title: Therapeutic consequences for misdiagnosis of type 2N von Willebrand disease.
abstract: 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.
authors.affiliation: Division of Hematology/Oncology, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Madhu
authors.initials: M
authors.lastname: Gupta
authors.forename: David
authors.initials: D
authors.lastname: Lillicrap
authors.forename: Ann Marie
authors.initials: AM
authors.lastname: Stain
authors.forename: Kenneth D
authors.initials: KD
authors.lastname: Friedman
authors.forename: Manuel D
authors.initials: MD
authors.lastname: Carcao
mesh_terms: D002648:Child; D002675:Child, Preschool; D005169:Factor VIII / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D008297:Male; D011994:Recombinant Proteins / Q000627:therapeutic use; D056728:von Willebrand Disease, Type 2 / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics
chemical_list: D011994:Recombinant Proteins; D005169:Factor VIII