Abstract
The clinical features of 47 patients with von Willebrand's disease were studied. Nose bleeding was the most common symptom and ecchymoses, bleeding after tooth extraction, gingival bleeding and prolonged bleedings from trivial wounds were fairly common. Gynecological bleedings were also prominent symptoms in females. One patient revealed a joint bleeding with arthropathy and one patient showed an intramuscular bleeding. The mode of inheritance was mainly autosomal dominant, but there were five sporadic cases. The parental consanguinity was recongnized in three families.
Von Willebrand factor activity (VIII R: WF) appeared to be the most useful parameter to diagnose von Willebrand's disease. There were five patients with undetectable factor VIII related antigen (VIII R: AG), but VIII R: AG and factor V III procoagulant activity (VIII: C) were within the normal range in a number of patients. An increased anodal migration of VIII R: AG was detected in 14 of 18 patients in which was performed two-dimensional crossed immunoelectophoresis. Among classical cases there were many patients who showed increased electrophoretic mobility of VIIIR: AG.
There was a significant positive correlation between VIII R: AG and VIII: C (r=0.710, p<0.001) and the ratio of VIII: C/VIII R: AG was more than 1.0 in patients with decreased VIII R: AG. There was no significant correlation between VIII: C and VIIIR: WF. Although there was a positive correlation between VIII R: AG and VIII R: WF (r=0.407, p<0.02), there was a discrepancy between them in patients with normal VIII R: AG. This finding suggested that there was a qualitative abnormality of the factor VIII molecules in these patients.
It was assumed that patients with von Willebrand's disease had a defect in primary hemostasis with reduced VIII R: WF due to a quantitative and/or qualitative abnormality of the factor VIII protein.
