Inherited Variants of Factor-VIII-Related Protein in von Willebrand's Disease

Publisher Website
Google Scholar
Abstract
Three patients from each of two families suffering from von Willebrand's disease were re-evaluated to characterize more clearly the bleeding disorders included in this classification. In all six patients, male and female, the bleeding times were grossly prolonged, but levels of procoagulant factor VIII were normal or only moderately reduced. In five of the patients levels of factor-VIII-related protein measured by an immunoelectrophoretic method were normal, and in the sixth, they were normal or moderately reduced. The plasma of these patients, however, did not support ristocetin platelet aggregation, and factor-VIII-related protein showed abnormal mobility on two dimensional crossed immunoelectrophoresis. The results indicate that these patients synthesize a variant of this protein and that they represent a distinct phenotype or phenotypes of von Willebrand's disease. (N Engl J Med 291:113–117, 1974)