Assessment ofvon Willebrand Factor Propeptide Improves the Diagnosis ofvon Willebrand Disease

Abstract

One of the more recent findings concerning Von Willebrand disease (VWD) is that a shorter Von Willebrand factor (VWF) survival either decides or modulates the VWD phenotype by downregulating circulating VWF levels. VWF survival is currently investigated with the desmopressin (DDAVP) test, a time-consuming strategy enabling the main pharmacokinetic parameters (e.g., VWF half-life elimination time and clearance) to be defined. An alternative now available involves assaying the VWF propeptide (VWFpp) in single steady-state blood samples, which reportedly increases as VWF survival decreases. This article demonstrates how measuring VWFpp and calculating the VWFpp-to-VWF:antigen ratio (VWFpp ratio) are good alternatives to DDAVP for investigating VWF survival. In type 1 VWD, the VWFpp ratio has been found normal in patients with pure quantitative VWF defects, markedly increased in cases with an isolated decline in VWF survival, and more or less increased in patients with both quantitative defects and a shorter VWF survival. The same applies to type 2B VWD, which is characterized by an increased VWFpp ratio and a shorter VWF survival, with values that appear inversely related. Exploring VWF half-life by assaying VWFpp is useful not only for the more precise characterization of VWD but also for defining its most appropriate treatment.