title: Distinguishing types 1 and 2M von Willebrand disease.
abstract: Discrimination of types 1 and 2M von Willebrand disease (VWD) is problematic. Type 1 VWD represents a quantitative deficiency of von Willebrand factor and type 2M a qualitative disorder. 2M VWD is considered a potentially more serious bleeding disorder than type 1 VWD and may also require a differential management approach given the higher bleeding risk and that desmopressin may be less effective. We describe a case of 2M VWD 'masquerading' as type 1 and show how the differential diagnosis can be obtained using standard laboratory assays. The case was genetically confirmed as a 3943C>T mutation, leading to R1315C.
authors.affiliation: Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), Westmead Hospital, Westmead, NSW, Australia. emmanuel.favaloro@swahs.health.nsw.gov.au
authors.forename: E J
authors.initials: EJ
authors.lastname: Favaloro
authors.forename: C
authors.initials: C
authors.lastname: Forsyth
authors.forename: J
authors.initials: J
authors.lastname: Koutts
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D056725:von Willebrand Disease, Type 1 / Q000175:diagnosis* / Q000235:genetics; D056728:von Willebrand Disease, Type 2 / Q000175:diagnosis* / Q000235:genetics; D014841:von Willebrand Factor / Q000235:genetics
chemical_list: D014841:von Willebrand Factor