Premium
Diagnostic challenges in patients with bleeding phenotype and von Willebrand exon 28 polymorphism p.D1472H
Author(s) -
Francis J. C.,
Hui S.K.,
Mahoney D.,
Dietrich J. E.,
Friedman K. D.,
Soundar E.,
Srivaths L. V.
Publication year - 2014
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/hae.12384
Subject(s) - medicine , von willebrand disease , exon , gastroenterology , polymorphism (computer science) , von willebrand factor , immunology , genotype , gene , genetics , platelet , biology
Summary Exon 28 polymorphism p.D1472H is associated with significantly lower von Willebrand Ristocetin cofactor activity ( VWF : RC oF) 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 : RC o 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 : RC o, decreased VWF : RC o/ 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.