SCIENTIFIC BACKGROUND

VWF

Category:

SCIENTIFIC BACKGROUND

Von Willebrand disease is a congenital or acquired disorder of the coagulation system caused by quantitative or qualitative alterations of the von Willebrand factor (vWF). Including all mild forms, it is the most common bleeding disorder with a prevalence of approximately 1%. However, clinically symptomatic patients with von Willebrand disease type 1, 2, or 3 occur with a prevalence of only 1:10,000. The major functions of vWF include promotion of platelet adhesion via glycoprotein Ib, which is localized to platelet surfaces, and binding of factor VIII, protecting it from rapid degradation. Platelet adhesion is dependent on the large multimers of vWF.

 

All functions of vWF are affected by variants in the VWF gene, which generally have a quantitative effect on vWF expression. Variants that affect the formation of large multimers only affect vWF function in primary hemostasis. In contrast, when the factor VIII-binding region is defective, function in secondary hemostasis is affected. Quantitative effects are divided into relative reduction (type I) and total absence (type III). Qualitative defects (type II) are very heterogeneous. Identification of specific variants associated with reduced expression of vWF, disruption of post-translational modification, impairment of intracellular transport, or functional defects can reconcile the highly heterogeneous clinical phenotype with genotype. Molecular genetics can help with correct diagnosis and classification, and facilitate the choice of appropriate therapy.

 

References

Casonato et al. 2018, Haemophilia 24:134 / Veyradier et al. 2016, Medicine (Baltimore) 95:e3038 / Kasatkar et al. 2014, PLoS One 9:e92575 / Bowman et al. 2013, J Thromb Haemost 11:512 / Gadisseur et al. 2009, Acta Haematol 121:71 / Goodeve et al. 2007, Blood 109:112 / James et al. 2007, Blood 109:145 / Schneppenheim et al. 2005, Hämostasiologie 25:367 / Schneppenheim et al. 2004, Hämostasiologie 24:37

GENES

VWF

ASSOCIATED TESTS

How to order

LATEST ARTICLES

Every year on April 25th, DNA Day celebrates the discovery of DNA’s double helix and the advances we’ve made in understanding genetics. D...

Read more

Neurodevelopmental disorders (NDDs) have diverse genetic origins, making diagnosis challenging. A new study analyzing over 1,100 pediatric patients f...

Read more

Colorectal cancer (CRC) remains one of the most prevalent and deadly cancers worldwide, with a significant number of cases presenting at an advanced ...

Read more

Carrier screening is a genetic test designed to identify whether an individual carries a gene with changes (mutations) associated with inherited diso...

Read more

Trisomy 13, also known as Patau syndrome, is a genetic condition in which cells in the body have three copies of chromosome 13 instead of two. The co...

Read more

The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A recent study...

Read more

Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many people face a...

Read more

Rosalind Elsie Franklin was a brilliant and meticulous research scientist whose interdisciplinary work made fundamental contributions to various area...

Read more

February, designated as Cancer Awareness Month, marks a time to reflect on the remarkable progress made in cancer research and to inspire hope for th...

Read more

Introduction Cardiovascular disease (CVD) is a major health issue as it remains a leading cause of death worldwide [1]. CVD is responsible for mor...

Read more