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lüll Reduced von Willebrand factor survival in von Willebrand disease: pathophysiologic and clinical relevance Castaman G; Tosetto A; Rodeghiero FJ Thromb Haemost 2009[Jul]; 7 Suppl 1 (ä): 71-4Von Willebrand disease (VWD) is characterized by a wide heterogeneity of clinical and laboratory phenotypes. The complexity of the phenotype is further increased by a highly variable removal rate of von Willebrand factor (VWF) released by desmopressin, which is independent of post-infusion peak level. After the initial demonstration that a reduced VWF survival is present in patients with R1205H mutation (VWD Vicenza), several other mutations, mostly occurring in the VWF D3 domain, have been shown to be associated with accelerated removal of released VWF. Normal subjects with O blood group show reduced survival after desmopressin, underlining the role of different VWF glycosylation present in ABO blood group. Recent evidence suggests that liver and spleen macrophages are responsible for VWF clearance through uptake and endocellular degradation, but it is still not known why some VWF mutants are more prone to increased clearance.|ABO Blood-Group System[MESH]|Deamino Arginine Vasopressin/pharmacology[MESH]|Humans[MESH]|Mutation[MESH]|von Willebrand Diseases/blood/genetics/*metabolism[MESH]|von Willebrand Factor/genetics/*metabolism[MESH] |