New congenital deficiency of high molecular weight kininogen and prekallikrein (Fitzgerald trait). Study of response to DDAVP and venous occlusion.
The prolonged partial thromboplastin time observed in the plasma of a 36 year old asymptomatic man was related to the reduced prekallikrein activities (coagulant; antigenic; and amidolytic) and the absence of coagulant and immunologic activities of high molecular weight kininogen (HMWKg). The patient's plasma also exhibited impaired surface-mediated fibrinolysis and impaired generation of kallikrein. The coagulation defect was identified as the "Fitzgerald trait". The levels of CH50, C2, C4 and C-1 inactivator were normal. Venous occlusion in the patient gave rise to a normal release of extrinsic plasminogen activator from the vascular endothelium. The administration of DDAVP led to a FVIII/VWF response which was similar to that obtained in healthy subjects. No alteration could be observed in the contact phase proteins after DDAVP administration.
D000328:Adult; D001778:Blood Coagulation Disorders / Q000097:blood / Q000151:congenital* / Q000628:therapy; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use*; D006801:Humans; D007610:Kallikreins / Q000032:analysis*; D007704:Kininogens / Q000172:deficiency*; D007705:Kinins; D008297:Male; D011288:Prekallikrein / Q000032:analysis*; D011498:Protein Precursors / Q000172:deficiency*; D013577:Syndrome; D014111:Tourniquets
D007704:Kininogens; D007705:Kinins; D011498:Protein Precursors; C046022:prekininogens; D011288:Prekallikrein; D007610:Kallikreins; D003894:Deamino Arginine Vasopressin