Development of an inhibitor specific to factor VIII: coagulant activity in a patient with platelet-type von Willebrand's disease.

Abstract

Platelet-type von Willebrand's disease is a recently described autosomal dominant bleeding disorder characterized by decreased ristocetin cofactor activity, lack of the higher molecular weight von Willebrand Factor (vWF) multimers on SDS agarose gel electrophoresis, increased platelet aggregation with low concentrations of ristocetin, and increased ristocetin-induced binding of normal vWF to patient platelets. In this report the authors describe a 17-month-old male with Platelet-type von Willebrand's disease, inherited from the paternal side of his family, who developed an inhibitor specific to Factor VIII:C. The patient's plasma inhibited normal plasma VIII:C and partially purified VIII:C; it did not appear directed against normal VIIIR:Ag or ristocetin cofactor. This antibody is therefore similar to inhibitors that develop in some transfused hemophilia A patients. Since low VIII:C, VIII:CAg, and VIII:C/VIIIR:Ag ratio were encountered in his mother, it is likely that this patient has inherited hemophilia A in addition to Platelet-type von Willebrand's disease.