The role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease. Curr Opin Hematol 2019 Sep;26(5):331-335
Date
07/02/2019Pubmed ID
31261173Pubmed Central ID
PMC6727843DOI
10.1097/MOH.0000000000000524Scopus ID
2-s2.0-85070848175 (requires institutional sign-in at Scopus site) 8 CitationsAbstract
PURPOSE OF REVIEW: 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.
RECENT FINDINGS: Studies of patients with type 1 VWD report consistently that many, but not all, study participants have VWF gene defects. Certain populations, including those with VWF levels less than 30 IU/dl and those with clearance defects, are more likely to have a VWF sequence variant. In addition, a number of loci outside the VWF gene have been shown to affect VWF levels, including ABO, CLEC4M, STXBP5, and STAB2.
SUMMARY: Genetic defects in VWF are common, but not all defects lead to disease. Type 1 VWD in particular does not always have an associated VWF sequence variant. New data stemming from genome-wide association studies on modifier genes suggest that the etiology of type 1 VWD is multifactorial.
Author List
Flood VH, Garcia J, Haberichter SLAuthor
Veronica H. Flood MD Interim Chief, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Humansvon Willebrand Disease, Type 1
von Willebrand Factor