Open AccessThe role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease
Author(s) -
Veronica H. Flood,
Jéssica Garcia,
Sandra L. Haberichter
Publication year - 2019
Publication title -
current opinion in hematology/current opinion in hematology, with evaluated medline
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.295
H-Index - 97
eISSN - 1080-8213
pISSN - 1065-6251
DOI - 10.1097/moh.0000000000000524
Subject(s) - von willebrand disease , von willebrand factor , disease , etiology , genetics , pathogenesis , immunology , medicine , biology , platelet
Von Willebrand disease (VWD) is a common bleeding disorder, but diagnosis of VWD is challenging, particularly with type 1 VWD. Although most clinicians use specific tests of von Willebrand factor (VWF) activity to classify patients with VWD, genetic testing for VWF defects is another potential method of diagnosis.