DOCUMENTI - Documents
Volume:
Biochimica Clinica 2020; 44(1) 073-085
Pubblicato on-line:
October 15, 2019
DOI:
10.19186/BC_2019.057
Raccomandazioni per la diagnosi di laboratorio della malattia di von Willebrand
Recommendations for the laboratory diagnosis of von Willebrand disease
AUTORI
1Synlab Castenedolo, Castenedolo, Brescia
2Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano
ABSTRACT
Recommendations for the laboratory diagnosis of von Willebrand disease
Von Willebrand disease (VWD) is the most common inherited bleeding disorder. Clinically, VWD induces mucosal bleeding caused by a decreased quantity or quality of von Willebrand factor (VWF). Diagnosis of VWD requires careful consideration of patient specific factors, bleeding symptoms, and laboratory results. There is no single diagnostic test for VWD; laboratory diagnosis requires a number of assays of VWF amount and function, and factor VIII activity, with no single straightforward diagnostic test available up to know to either confirm or exclude the diagnosis. The currently available laboratory testing for VWD is imperfect, but if accompanied by an attentive and careful interpretation provides significant clinical utility by categorizing affected patients by type of VWD. As the diagnosis of VWD variants has implications fort reatment, laboratory testing is therefore critical for optimising patient care. Newer assays of VWF function are becoming available and will be of great help in establishing the laboratory diagnosis of VWD.
