title: 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.affiliation: Clinic of Hematology CCS, Koste Todorovica 2, Belgrade, Serbia. Electronic address: mmg@beotel.net.
authors.forename: Mirjana
authors.initials: M
authors.lastname: Mitrovic
authors.affiliation: Clinic of Hematology CCS, Koste Todorovica 2, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Dr Subotica 8, Belgrade, Serbia.
authors.forename: Ivo
authors.initials: I
authors.lastname: Elezovic
authors.affiliation: Clinic of Hematology CCS, Koste Todorovica 2, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Dr Subotica 8, Belgrade, Serbia.
authors.forename: Predrag
authors.initials: P
authors.lastname: Miljic
authors.affiliation: Clinic of Hematology CCS, Koste Todorovica 2, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Dr Subotica 8, Belgrade, Serbia.
authors.forename: Nada
authors.initials: N
authors.lastname: Suvajdzic
mesh_terms: D000293:Adolescent; D000328:Adult; D001780:Blood Coagulation Tests; D056947:Enzyme Replacement Therapy; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D005962:Glucosylceramidase / Q000627:therapeutic use; D006801:Humans; D008297:Male; D008875:Middle Aged; D016896:Treatment Outcome; D055815:Young Adult; D014842:von Willebrand Diseases / Q000097:blood / Q000175:diagnosis / Q000209:etiology*; D014841:von Willebrand Factor
chemical_list: D014841:von Willebrand Factor; D005962:Glucosylceramidase
keywords: Acquired von Willebrand syndrome; Bleeding; Enzyme replacement therapy; Gaucher disease