Heterogeneity of type I von Willebrand disease: Evidence for a subgroup with an abnormal von Willebrand factor

P. M. Mannucci, R. Lombardi, R. Bader, L. Vianello, A. B. Federici, S. Solinas, M. G. Mazzucconi, G. Mariani

Research output: Contribution to journalArticlepeer-review

Abstract

Type I von Willebrand disease (vWD) is characterized by equally low plasma concentrations of von Willebrand factor antigen (vWF:Ag) and ristocetin cofactor (RiCof) and by the presence of all vWF multimers in sodium dodecyl sulfate (SDS)-agarose gel electrophoresis. For 17 patients (13 kindreds) diagnosed with these criteria, we have studied the platelet contents of vWF:Ag and RiCof and the changes of these in plasma after DDAVP infusion. Platelet vWF:Ag and RiCof were normal in four kindreds (called 'platelet normal' subgroup); following 1-deamino-8-D-arginine vasopressin; plasma vWF:Ag, Ricof and the bleeding time (BT) became normal. In six kindreds, platelet vWF:Ag and RiCof were equally low (platelet low); after DDAVP, plasma vWF:Ag and RiCof remained low, and the BT was prolonged. In three additional kindreds, platelets contained normal concentrations of vWF:Ag, but RiCof was very low (platelet discordant); even though a complete set of multimers was found in plasma and platelets, there was a relatively small amount of large multimers. After DDAVP, plasma vWF:Ag became normal, but RiCof remained low and the BT was very prolonged. These findings demonstrated that there can be an abnormal vWF (RiCof <vWF:Ag) even in type I vWD, coexisting with a complete set of vWF multimers (platelet discordant); that the abnormal vWF can be shown more clearly in platelets than in plasma or else in plasma after DDAVP infusion; and that DDAVP normalizes the BT only in those patients with normal platelet levels of both vWF:Ag and RiCof (platelet normal).

Original languageEnglish
Pages (from-to)796-802
Number of pages7
JournalBlood
Volume66
Issue number4
Publication statusPublished - 1985

ASJC Scopus subject areas

  • Hematology

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