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

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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

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Type 1 von Willebrand Disease
von Willebrand Factor
Platelets
Blood Platelets
Deamino Arginine Vasopressin
Antigens
Plasmas
Bleeding Time

ASJC Scopus subject areas

  • Hematology

Cite this

Mannucci, P. M., Lombardi, R., Bader, R., Vianello, L., Federici, A. B., Solinas, S., ... Mariani, G. (1985). Heterogeneity of type I von Willebrand disease: Evidence for a subgroup with an abnormal von Willebrand factor. Blood, 66(4), 796-802.

Heterogeneity of type I von Willebrand disease : Evidence for a subgroup with an abnormal von Willebrand factor. / Mannucci, P. M.; Lombardi, R.; Bader, R.; Vianello, L.; Federici, A. B.; Solinas, S.; Mazzucconi, M. G.; Mariani, G.

In: Blood, Vol. 66, No. 4, 1985, p. 796-802.

Research output: Contribution to journalArticle

Mannucci, PM, Lombardi, R, Bader, R, Vianello, L, Federici, AB, Solinas, S, Mazzucconi, MG & Mariani, G 1985, 'Heterogeneity of type I von Willebrand disease: Evidence for a subgroup with an abnormal von Willebrand factor', Blood, vol. 66, no. 4, pp. 796-802.
Mannucci PM, Lombardi R, Bader R, Vianello L, Federici AB, Solinas S et al. Heterogeneity of type I von Willebrand disease: Evidence for a subgroup with an abnormal von Willebrand factor. Blood. 1985;66(4):796-802.
Mannucci, P. M. ; Lombardi, R. ; Bader, R. ; Vianello, L. ; Federici, A. B. ; Solinas, S. ; Mazzucconi, M. G. ; Mariani, G. / Heterogeneity of type I von Willebrand disease : Evidence for a subgroup with an abnormal von Willebrand factor. In: Blood. 1985 ; Vol. 66, No. 4. pp. 796-802.
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