Undetected factor VIII in a patient with type 3 von Willebrands disease mistaken as severe haemophilia A.
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.
Mullah-Ali
A M
AM
Department of Pediatric Hematology-Oncology, McMaster University, Hamilton, ON, Canada.
Chan
A K
AK
Lillicrap
D
D
Decker
K
K
Seroski
W
W
Moffat
K
K
Walker
I
I
Pai
M K
MK
D002944:Circumcision, Male / Q000009:adverse effects; D003951:Diagnostic Errors; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics*; D006490:Hemostatics / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D019106:Postoperative Hemorrhage / Q000188:drug therapy / Q000235:genetics*; D056729:von Willebrand Disease, Type 3 / Q000097:blood* / Q000175:diagnosis / Q000235:genetics; D014841:von Willebrand Factor / Q000378:metabolism*
D006490:Hemostatics; D014841:von Willebrand Factor; D005169:Factor VIII