title: Precise diagnosis by gene analysis and successful management of delivery in three patients with type IIB von Willebrand disease.
abstract: Type IIB is a rare variant of von Willebrand disease (vWD). An affected individual's bleeding tendency and thrombocytopenia are exacerbated with pregnancy, and the proper management of these patients during delivery has not been well established. Since it is important to distinguish this disease from the platelet type vWD in order to administer the appropriate therapy, gene analysis is necessary to make the precise diagnosis. We now report the successful management of delivery in three patients, who were diagnosed as having type IIB vWD by the detection of missense mutations in the von Willebrand factor (vWF) gene (C3916-->T and C3922-->T). These changes cause Arg543-->Trp and Arg545-->Cys substitutions in the A1 domain of vWF. We were able to manage the bleeding tendency of these patients at delivery mainly with vWF concentrates to supply normal vWF.
authors.affiliation: Department of Internal Medicine, Hiroshima University, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Takafuta
authors.forename: K
authors.initials: K
authors.lastname: Fujimura
authors.forename: T
authors.initials: T
authors.lastname: Shimomura
authors.forename: H
authors.initials: H
authors.lastname: Kawano
authors.forename: Y
authors.initials: Y
authors.lastname: Takimoto
authors.forename: T
authors.initials: T
authors.lastname: Fujimoto
authors.forename: N
authors.initials: N
authors.lastname: Nagai
authors.forename: E
authors.initials: E
authors.lastname: Okamoto
authors.forename: K
authors.initials: K
authors.lastname: Ohama
authors.forename: K
authors.initials: K
authors.lastname: Nakamura
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D036861:Delivery, Obstetric / Q000379:methods; D005260:Female; D006801:Humans; D017354:Point Mutation; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000175:diagnosis*; D011256:Pregnancy Outcome; D014842:von Willebrand Diseases / Q000175:diagnosis* / Q000235:genetics; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D014841:von Willebrand Factor