Faculty Collaboration Database

Diagnostic challenges in patients with bleeding phenotype and von Willebrand exon 28 polymorphism p.D1472H. Haemophilia 2014 May;20(3):e211-4

Date

03/04/2014

Pubmed ID

24581275

DOI

10.1111/hae.12384

Scopus ID

2-s2.0-84898920561 (requires institutional sign-in at Scopus site)   6 Citations

Abstract

Exon 28 polymorphism p.D1472H is associated with significantly lower von Willebrand Ristocetin cofactor activity (VWF:RCoF) to von Willebrand antigen (VWF:Ag) ratio compared to normal, but has been reported as not conferring haemorrhagic risk. The impact of this polymorphism while assessing symptomatic patients for von Willebrand disease (VWD) has not been previously analysed. We retrospectively reviewed charts of children with clinically significant bleeding and abnormal VW panel who underwent VW exon 28 analysis. Twenty-three of 63 patients studied had p.D1472H. Of these 23 patients, 6 with borderline low VWF:RCo were given provisional diagnosis of VWD type 1 by treating physicians, which could be alternatively explained as due to the effect of p.D1472H. None of the patients with low VWF:RCo, decreased VWF:RCo/VWF:Ag ratio and p.D1472H had VWD type 2M mutations identified. This study illustrates the challenge in diagnosing VWD using ristocetin-based VW assay in symptomatic patients with p.D1472H.

Author List

Francis JC, Hui SK, Mahoney D Jr, Dietrich JE, Friedman KD, Soundar E, Srivaths LV

Authors

Jessica Francis MD Vice-Chair, Associate Professor in the Obstetrics and Gynecology department at Medical College of Wisconsin
Kenneth D. Friedman MD Professor in the Medicine department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Adolescent
Child
Child, Preschool
Exons
Hemorrhage
Humans
Infant
Phenotype
Polymorphism, Genetic
Retrospective Studies
von Willebrand Diseases
von Willebrand Factor