VON-WILLEBRAND DISEASE IN CHILDHOOD

Von Willebrand disease (vWD), a disorder of primary hemostasis, repres ents the most frequently inherited bleeding diathesis. It is caused by a quantitative reduction or a qualitative abnormality, or both, of vo n Willebrand factor (VWF), a glycoprotein normally found in plasma, en dothelial cells, subendothelial cell space, megakaryocytes and platele ts. Patients with VWD represent a heterogeneous group with different p henotypes and with clinical symptoms that vary in severity. Many of th e described types and subtypes of vWD are caused by mutations and aber rations of the vWF gene. The aim of this article is to highlight the i mpact of gene analysis on the current knowledge of the inheritance of VWD as well as on the structure-function relationship of VWF, and to f ocus on the available diagnostic laboratory tests and treatment option s for patients with VWD, especially in childhood.