Getting at the Variable Expressivity of Von Willebrand Disease

Gallia Levy; David Ginsburg

doi:10.1055/s-0037-1616211

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 2001; 86(01): 144-148
DOI: 10.1055/s-0037-1616211

Research Article

Schattauer GmbH

Getting at the Variable Expressivity of Von Willebrand Disease

Autoren

Gallia Levy

⁴Departments of Program in Cellular and Molecular Biology, University of Michigan, Ann Arbor, MI, USA
David Ginsburg

¹Howard Hughes Medical Institute, University of Michigan, Ann Arbor, MI, USA

²Departments of Internal Medicine, University of Michigan, Ann Arbor, MI, USA

³Departments of Human Genetics, University of Michigan, Ann Arbor, MI, USA

⁴Departments of Program in Cellular and Molecular Biology, University of Michigan, Ann Arbor, MI, USA

Abstract

Summary

Von Willebrand disease (VWD) is a heterogeneous bleeding disorder caused by abnormalities of von Willebrand factor (VWF). VWF levels vary widely in the general population, and this variation is likely to be a major factor accounting for the incomplete penetrance and variable expressivity of VWD. In addition, variation in VWF level may play an important role in determining the risk of venous thrombosis. A large component of the variation in VWF level in the general population has been shown to be attributable to genetic factors. This review will focus on the current understanding of the genetic causes for variation in VWF level, and will highlight future directions for getting at the variable expressivity of von Willebrand disease.

Key words

Von Willebrand factor - von Willebrand disease - variable expressivity - ABO blood group - thrombosis

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Referenzen

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