Type IIA von Willebrand disease with apparent recessive inheritance.
Type IIA von Willebrand's Disease (vWD) is the most common type II variant, and all reported cases (56 individuals in 26 families) have had autosomal dominant inheritance. An eight-year-old female with an increased bleeding tendency since infancy was found to have laboratory values typical of type IIA vWD, but her parents and siblings were asymptomatic. With the exception of uniformly decreased levels of ristocetin cofactor in relation to von Willebrand factor antigen, the results of family studies were normal including the presence of large multimeric forms of von Willebrand factor antigen. These findings are consistent with the propositus having the homozygous state of an autosomal recessive trait. Desmopressin infusion in the propositus was followed by a significant increase of factor VIII coagulant and von Willebrand factor antigen but a limited change in ristocetin cofactor with no development of large multimers.
D000941:Antigens / Q000032:analysis; D002648:Child; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use; D004591:Electrophoresis, Polyacrylamide Gel; D005169:Factor VIII / Q000032:analysis; D005260:Female; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D010375:Pedigree; D011487:Protein Conformation; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000032:analysis
D000941:Antigens; C029417:Von Willebrand antigen; D014841:von Willebrand Factor; D005169:Factor VIII; D003894:Deamino Arginine Vasopressin