Therapeutic consequences for misdiagnosis of type 2N von Willebrand disease. Pediatr Blood Cancer 2011 Dec 01;57(6):1081-3
Date
03/23/2011Pubmed ID
21425451DOI
10.1002/pbc.23120Scopus ID
2-s2.0-80052680438 (requires institutional sign-in at Scopus site) 19 CitationsAbstract
Patients presenting with a low FVIII:C and with normal VWF levels are usually presumed to have hemophilia (males) or be carriers for hemophilia (females). Some of these patients may instead have VWD:2N. Such patients if misdiagnosed are likely to suffer from insufficiently treated bleeds. We report 2 males and 1 female who presented with a low FVIII:C (1-21%) and minimally reduced/normal VWF and were assumed to have, or be a carrier for, hemophilia A. Eventually all were found to have VWD:2N. Prior to the correct diagnosis the males had been treated with rFVIII with poor responses and ultimately adverse clinical consequences.
Author List
Gupta M, Lillicrap D, Stain AM, Friedman KD, Carcao MDAuthor
Kenneth D. Friedman MD Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
ChildChild, Preschool
Factor VIII
Female
Humans
Male
Recombinant Proteins
von Willebrand Disease, Type 2
