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von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von
Willebrand factor multimers
PM Mannucci, R Lombardi, G Castaman, JA Dent, A Lattuada, F Rodeghiero and TS Zimmerman
A. Bianchi Bonomi Hemophilia and Thrombosis Center, University of Milano,
Italy.
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), ristocetin-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.
Volume 71,
Issue 1,
pp. 65-70,
01/01/1988
Copyright © 1988 by The American Society of Hematology
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