Triplett, Douglas A.

Type IIE von Willebrand disease has previously been identified in a single family with two affected members. We have identified a second family with five affected individuals. The pattern of inheritance is autosomal dominant and the clinical picture is characterized by mild mucocutaneous bleeding. Laboratory results for affected patients: VIII:C ranged from .62 u/ml to 1.0 u/ml, VWD antigen 2.0 u/ml to 4.75 u/ml, and ristocetin cofactor activity 0.04 u/ml to .32 u/ml. Bleeding times, PT and APTT results were within normal ranges.Multimeric analysis of both citrated plasma and platelet lysates utilizing sodium dodecyl sulfate-polyacrylamide electrophoresis was characterized by a decrease of the largest oligomers and the individual multimers were abnormal with a single identifiable band. Plasma samples collected in the presence of a variety of inhibitors had no effect on the multi-meric pattern. Intravenous infusion of DDAVP (.3 ug/kg of body weight) resulted in a slight increase in the highest molecular weight oligomers but no change in the ristocetin cofactor activity or individual multimeric patterns.