Von Willebrand disease 'Vicenza' with larger-than-normal (supranormal) von Willebrand factor multimers

P. M. Mannucci, R. Lombardi, G. Castaman, J. A. Dent, A. Lattuada, F. Rodeghiero, T. S. Zimmerman

Research output: Contribution to journalArticle

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Abstract

When normal volunteers or patients with type I von Willebrand disease (VWD) are given desmopressin (DDAVP), a set of larger-than-normal (supranormal) von Willebrand factor (VWF) multimers, similar to those present in VWF-containing cells such as platelets megakaryocytes and endothelial cells, appear transiently in postinfusion plasma. In two kindreds with mild lifelong bleeding symptoms transmitted as an autosomal dominant trait, all ten symptomatic members (but none of the five asymptomatic members) had a supranormal multimeric structure for plasma VWF, apparently identical to that seen for postdesmopressin normal plasma. Plasma factor VIII coagulant activity (VIII:C), VWF antigen (VWF:Ag), restocetin-induced platelet agglutination, and ristocetin cofactor (RiCof) activity were low. Platelet VWF:Ag and RiCof levels (tested for three patients only) were normal. Bleeding times were normal or slightly prolonged. The patients' platelet multimeric structure was the same as that for normal platelets. After desmopressin infusion the plasma VWF multimeric structure remained supranormal as for preinfusion plasma, with VIII:C VWF:Ag and RiCof increasing markedly over baseline values and disappearing at a normal rate. Examination of the VWF subunit composition from three of these patients indicated that proteolytic processing of their VWF did not differ from normal. This study describes the first variant of VWD with a supranormal multimeric structure.

Original languageEnglish
Pages (from-to)65-70
Number of pages6
JournalBlood
Volume71
Issue number1
Publication statusPublished - 1988

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von Willebrand Diseases
von Willebrand Factor
Platelets
Plasmas
Blood Platelets
Deamino Arginine Vasopressin
Coagulants
Type 1 von Willebrand Disease
Bleeding Time
Megakaryocytes
Agglutination
Endothelial cells
Factor VIII
Healthy Volunteers
Thermodynamic properties
Endothelial Cells

ASJC Scopus subject areas

  • Hematology

Cite this

Mannucci, P. M., Lombardi, R., Castaman, G., Dent, J. A., Lattuada, A., Rodeghiero, F., & Zimmerman, T. S. (1988). Von Willebrand disease 'Vicenza' with larger-than-normal (supranormal) von Willebrand factor multimers. Blood, 71(1), 65-70.

Von Willebrand disease 'Vicenza' with larger-than-normal (supranormal) von Willebrand factor multimers. / Mannucci, P. M.; Lombardi, R.; Castaman, G.; Dent, J. A.; Lattuada, A.; Rodeghiero, F.; Zimmerman, T. S.

In: Blood, Vol. 71, No. 1, 1988, p. 65-70.

Research output: Contribution to journalArticle

Mannucci, PM, Lombardi, R, Castaman, G, Dent, JA, Lattuada, A, Rodeghiero, F & Zimmerman, TS 1988, 'Von Willebrand disease 'Vicenza' with larger-than-normal (supranormal) von Willebrand factor multimers', Blood, vol. 71, no. 1, pp. 65-70.
Mannucci PM, Lombardi R, Castaman G, Dent JA, Lattuada A, Rodeghiero F et al. Von Willebrand disease 'Vicenza' with larger-than-normal (supranormal) von Willebrand factor multimers. Blood. 1988;71(1):65-70.
Mannucci, P. M. ; Lombardi, R. ; Castaman, G. ; Dent, J. A. ; Lattuada, A. ; Rodeghiero, F. ; Zimmerman, T. S. / Von Willebrand disease 'Vicenza' with larger-than-normal (supranormal) von Willebrand factor multimers. In: Blood. 1988 ; Vol. 71, No. 1. pp. 65-70.
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