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Von Willebrand Disease

Studies from V.H. Flood and colleagues reveal new findings on von Willebrand disease

Published in Blood Weekly, December 3rd, 2009

"Type 2M von Willebrand disease (VWD) is characterized by a qualitative defect in von Willebrand factor (VWF) and diagnosed by a disproportionate decrease in VWF ristocetin cofactor activity (VWF:RCo) as compared with VWF antigen (VWF:Ag). We report here on the spurious diagnosis of VWD in a patient with a sequence variation in the ristocetin-binding domain of VWF," researchers in the United States report.

"The index case had a VWF:RCo of 11 IU dL-1, with VWF:RCo/VWF:Ag ratio of 0.09. DNA sequencing revealed a novel P1467S mutation in a known ristocetin-binding region of the A1 domain. Because of the discrepancy between the laboratory findings, consistent with type 2M...

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