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A new von Willebrand factor (vWF) defect in a patient with factor VIII
(FVIII) deficiency but with normal levels and multimeric patterns of both
plasma and platelet vWF. Characterization of abnormal vWF/FVIII interaction
C Mazurier, J Dieval, S Jorieux, J Delobel and M Goudemand
Centre Regional de Transfusion Sanguine, CRTS, Lille, France.
The patients with inherited bleeding diathesis related to quantitative,
structural, and/or functional abnormalities of von Willebrand factor (vWF)
are said to have von Willebrand's disease (vWD). We report here the
clinical and laboratory features of a 50-year-old woman with a life- long
history of excessive bleeding. Her particular laboratory data are factor
VIII (FVIII) deficiency, subnormal bleeding time, and the presence of all
plasma and platelet vWF multimers in normal amounts. Infused with FVIII/vWF
concentrate, she showed a persistent increase in FVIII that led us to
discard hemophilia A carrier or "acquired hemophilia" diagnoses. vWF devoid
of FVIII purified from normal and patient's plasma by immunoaffinity on
anti-vWF monoclonal antibody (MoAb) was immobilized onto polystyrene tubes
that were further incubated with purified normal FVIII. The bound FVIII was
evidenced using radiolabeled anti-FVIII MoAb. The data showed that the
patient's vWF, in contrast to vWF purified from normal plasma, was unable
to bind FVIII. Furthermore, no inhibitor of FVIII/vWF interaction was
evidenced in incubating purified normal vWF with the patient's plasma
before the addition of FVIII and anti-FVIII MoAb. These results support the
concept that the bleeding diathesis of this patient appears to be due
mainly to her abnormal vWF preventing FVIII/vWF interaction. This
abnormality, which is not yet described in present classification of vWD,
could be considered as a new variant of vWD.
Volume 75,
Issue 1,
pp. 20-26,
01/01/1990
Copyright © 1990 by The American Society of Hematology
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