[A family of congenital combined deficiency of factor V and von Willebrand factor].
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.
Akutsu
Y
Y
Third Department of Internal Medicine, Tohoku University, School of Medicine.
Mori
K
K
Suzuki
S
S
Sugai
K
K
Ishikawa
M
M
Sakai
H
H
Endo
E
E
Yasuda
H
H
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*