Abstract
von Willebrand disease (VWD) is reportedly the most common inherited bleeding disorder. This disorder develops as a result of defects and/or deficiency of the plasma protein von Willebrand factor (VWF). Laboratory testing for VWF-related disorders requires the assessment of both VWF level and VWF activity, the latter requiring multiple assays. As an additional step, an evaluation of VWF structural features by multimer analysis is useful in selective investigations. Multimer analysis is also important for the selection of a suitable VWF therapy preparation (desmopressin, VWF/FVIII concentrate, recombinant VWF) and the determination of the correct dose for the patient. Based on clinical and laboratory findings, including the analysis of VWF multimers, we classified our patients into individual types of VWD. Our study group included 58 patients. The study group consisted of 66% (38 patients) with VWD type 1, 5% (3 patients) with VWD type 2, 7% (4 patients) with VWD type 3, 5% (3 patients) with mixed type 1/2A VWD, and 17% (10 patients) comprising an unclassified group. In this article, we provide an overview of our practical experience using a new complementary method—the analysis of von Willebrand factor multimers with a semi-automatic analyzer Hydrasys 2 scan. We explain the principle, procedure, advantages, and pitfalls associated with the introduction of the VWF multimer analysis methodology into standard VWD diagnostics.
Highlights
Introduction published maps and institutional affilVon Willebrand disease (VWD) reflects conditions caused by von Willebrand factor (VWF) deficiency and/or defects
We have evaluated the densitometric representation of the peaks according to the manufacturer’s recommendations from left to right, with peaks 1–3 being low-molecular weight (LMW), 4–7 being intermediate-molecular weight multimers (IMW), and all other peaks being high-molecular weight (HMW) (Figure 1) [21,22]
The rational diagnostic strategy for patients with von Willebrand disease (VWD) is based on phenotypic analysis and, in specific cases, genotypic analysis
Summary
Von Willebrand disease (VWD) reflects conditions caused by von Willebrand factor (VWF) deficiency and/or defects. Actual estimates may be higher in the general population as many people with a VWF mutation are asymptomatic or undiagnosed [1,2]. VWF is a multimeric protein that performs two key functions in hemostasis. It is involved in the interaction between platelets and the subendothelium at the site of vascular damage, and in the interaction between platelets [5,6,7]. VWF forms a complex with factor VIII, protecting it from proteolysis by activating protein C [8,9,10,11]
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