Von Willebrand disease type 2N: An update

Omid Seidizadeh, Flora Peyvandi, Pier Mannuccio Mannucci

Research output: Contribution to journalReview articlepeer-review

Abstract

Quantitative or qualitative defects of von Willebrand factor (VWF) are responsible for the most common inherited bleeding disorder, von Willebrand disease (VWD). Type 2N VWD is an uncommon recessive disorder that results from gene mutations located in the region coding for the binding site of VWF for factor VIII (FVIII). This narrative review describes the pathophysiology, diagnostic procedures and treatment as well as the molecular biology of type 2N VWD. Although other VWF-dependent functions like binding to platelets and collagen are preserved, FVIII plasma levels are low due to the rapid clearance of this moiety in the absence or reduction of its binding to VWF. The diagnosis of type 2N should be considered in patients with low FVIII coagulant activity (FVIII:C) and disproportionally higher VWF antigen, especially when they present with an autosomal recessive pattern of inheritance. Because an accurate diagnosis is essential for genetic counseling and optimal treatment, type 2N must be distinguished from mild/moderate hemophilia A and its carrier state. This differential diagnosis can be obtained by using the laboratory assay of the FVIII binding capacity of VWF (VWF:FVIIIB) or analysis of the FVIII binding site on the VWF gene.

Original languageEnglish
Pages (from-to)909-916
Number of pages8
JournalJournal of Thrombosis and Haemostasis
Volume19
Issue number4
DOIs
Publication statusPublished - Apr 2021

Keywords

  • factor VIII
  • factor VIII binding
  • gene mutation
  • von Willebrand factor

ASJC Scopus subject areas

  • Hematology

Fingerprint

Dive into the research topics of 'Von Willebrand disease type 2N: An update'. Together they form a unique fingerprint.

Cite this