Acquired von Willebrand syndrome in patients with Gaucher disease.

Abstract

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).

• Authors: Mirjana Mitrovic, Ivo Elezovic, Predrag Miljic, Nada Suvajdzic
• Journal: Blood cells, molecules & diseases (Blood Cells Mol Dis) Vol. 52 Issue 4 Pg. 205-7 (Apr 2014) ISSN: 1096-0961 [Electronic] United States
• PMID: 24275154 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013 Elsevier Inc. All rights reserved.

Chemical References

• von Willebrand Factor
• Glucosylceramidase

Topics

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