[A family of congenital combined deficiency of factor V and von Willebrand factor]

Rinsho Ketsueki. 1990 Mar;31(3):365-70.
[Article in Japanese]

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Blood Coagulation Tests
  • Factor V Deficiency / blood
  • Factor V Deficiency / genetics*
  • Female
  • Humans
  • von Willebrand Diseases / blood
  • von Willebrand Diseases / genetics*