[Von Willebrand disease : diagnosis and management].
Von Willebrand's disease is an inherited bleeding disorder with a prevalence as high as 1% in the general population. The disease is caused by the quantitative deficiency or dysfunction of von Willebrand factor (VWF), a large multimeric glycoprotein. VWF has two main functions in hemostasis: it is essential for platelet-plug formation as an adhesion protein and it forms a non-covalent complex with coagulation factor VIII in plasma, thereby protecting it from inactivation and clearance. Inherited Von Willebrand's disease has been subdivided into 3 categories that reflect pathophysiology: partial quantitative deficiency of VWF (Type 1), qualitative deficiency (Type 2) and total deficiency (Type 3). The major clinical hallmark in Von Willebrand's disease is an increased tendency to mucocutaneous bleeding. Increased bleeding may also occur in sites such as muscles and joints when the level of factor VIII is particularly low. The mainstays of therapy are desmopressin, which induces secretion of autologous factor VIII and VWF into plasma, and plasma concentrates, which supply allogenic forms of these moieties. Other forms of treatment can be considered as adjunctive to these.
Antony
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Klinik für Anästhesiologie, Universitätsklinikum der RWTH Aachen, Pauwelsstr. 30, 52074 Aachen, Deutschland. cantony@ukaachen.de
Rossaint
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R
Schaelte
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G
D001760:Bleeding Time; D003430:Cross-Sectional Studies; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use; D005169:Factor VIII / Q000235:genetics / Q000378:metabolism / Q000627:therapeutic use; D005260:Female; D006580:Genetic Carrier Screening; D005838:Genotype; D005858:Germany; D006490:Hemostatics / Q000627:therapeutic use; D006801:Humans; D008297:Male; D014842:von Willebrand Diseases / Q000097:blood / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D014841:von Willebrand Factor / Q000235:genetics / Q000627:therapeutic use
D006490:Hemostatics; D014841:von Willebrand Factor; D005169:Factor VIII; D003894:Deamino Arginine Vasopressin