How is von Willebrand disease (vWD) type 1 diagnosed?

Updated: Dec 30, 2019
  • Author: Eleanor S Pollak, MD; Chief Editor: Srikanth Nagalla, MBBS, MS, FACP  more...
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Answer

vWD type 1 can be diagnosed in a patient with significant mucocutaneous bleeding, laboratory test results compatible with vWD type 1, and a positive family history for vWD type 1. However, these criteria may be impossible to satisfy in many patients for various reasons. Therefore, physicians must acknowledge this diagnostic uncertainty and should not deny patients treatment, especially when patients' laboratory test results are compatible with vWD type 1 and the patients have either a significant history of mucocutaneous bleeding or a positive family history for vWD type I.

A less common problem is the misdiagnosis of vWD type 1 in patients who actually have a qualitative defect. The results of screening tests recommended for patients with vWD type 1 often show proportionally decreased RCoF activity and vWF:Ag in patients with vWD type 2B, although classic teaching is that a discrepancy should exist between the 2 tests. In this scenario, ristocetin-induced platelet aggregation test results should demonstrate an exaggerated affinity of the mutant vWF for platelets in the presence of ristocetin.


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