title: [A family of congenital combined deficiency of factor V and von Willebrand factor].
abstract: A family with inherited combined deficiency of factor V and von Willebrand factor (vWF) is reported. Hematological examination of 41 year-old female proband and her younger brother revealed prolonged prothrombin time and Kaolin partial thromboplastin time. The level of both factor V activity and factor V antigen markedly decreased, below 15% of normal. The decreased levels of factor VIII activity and vWF activity are also seen. Furthermore, abnormal mobilities were observed in crossed immunoelectrophoresis. The protein C, S antigens and activities, and protein C inhibitor activity were within normal. Four sons have received the 50% levels of factor V from their parents. One of them also showed the 50% of factor VIII and vWF activities. From above results, this family is thought to be a case of inherited deficiency of factor V and vWF, which are transmitted as an autosomal trait apparently.
authors.affiliation: Third Department of Internal Medicine, Tohoku University, School of Medicine.
authors.forename: Y
authors.initials: Y
authors.lastname: Akutsu
authors.forename: K
authors.initials: K
authors.lastname: Mori
authors.forename: S
authors.initials: S
authors.lastname: Suzuki
authors.forename: K
authors.initials: K
authors.lastname: Sugai
authors.forename: M
authors.initials: M
authors.lastname: Ishikawa
authors.forename: H
authors.initials: H
authors.lastname: Sakai
authors.forename: E
authors.initials: E
authors.lastname: Endo
authors.forename: H
authors.initials: H
authors.lastname: Yasuda
mesh_terms: D000328:Adult; D001780:Blood Coagulation Tests; D005166:Factor V Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D014842:von Willebrand Diseases / Q000097:blood / Q000235:genetics*