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. 2018 Jan:3:7.
doi: 10.21037/aob.2017.12.05. Epub 2018 Jan 26.

Von Willebrand disease in the United States: perspective from the Zimmerman program

Veronica H Flood  1   2   3 , Thomas C Abshire  1   2   3 , Pamela A Christopherson  1 , Kenneth D Friedman  1   2   3 , Joan Cox Gill  1   2   3 , Robert R Montgomery  1   2   3 , Sandra L Haberichter  1   2   3 ; Zimmerman Program Investigators
Affiliations

Von Willebrand disease in the United States: perspective from the Zimmerman program

Veronica H Flood et al. Ann Blood. 2018 Jan.

Abstract

This article will discuss the diagnosis and management of von Willebrand disease (VWD) in the United States and results from the Zimmerman Program, a national study of VWD. An algorithm is presented to show how we currently approach diagnostic testing for VWD, including the potential replacement of the ristocetin cofactor assay with a new von Willebrand factor (VWF)-GPIb binding assay. Results from the Zimmerman Program type 1 cohort are presented, including the findings that genetic defects in the VWF gene are most common with VWF levels <30 IU/dL, but bleeding symptoms were present across the entire cohort regardless of VWF level. Typical management of VWD patients is also discussed, including the use of desmopressin and VWF concentrates. Despite these advances, there remain several areas of VWD where more research is required to optimize treatment.

Keywords: hemostasis; platelets; von Willebrand disease (VWD); von Willebrand factor (VWF).

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Conflict of interest statement

Conflicts of Interest: VHF has served as a consultant for CSL Behring and Shire. KDF has served as a consultant for Bayer, CSL Behring, Genentech, NovoNordisk, and Shire, and as a speaker for Alexion. RRM has a patent for a VWF:GPIbM assay that is used by the Blood Center of Wisconsin. The remaining authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Algorithm for laboratory diagnosis of VWD. The algorithm starts with a patient presenting with bleeding symptoms, and proceeds through our evaluation for a possible diagnosis of VWD. VWF:GPIbM/VWF:RCo is used to designate that either the VWF:GPIbM assay or the VWF:RCo assay may be used to assess VWF function. ↓, decreased; ↑, increased. VWD, von Willebrand disease; VWF, von Willebrand factor; VWF:Ag, VWF antigen; VWF:GPIbM, VWF activity using gain-of-function (mutant) platelet glycoprotein Ib; VWF:RCo, VWF activity using ristocetin cofactor activity; VWF:CB, VWF collagen binding; FVIII, factor VIII; VWFpp, VWF propeptide; LD-RIPA, low dose ristocetin induced platelet aggregation; VWF:PB, VWF platelet binding assay; VWF:F8B, VWF FVIII binding assay.
Figure 2
Figure 2
Bleeding scores in Zimmerman program subjects at time of study enrollment. The number of subjects with normal (in light gray) or abnormal (in dark gray) bleeding scores using the ISTH Bleeding Assessment Tool is shown for type 1 Zimmerman Program subjects with VWF:Ag <30, 30–50, and >50 IU/dL at time of study entry as compared to healthy control subjects (controls). #, number. VWF:Ag, von Willebrand factor antigen.
See this image and copyright information in PMC

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