Acquired von Willebrand syndrome in patients with Gaucher disease

Blood Cells Mol Dis. 2014 Apr;52(4):205-7. doi: 10.1016/j.bcmd.2013.11.001. Epub 2013 Nov 22.


Although various coagulation abnormalities occur in patients with Gaucher disease (GD), von Willebrand factor (vWF) deficiency has rarely been reported. A retrospective review of six treatment naïve cases with GD and concomitant vWF deficiency over a 12-year-period in a single center is presented. All patients had a personal history of prior hemorrhages. Based on both reduced level of vWF antigen (vWF:Ag, range 14-56%) and ristocetin cofactor activity (vWF:RCo, range 12-53%), with a vWF:RCo/Ag ratio >0.7, the diagnosis of type 1 von Willebrand disease was made in all six cases. During enzyme replacement therapy (ERT) of a 2-year duration all patients normalized their vWF:Ag levels. Based on the positive ERT effect on vWF:Ag levels, vWF deficiency was assumed to be acquired. It should be noted that beside vWF deficiency four patients with GD exhibited mild thrombocytopenia (range 81-131×10(9)/L) and three had additional hemostatic defects (reduced collagen platelet aggregation, FV, FXI and FXII deficiencies).

Keywords: Acquired von Willebrand syndrome; Bleeding; Enzyme replacement therapy; Gaucher disease.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Blood Coagulation Tests
  • Enzyme Replacement Therapy
  • Female
  • Gaucher Disease / complications*
  • Gaucher Disease / diagnosis
  • Gaucher Disease / drug therapy
  • Glucosylceramidase / therapeutic use
  • Humans
  • Male
  • Middle Aged
  • Treatment Outcome
  • Young Adult
  • von Willebrand Diseases / blood
  • von Willebrand Diseases / diagnosis
  • von Willebrand Diseases / etiology*
  • von Willebrand Factor


  • von Willebrand Factor
  • Glucosylceramidase