von Willebrand disease is a common inherited
bleeding disorder characterized by excessive mucocutaneous
bleeding. Characteristic
bleeding symptoms include
epistaxis, easy bruising, oral cavity
bleeding,
menorrhagia,
bleeding after dental extraction, surgery, and/or childbirth, and in severe cases,
bleeding into joints and soft tissues. There are three subtypes: types 1 and 3 represent quantitative variants and type 2 is a group of four qualitative variants: (1) type 2A-characterized by defective
von Willebrand factor-dependent platelet adhesion because of decreased high-molecular-weight
von Willebrand factor multimers, (2) type 2B-caused by pathologically increased
von Willebrand factor-platelet interactions, (3) type 2M-caused by decreased
von Willebrand factor-platelet interactions not based on the loss of high-molecular-weight multimers, and (4) type 2N-characterized by reduced binding of
von Willebrand factor to
factor VIII. The diagnosis of
von Willebrand disease requires specialized assays of
von Willebrand factor and/or molecular genetic testing of
von Willebrand factor. Severe
bleeding episodes can be prevented or controlled with
intravenous infusions of virally inactivated plasma-derived
clotting factor concentrates containing both
von Willebrand factor and
factor VIII. Depending on the
von Willebrand disease type, mild
bleeding episodes usually respond to intravenous or subcutaneous treatment with
desmopressin, a
vasopressin analog. Other treatments that can reduce symptoms include fibrinolytic inhibitors and
hormones for
menorrhagia.