Developments in the diagnostic procedures for von Willebrand disease.

摘要: Von Willebrand disease (VWD) is the most common inherited bleeding disorder but its diagnosis can be challenging due to heterogeneity of disease. VWD mainly associated with mild mucocutaneous bleeding, although there are more severe phenotypes from gastrointestinal tract or even joints. Also, surgical interventions and trauma may lead critical events. These episodes all related quantitative qualitative defects von factor (VWF), a multimeric glycoprotein produced by endothelial cells megakaryocytes, which mediates platelet adhesion aggregation binds VIII (FVIII) in circulation. This review describes diagnostic procedures required for correct diagnosis. Accurate classification proper treatment counseling. Assessment starts medical history. After positive family history, subsequent laboratory investigations will start panel standard screening tests hemostatic defects. Patients suspected having tested plasma VWF antigen levels, ability bind platelets FVIII activity. When confirmed, set subtyping classify patients as types 1, 2 (A, B, M N) 3. The performance some additional assays analyses, such propeptide measurement genetic analysis, help identifying pathological mechanism behind certain guide choice treatment.