venous thrombosis in a family with defective release of vascular plasminogen activator and elevated plasma factor VIII/von Willebrand's factor.
A family is described in which venous thrombosis developed in five members as early as 14 years of age. Routine coagulation studies, plasma antithrombin III, factor V, plasminogen, beta-thromboglobulin, fibrinopeptide A, prothrombin fragment F1+2, and thrombin-antithrombin III complex were all within normal limits. However, defective release of vascular plasminogen activator was observed on several occasions in all five subjects as compared with a control population of 125 persons (0.04 Committee on Thrombolytic Agents [CTA] units/ml plasma as compared with 0.21 CTS units/ml). In addition, levels of factor VII/von Willebrand's factor were significantly elevated above the normal range in this pedigree.
D000293:Adolescent; D000328:Adult; D000990:Antithrombin III / Q000032:analysis; D001779:Blood Coagulation Factors / Q000032:analysis*; D005165:Factor V / Q000032:analysis; D005169:Factor VIII / Q000032:analysis*; D006801:Humans; D008297:Male; D010375:Pedigree; D010958:Plasminogen / Q000032:analysis; D010960:Plasminogen Activators / Q000097:blood* / Q000378:metabolism; D010974:Platelet Aggregation; D013917:Thrombin / Q000032:analysis; D013924:Thrombophlebitis / Q000097:blood / Q000235:genetics*; D014841:von Willebrand Factor / Q000032:analysis*
D001779:Blood Coagulation Factors; D014841:von Willebrand Factor; D000990:Antithrombin III; D005165:Factor V; D005169:Factor VIII; D010958:Plasminogen; D010960:Plasminogen Activators; D013917:Thrombin