Absence of the largest platelet-von Willebrand multimers in a patient with lactoferrin deficiency and a bleeding tendency

Thromb Haemost. 1992 Mar 2;67(3):320-4.

Abstract

We have studied a young male with lactoferrin deficiency and a bleeding tendency responsive to cryoprecipitate. This child has had increased bleeding following surgical procedures and a variably prolonged template bleeding time. The patient has a normal platelet count, normal in vitro platelet ATP secretion and aggregation in response to a variety of agonists, and normal concentration of plasma-von Willebrand factor ristocetin cofactor activity and antigen. Analysis of plasma-vWf multimers by agarose gel electrophoresis consistently demonstrated a subtle decrease in the largest vWf multimers. In contrast, analysis of the patient's platelet-vWf revealed normal vWf:Ag, decreased vWf ristocetin cofactor activity, and a striking absence of the high and intermediate size molecular weight vWf multimers. Analysis of surface bound platelet-vWf demonstrated normal amounts on the surface of unstimulated platelets, but after thrombin stimulation the platelet-vWf surface expression did not increase. This lack of increased platelet-vWf surface expression resulted from decreased binding of secreted platelet-vWf to be surface of stimulated platelets. These data suggest that the patient's bleeding tendency may be related to a defect in his platelet-vWf structure and/or mobilization. This case represents a unique demonstration of an abnormality of platelet-vWf in the presence of normal plasma-vWf, and supports the data indicating an important role for platelet-vWf in primary hemostasis.

Publication types

  • Case Reports

MeSH terms

  • Biopolymers
  • Blood Platelets / metabolism*
  • Child
  • Disease Susceptibility
  • Hemorrhage / blood*
  • Humans
  • Lactoferrin / deficiency*
  • Male
  • Platelet Function Tests
  • von Willebrand Factor / metabolism*

Substances

  • Biopolymers
  • von Willebrand Factor
  • Lactoferrin