Autosomal Recessive von Willebrand Disease Type 1 or 2 due to Homozygous or Compound Heterozygous Mutations in the von Willebrand Factor Gene

Abstract

For a long time, autosomal recessive inheritance has been considered a unique feature of type 3 von Willebrand disease (VWD), which is characterized by the virtual absence of von Willebrand factor (VWF) in plasma and storage compartments. In recent years, it has been demonstrated that this type of inheritance is also present in some type 1 and 2 families, previously considered the epitome of true dominant transmission. In many patients of these families with recessive VWD, molecular basis studies have provided insights into the molecular mechanisms responsible for the heterogeneity of phenotypes. We report our experience with 12 families with clearly recessive inheritance, but definitely measurable factor VIII and VWF, which is not typical for severe type 3 VWD.