Heterogeneity in type IIB von Willebrand disease: two unrelated cases with no family history and mild abnormalities of ristocetin-induced interaction between von Willebrand factor and platelets.
Two patients from two separate families were diagnosed as having type IIB von Willebrand disease, because they had lifelong bleeding tendencies, prolonged bleeding times, no large von Willebrand factor multimers, and low levels of ristocetin cofactor in plasma with heightened ristocetin-induced platelet aggregation. There was no history of bleeding, and no laboratory abnormalities were found in the parents and sibship of either propositi, in contrast with the autosomal dominant pattern of inheritance usually observed in type IIB von Willebrand disease. Abnormalities of ristocetin-induced von Willebrand factor-platelet interactions were less severe than in a patient from a previously reported family with type IIB von Willebrand disease studied in parallel. The peculiar features of these cases provide additional evidence of the existence of heterogeneity within this variant.
D001792:Blood Platelets / Q000378:metabolism*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D012310:Ristocetin; D014842:von Willebrand Diseases / Q000097:blood / Q000145:classification / Q000235:genetics*; D014841:von Willebrand Factor / Q000378:metabolism*
D014841:von Willebrand Factor; D012310:Ristocetin