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No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation. Blood 2013 May 02;121(18):3742-4

Date

03/23/2013

Pubmed ID

23520336

Pubmed Central ID

PMC3643771

DOI

10.1182/blood-2012-12-471672

Scopus ID

2-s2.0-84879719268 (requires institutional sign-in at Scopus site)   33 Citations

Abstract

The diagnosis of von Willebrand disease (VWD) is complicated by issues with current laboratory testing, particularly the ristocetin cofactor activity assay (VWF:RCo). We have recently reported a sequence variation in the von Willebrand factor (VWF) A1 domain, p.D1472H (D1472H), associated with a decrease in the VWF:RCo/VWF antigen (VWF:Ag) ratio but not associated with bleeding in healthy control subjects. This report expands the previous study to include subjects with symptoms leading to the diagnosis of type 1 VWD. Type 1 VWD subjects with D1472H had a significant decrease in the VWF:RCo/VWF:Ag ratio compared with those without D1472H, similar to the findings in the healthy control population. No increase in bleeding score was observed, however, for VWD subjects with D1472H compared with those without D1472H. These results suggest that the presence of the D1472H sequence variation is not associated with a significant increase in bleeding symptoms, even in type 1 VWD subjects.

Author List

Flood VH, Friedman KD, Gill JC, Haberichter SL, Christopherson PA, Branchford BR, Hoffmann RG, Abshire TC, Dunn AL, Di Paola JA, Hoots WK, Brown DL, Leissinger C, Lusher JM, Ragni MV, Shapiro AD, Montgomery RR

Authors

Brian Branchford MD Associate Professor in the Pediatrics department at Medical College of Wisconsin
Veronica H. Flood MD Chief, Professor in the Pediatrics 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

Amino Acid Substitution
Aspartic Acid
Case-Control Studies
Hemorrhage
Histidine
Humans
Incidence
Mutation, Missense
Research Design
Severity of Illness Index
von Willebrand Disease, Type 1
von Willebrand Factor