Von Willebrand’s disease – the most common inherited bleeding disorder

Abstract:

Von Willebrand’s disease (VWD) is the most common inherited bleeding disorder of haemostasis. It is caused by quantitative or qualitative defects of von Willebrand factor (VWF), a complex multi-adhesive glycoprotein that has several roles in haemostasis. It binds platelets to exposed subendothelium (primary haemostasis) and carries factor VIII (FVIII) in circulation (secondary haemostasis). The diagnosis of VWD remains difficult because its clinical and laboratory phenotype is very heterogeneous, diagnostic tests for this disorder are specific and complex, available in highly specialized coagulation centers. Clinical presentations are variable, from very mild bleeding diathesis, mucous membrane and soft tissue bleedings, gastrointestinal bleedings, to very severe bleeding manifestations such are in the most severe haemophilia patients. Their severity depends on the degree of VWF and FVIII reduction. Treatment of VWD includes desmopressin, antifibrinolitics, and VWF/FVIII concentrates.

Key words:
von Willebrand’s disease; diagnosis; therapy