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The role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease. Curr Opin Hematol 2019 09;26(5):331-335

Date

07/02/2019

Pubmed ID

31261173

Pubmed Central ID

PMC6727843

DOI

10.1097/MOH.0000000000000524

Scopus ID

2-s2.0-85070848175   1 Citation

Abstract

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 SL

Author

Veronica H. Flood MD Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Humans
von Willebrand Disease, Type 1
von Willebrand Factor