Undetected factor VIII in a patient with type 3 von Willebrands disease mistaken as severe haemophilia A

A M Mullah-Ali; A K Chan; D Lillicrap; K Decker; W Seroski; K Moffat; I Walker; M K Pai

doi:10.1111/j.1365-2516.2009.02062.x

Undetected factor VIII in a patient with type 3 von Willebrands disease mistaken as severe haemophilia A

Haemophilia. 2009 Nov;15(6):1258-61. doi: 10.1111/j.1365-2516.2009.02062.x. Epub 2009 Jun 26.

Authors

A M Mullah-Ali¹, A K Chan, D Lillicrap, K Decker, W Seroski, K Moffat, I Walker, M K Pai

Affiliation

¹ Department of Pediatric Hematology-Oncology, McMaster University, Hamilton, ON, Canada.

PMID: 19563498
DOI: 10.1111/j.1365-2516.2009.02062.x

Abstract

von Willebrand disease (VWD) type 3 is a rare disorder characterized by absent or <0.1 UmL(-1) of ristocetin cofactor (VWF:RCo), and a very low level of factor VIII (FVIII:C). A total absence of FVIII:C has never been reported in type 3 VWD. This case illustrates the effect of severe von Willebrand factor (VWF) deficiency on the factor VIII level.

Publication types

Case Reports

MeSH terms

Circumcision, Male / adverse effects
Diagnostic Errors*
Factor VIII / genetics*
Female
Genes, Recessive
Genotype
Hemophilia A / diagnosis
Hemophilia A / genetics*
Hemostatics / therapeutic use
Humans
Infant
Male
Pedigree
Postoperative Hemorrhage / drug therapy
Postoperative Hemorrhage / genetics*
von Willebrand Disease, Type 3 / blood*
von Willebrand Disease, Type 3 / diagnosis
von Willebrand Disease, Type 3 / genetics
von Willebrand Factor / metabolism*

Substances

Hemostatics
von Willebrand Factor
Factor VIII