Von Willebrand Disease: Rediscovering an Old Disease

The diagnosis of von Willebrand Disease (VWD) has undergone an intensive re-examination by a number of international and national studies. As molecular techniques were applied to the diagnosis of VWD, defects in the DNA sequence have not always been identified and not all of the defects have been found within the VWF locus. While nearly all plasma based VWF therapeutics contain both FVIII and VWF, newer recombinant or highly purified VWF therapeutics may only contain VWF and demonstrate the importance of these two interacting proteins – particularly when used to treat acute bleeding.

Dr. Robert Montgomery will discuss some of the benefits of studying VWD through large cooperative studies like the Zimmerman Program for the Molecular and Clinical Biology of VWD. Not only are there newer tests that identify the molecular causes of abnormal VWF activity, but we are becoming increasingly aware of the difficulty in consistently diagnosing this disorder in a clinically meaningful manner.

Dr. Anne Goodeve will discuss the relative importance of doing molecular testing, particularly is diagnosing type 2 variants of VWD. While at least half of those with type 1 VWD have sequence variations, some of these variations may not be pathologic. Current registries are trying to ascertain causality for many of these sequence differences.

Dr. James O’Donnell will discuss the therapeutic approaches to treating VWD. While most treatment has relied on either Desmopressin or plasma-derived VWF concentrates, recombinant VWF has recently been approved. Since recombinant VWF doesn’t contain FVIII like the plasma-derived therapeutics, treatment of acute bleeding may require the co-administration of VWF and FVIII.