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Hamostaseologie. 2020 Feb;40(1):105-118. doi: 10.1055/s-0039-3400260. Epub 2020 Jan 22.

The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.

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1
Institute of Experimental Haematology and Transfusion Medicine, University Clinics Bonn, Bonn, NRW, Germany.

Abstract

in English, German

Von Willebrand disease (VWD), the most prevalent congenital bleeding disorder, arises from deficiencies in quantity or quality of von Willebrand factor (VWF). The quantitative deficiencies of VWF are considered to be either VWD type 1 (mild/moderate reduction of VWF) or type 3 (virtual absence of VWF). Following cloning of the VWF gene (VWF) in the 1980s, significant progress has been made in our understanding of the pathogenesis of VWD. The genetic basis of type 3 VWD is well defined. VWF causative variations comprising predominantly null alleles have been identified in more than 85% of cases. In contrast, the molecular mechanisms in type 1 disease are only partially characterized. The VWF sequence variations, including mostly missense alterations, are found in only approximately 65% of type 1 VWD patients. It appears that genetic elements outside of VWF may contribute to the pathophysiology of type 1 VWD. This review discusses in detail the current understandings of the genetic basis and molecular mechanisms causing quantitative deficiencies of VWF.

PMID:
31968368
DOI:
10.1055/s-0039-3400260

Conflict of interest statement

Dr. Oldenburg reports grants and personal fees from Bayer, grants and personal fees from Biotest, personal fees from Chugai, grants and personal fees from CSL Behring, personal fees from Grifols, grants and personal fees from Novo Nordisk, grants and personal fees from Octapharma, personal fees from Pfizer, personal fees from Roche, personal fees from SOBI, grants and personal fees from Shire, outside the submitted work. Personal fees were received for travel support, participation in advisory boards, and participating in symposia as chair or speaker.

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