Familial hypofibrinolysis and venous thrombosis.
Nine patients with, and 11 without, venous thromboses (DVT) from two families were studied. In family 1, four members with, and one without, DVT had t-PA activity below the lower limit of the controls (21.3 IU/ml, n = 19) after 20 min venous occlusion (VO). After VO t-PA antigen (t-PA:Ag) was below the lowest value of the controls (22.8 ng/ml) in all five cases with low t-PA activity. All the family members, both with and without thrombosis, had normal t-PA inhibitor activities (PAI). In family 2 t-PA activity after VO was low in three symptomatic and four asymptomatic family members. t-PA:Ag was also low in four of these. PAI level was normal in all but one family member. Mild type I von Willebrand's disease was discovered in four members of family 2. Deficient t-PA:Ag response was found in two of these. Antithrombin III, protein C and protein S were normal in both families. It is concluded that low fibrinolytic capacity, independent of PAI, is associated with familial DVT. Our data suggests autosomal dominant inheritance.
Petäjä
J
J
Finnish Red Cross Blood Transfusion Service, Helsinki, Finland.
Rasi
V
V
Myllylä
G
G
Vahtera
E
E
Hallman
H
H
D000328:Adult; D000941:Antigens / Q000032:analysis; D005190:Family; D005260:Female; D005342:Fibrinolysis; D006801:Humans; D008297:Male; D010375:Pedigree; D013924:Thrombophlebitis / Q000378:metabolism / Q000503:physiopathology*; D010959:Tissue Plasminogen Activator / Q000037:antagonists & inhibitors / Q000378:metabolism
D000941:Antigens; D010959:Tissue Plasminogen Activator