Studies of multimerin in patients with von Willebrand disease and platelet von Willebrand factor deficiency Academic Article uri icon

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abstract

  • In normal platelet alpha-granules von Willebrand factor (VWF) is stored with multimerin and factor V in an eccentric electron-lucent zone. Because the platelet stores of VWF are deficient in 'platelet low' type 1 and type 3 von Willebrand disease (VWD), we investigated their electron-lucent zone proteins. The patients with VWD had partial to complete deficiencies of plasma and platelet VWF but normal alpha-granular multimerin and factor V, and normal alpha-granular fibrinogen, thrombospondin-1, fibronectin, osteonectin and P-selectin. In type 3 VWD platelets, alpha-granular electron-lucent zones lacking VWF-associated tubules were identified and multimerin was found in its normal alpha-granular location. These findings indicate that the formation of the electron-lucent zone and the sorting of multimerin to this region occur independent of VWE The isolated abnormalities in VWF suggests a VWF gene mutation is the cause of 'platelet low' type 1 VWD.

authors

  • Chen, Christine I
  • Federici, Augusto B
  • Cramer, Elisabeth M
  • Canciani, Maria T
  • Harrison, Paul
  • Zheng, Shilun
  • MassE, Jean-Marc
  • Mannucci, Pier M
  • Hayward, Catherine Pauline Ma

publication date

  • October 1998