von Willebrand disease (VWD) is the most common congenital bleeding disorder with an estimated incidence of 1% in the general population. The disorder is classified into three main types: type 1 and type 3 as quantitative deficiency and type 2 as qualitative defects. The bleeding tendency is highly variable in VWD, ranging from an asymptomatic condition, mainly in type 1 VWD, to severe life-threatening hemorrhage, most notably in type 3 VWD. Diagnosis of the disorder is sophisticated and requires advanced laboratory testing and precise clinical assessment. Bleeding symptoms, decreased VWF level and/or activity, and the pattern of inheritance are three main criteria for appropriate and timely diagnosis of VWD. Although on-demand therapy is the mainstay of treatment in VWD, long-term prophylaxis is recommended for those with recurrent and severe hemorrhages. Different therapeutic choices are available in VWD including VWF/FVIII concentrates, recombinant VWF, desmopressin, and, in some locations, fresh frozen plasma (FFP). With timely diagnosis and appropriate management of the VWD, the burden of the disorder can be alleviated or even eliminated.
|Title of host publication||Congenital bleeding disorders|
|Subtitle of host publication||Diagnosis and management|
|Place of Publication||Cham, Switzerland|
|Number of pages||46|
|Publication status||E-pub ahead of print - 26 Jul 2018|