title: Identification and prevalence of von Willebrand disease type 2N (Normandy) in Australia.
abstract: We report an investigation of type 2N von Willebrand disease (VWD), covering the past 7 years and evaluating 1031 plasma samples from over 500 patients. Samples included specific requests for investigation of possible type 2N VWD (including family studies) and samples from 'hemophilia' or nonspecified VWD investigations that could unknowingly be type 2N VWD. In total, 13 new patients with type 2N VWD were identified, four of whom initially presented with normal levels of factor VIII and only three of whom (i.e. 23%) derived from specific clinical requests for investigation of type 2N VWD. Furthermore, type 2N VWD was excluded in 91% of specific clinical requests for type 2N VWD investigations. Poststudy evaluation indicates that type 2N VWD in this geographic region has an incidence rate similar to that in other westernized regions, accounting for around 1-2% of all identified VWD cases and about 13% of all type 2 VWD cases. In conclusion, this study highlights that clinicians requesting laboratory investigations related to a bleeding tendency often fail to appropriately recognize the possibility of type 2N VWD, that a normal plasma factor VIII will not exclude type 2N VWD, and although a relatively uncommon form of VWD overall, type 2N VWD represents a significant qualitative disorder.
authors.affiliation: Department of Haematology, Institute of Clinical Pathology and Medical Research, Westmead Hospital, Westmead, New South Wales, Australia. emmanuel.favaloro@swahs.health.nsw.gov.au
authors.forename: Emmanuel J
authors.initials: EJ
authors.lastname: Favaloro
authors.forename: Soma
authors.initials: S
authors.lastname: Mohammed
authors.forename: Jerry
authors.initials: J
authors.lastname: Koutts
mesh_terms: D001315:Australia / Q000453:epidemiology; D005169:Factor VIII / Q000032:analysis; D006801:Humans; D008403:Mass Screening; D015995:Prevalence; D014842:von Willebrand Diseases / Q000453:epidemiology*
chemical_list: D005169:Factor VIII