Abstract
Introduction
Von Willebrand's disease (vWD) is a rare inherited bleeding disorder (Orphanet number: ORPHA903) caused by the quantitative or qualitative deficiency of von Willebrand factor (vWF)1. The clinical hallmark of vWD is mucocutaneous bleeding (e.g. epistaxis, menorrhagia and gastrointestinal bleeding), but in severe forms, in which factor VIII (FVIII) levels are also significantly reduced, spontaneous haemarthroses or haematomas may occur. The severity of bleeding phenotype is still not well defined within different types of vWD2,3, and yet this is actually the key factor driving treatment decisions. As the bleeding pattern can affect quality of life and even survival3-7, it is essential to optimise the diagnostic process in order to ensure the most adequate therapeutic strategy promptly in patients presenting with spontaneous bleeding. Unfortunately, in several Centres worldwide the correct clinical and laboratory diagnosis is still hampered by the marked heterogeneity of vWD phenotypes and the need for multiple, sometimes technically complex, tests. [...]
Downloads
PDF
- Abstract viewed - 202 times
- PDF downloaded - 79 times