A Novel Case of Compound Heterozygous Type 3 Von Willebrand Disease.

Von Willebrand disease (VWD) is the most common inherited bleeding disorder worldwide. Genetic mutations in the von Willebrand gene may result in either quantitative (Types 1 or 3) or qualitative defects (Type 2) of von Willebrand Factor (vWF). Type 3 is the rarest and most severe form of VWD, resulting in a virtual absence of vWF. Type 3 VWD follows autosomal recessive inheritance and is most often reported in patients who are homozygous for the same gene mutation. We report a patient with type 3 VWD who inherited two different mutations, one from each parent, resulting in compound heterozygosity.
(© 2019 by the Association of Clinical Scientists, Inc.)