Von Willebrand disease

Von Willebrand disease (VWD) is the most common inherited bleeding disorder, caused by a deficiency or dysfunction of von Willebrand factor (VWF), a large multimeric glycoprotein essential for platelet adhesion and as a carrier for coagulation factor VIII. The disease primarily affects the hemostatic system, leading to mucocutaneous bleeding. VWD is classified into three main types: Type 1 (partial quantitative deficiency of VWF, accounting for approximately 70-80% of cases), Type 2 (qualitative defects in VWF, with subtypes 2A, 2B, 2M, and 2N), and Type 3 (virtually complete absence of VWF, the most severe form). Common synonyms include von Willebrand factor deficiency and hereditary pseudohemophilia. Key clinical features include easy bruising, prolonged bleeding from cuts or after dental and surgical procedures, frequent or prolonged nosebleeds (epistaxis), heavy menstrual bleeding (menorrhagia) in women, and in severe cases, bleeding into joints and muscles. Gastrointestinal bleeding may also occur, particularly in patients with Type 2A or Type 3 disease. The severity of symptoms varies widely, even within the same family, and many individuals with mild forms may remain undiagnosed until a hemostatic challenge such as surgery or trauma. Treatment depends on the type and severity of VWD. Desmopressin (DDAVP) is the first-line treatment for most patients with Type 1 and some Type 2 subtypes, as it stimulates the release of stored VWF from endothelial cells. For patients who do not respond to desmopressin or who have Type 3 disease, plasma-derived VWF/factor VIII concentrates (such as Humate-P or Alphanate) are used for replacement therapy. A recombinant VWF product (vonicog alfa) is also available. Antifibrinolytic agents such as tranexamic acid or aminocaproic acid are commonly used as adjunctive therapy, particularly for mucosal bleeding and menorrhagia. Hormonal therapies may help manage heavy menstrual bleeding in affected women. With appropriate management, most patients with VWD can lead normal lives, though severe Type 3 disease requires more intensive monitoring and treatment.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Von Willebrand disease