A variant of type II von Willebrand disease with an abnormal triplet structure and discordant effects of protease inhibitors on plasma and platelet von Willebrand factor structure.
We have characterized the plasma and platelet von Willebrand factor (vWf) multimeric structure of a patient with von Willebrand disease (vWd) as having a long bleeding time, no aggregation of her platelet-rich plasma (PRP) to ristocetin, and very low plasma and platelet von Willebrand antigen (vWf Ag) and vWf activity. The abnormalities of the plasma and platelet vWf have not been previously described. In particular, the patient's plasma and platelet vWf lacked the intermediate and largest vWf multimers and the slowest migrating minor band (band 1) of the triplet was markedly diminished compared to the major band (band 2) and the fastest migrating band of the triplet (band 3). A similar multimeric structure was seen in the platelet vWf. Collection of the patient's blood in protease inhibitors prior to the analysis of the platelet and plasma vWf structure revealed that the plasma vWf multimeric structure did not change, while the patient's platelet vWf showed a marked change with the appearance of the intermediate and large multimers and almost total disappearance of the abnormal multimeric structure. Direct comparison of this patient's plasma with previously reported cases of type IIA, IIC, and IID revealed marked differences in their multimeric organization compared to our patient. Employing the presently accepted convention, we have designated this variant type of vWd type IIG.
D001792:Blood Platelets / Q000032:analysis; D004587:Electrophoresis, Agar Gel; D014644:Genetic Variation; D006801:Humans; D011480:Protease Inhibitors / Q000494:pharmacology*; D011487:Protein Conformation; D014842:von Willebrand Diseases / Q000145:classification / Q000235:genetics*; D014841:von Willebrand Factor / Q000032:analysis* / Q000235:genetics
D011480:Protease Inhibitors; D014841:von Willebrand Factor