Von Willebrand disease, recessive form

Common Name(s)

Von Willebrand disease, recessive form

Von Willebrand disease is a bleeding disorder resulting from a defect in platelet aggregation due to defects in the von Willebrand factor protein. Type 3 von Willebrand disease, which is inherited as an autosomal recessive disorder, is associated with a severe quantitative defect or virtual absence of VWF in plasma, a prolonged bleeding time, and more severe bleeding tendencies compared to the other types of VWD. Type 3 accounts for about 1% of patients with VWD. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, bleeding after surgery, and hemarthroses. Since VWF also serves as a carrier protein for coagulation factor VIII (F8; {300841}), affected individuals also have very low levels of plasma F8, resembling hemophilia A ({306700}) (summary by {24,21:Zhang et al., 1992, 1993}; reviews by {11:Sadler et al., 2006} and {6:Lillicrap, 2009}). For a general description and a classification of the types of von Willebrand disease, see VWD type 1 ({193400}).
 

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