ABSTRACT
von Willebrand disease (VWD) is the most common inherited bleeding disorder in humans,
but its diagnosis, using conventional clinical criteria and phenotypic hemostasis
test results, can be problematic. The von Willebrand factor gene was cloned in the
mid-1980s, and since that time, a significant amount of information has been gathered
with respect to the molecular pathology responsible for this trait. This accumulated
information, along with advances in genetic technology, has now made the integration
of molecular genetic testing for VWD a feasible option in some instances. In this
review, we have summarized the current state of knowledge concerning the genetic causation
of the various forms of VWD. We have also provided guidelines as to how genetic testing
can be used to clarify diagnostic uncertainty that might remain after a clinical evaluation
and routine coagulation testing has been completed.
KEYWORDS
von Willebrand disease - genetics - polymorphisms - mutations
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Dr. David Lillicrap
Department of Pathology and Molecular Medicine, Richardson Laboratory, Queen's University
Kingston, Ontario K7L 3N6, Canada
Email: lillicrap@cliff.path.queensu.ca
