title: Venous thrombosis and tissue plasminogen activator release deficiency: a family study.
abstract: Thrombotic events are often due to fibrinolytic defects such as impaired tissue plasminogen activator (tPA) synthesis and/or release or increased plasminogen activator inhibitor (PAI) levels. In this report we describe four members of a family with a history of recurrent venous thrombosis, who demonstrated defective tPA release after dynamic tests. Two symptomatic patients and one asymptomatic individual showed absent or abnormally low tPA antigen (tPA:Ag) and activity (PA) increases after DDAVP infusion and/or 20 min of venous occlusion. In these patients PAI values were slightly higher than controls. A satisfactory tPA:Ag release was found in the fourth asymptomatic patient. All other coagulation tests were within the normal ranges. This familial defect of the fibrinolytic system seems to be inherited as an autosomal trait.
authors.affiliation: Second Chair of Medicine, University of Padua Medical School, Italy.
authors.forename: G M
authors.initials: GM
authors.lastname: Patrassi
authors.forename: M T
authors.initials: MT
authors.lastname: Sartori
authors.forename: M L
authors.initials: ML
authors.lastname: Viero
authors.forename: M
authors.initials: M
authors.lastname: Boscaro
authors.forename: G
authors.initials: G
authors.lastname: Boeri
authors.forename: A
authors.initials: A
authors.lastname: Girolami
mesh_terms: D000328:Adult; D003250:Constriction; D003894:Deamino Arginine Vasopressin; D005260:Female; D005342:Fibrinolysis; D006801:Humans; D008297:Male; D010375:Pedigree; D010958:Plasminogen / Q000378:metabolism; D013924:Thrombophlebitis / Q000209:etiology / Q000235:genetics*; D010959:Tissue Plasminogen Activator / Q000172:deficiency* / Q000378:metabolism; D014680:Veins
chemical_list: D010958:Plasminogen; D010959:Tissue Plasminogen Activator; D003894:Deamino Arginine Vasopressin