The role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease

Veronica H. Flood, Jessica Garcia, Sandra L. Haberichter

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)331-335
Number of pages5
JournalCurrent opinion in hematology
Volume26
Issue number5
DOIs
StatePublished - Sep 1 2019

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Type 1 von Willebrand Disease
von Willebrand Factor
von Willebrand Diseases
Modifier Genes
Genome-Wide Association Study
Genetic Testing
Genes

ASJC Scopus subject areas

  • Hematology

Cite this

The role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease. / Flood, Veronica H.; Garcia, Jessica; Haberichter, Sandra L.

In: Current opinion in hematology, Vol. 26, No. 5, 01.09.2019, p. 331-335.

Research output: Contribution to journalArticle

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