Von Willebrand factor propeptide makes it easy to identify the shorter Von Willebrand factor survival in patients with type 1 and type Vicenza von Willebrand disease

• Published in: British journal of haematology 2008-10, Vol.143 (1), p.107-114
• Main Authors: Sztukowska, M., Gallinaro, L., Cattini, M. G., Pontara, E., Sartorello, F., Daidone, V., Padrini, R., Pagnan, A., Casonato, A.
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Case-Control Studies; Deamino Arginine Vasopressin; DNA Mutational Analysis; Half-Life; Hematologic and hematopoietic diseases; Hemostatics; Humans; Medical sciences; Mutation; Platelet diseases and coagulopathies; Protein Precursors - genetics; Protein Precursors - metabolism; type Vicenza VWD; von Willebrand disease; von Willebrand Diseases - blood; von Willebrand Diseases - classification; von Willebrand Diseases - genetics; von Willebrand factor; von Willebrand Factor - analysis; von Willebrand Factor - genetics; von Willebrand Factor - metabolism; VWF propeptide ratio; VWF survival
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1111/j.1365-2141.2008.07311.x

Summary Reduced von Willebrand factor (VWF) half‐life has been suggested as a new pathogenic mechanism in von Willebrand disease (VWD). The usefulness of VWF propeptide (VWFpp) in exploring VWF half‐life was assessed in 22 type 1 and 14 type Vicenza VWD patients, and in 30 normal subjects, by comparing the findings on post‐Desmopressin (DDAVP) VWF t1/2 elimination (t1/2el). The VWFpp/VWF antigen ratio (VWFpp ratio) was dramatically increased in type Vicenza VWD (13·02 ± 0·49) when compared to normal subjects (1·45 ± 0·06), whereas it appeared to be normal in all type 1 VWD patients (1·56 ± 0·7), except for the four carrying the C1130F mutation (4·69 ± 0·67). A very short VWF t1/2el was found in type Vicenza VWD (1·3 ± 0·2 h), while all type 1 VWD patients had a t1/2el similar to that of the controls (11·6 ± 1·4 and 15·4 ± 2·5 h respectively), except for the four patients carrying the C1130F mutation, who had a significantly shorter VWF survival (4·1 ± 0·2 h). A significant inverse correlation emerged between VWFpp ratio and VWF t1/2el in both VWD patients and normal subjects. The VWFpp ratio thus seemed very useful for distinguishing between type 1 VWD cases with a normal and a reduced VWF survival, as well as for identifying type Vicenza VWD.