Combined factor V and factor VII deficiency. Report of a case with a record on combined defects and considerations on the relevance of partial deficiency of coagulation factors

Acta Haematol. 1983;69(2):117-22. doi: 10.1159/000206867.

Abstract

A patient suffering from cardiochalasia was found to be partially deficient in both coagulation factors V and VII. No bleeding tendency had been noticed. A family study showed that the father had factor VII deficiency with normal factor V, while the mother and 2 sisters had a reduced level of factor V and normal factor VII. Thus, the combined deficiency was due to chance association of two distinct independently segregating genetic defects. While a number of combinations of coagulation factor deficiency have been previously described, this, to be best of our knowledge, is the first instance of combined deficiency of factor V and VII reported so far.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Factor V Deficiency / blood
  • Factor V Deficiency / complications*
  • Factor V Deficiency / genetics
  • Factor VII Deficiency / blood
  • Factor VII Deficiency / complications*
  • Factor VII Deficiency / genetics
  • Female
  • Humans
  • Male
  • Pedigree
  • Prothrombin Time