血液疾病与输血杂志

抽象的

Von Willebrand Disease: An Update

Dipika Mohanty

Von Willebrand disease (VWD) is a common hereditary bleeding disorder, inherited either as an autosomally dominant or recessive trait. It is caused by a quantitative and/ or qualitative defect in the Von Willebrand Factor (VWF) which plays two critical roles in hemostasis i.e., platelet adhesion and aggregation to damaged endothelium, and also as a carrier for Factor VIII (FVIII) molecule which stabilizes FVIII in the circulation. It is a highly heterogeneous disease with bleeding ranging from mild bleeding tendencies to severe life threatening hemorrhage. Patients are classified as type 1, type 2 and type 3, depending on the qualitative and quantitative defects in VWF antigen. Type 3 i.e., severe VWD has been reported to be the most prevalent subtype in Indian population due to two reasons i.e., higher degree of consanguinity in certain parts of the country and the fact that it is a hospital prevalence data and only patients with severe manifestations present themselves in the hospital. The most common bleeding symptoms in VWD reflect the characteristic defect in platelet adhesion and mucocutanous bleeding especially epistaxis, gum bleeding, menorrhagia and ecchymoses. Bleeding symptoms are of mild to moderate severity for patients with type 1 and few variants of type 2 VWD. However, life-threatening bleeding (Central nervous system, gastrointestinal bleed) can occur in type 3 and type 2 VWD patients, and rarely in type 1 VWD patients. Uncommon bleeding manifestations, such as hemarthrosis, and muscle haematomas are more common in severe deficiency, especially those who have type 3 VWD. Diagnosis, genetic counseling, carrier and antenatal diagnosis plays an important role in the comprehensive management of these cases.