[Severe congenital factor V deficiency: case report]

Orv Hetil. 2002 Jan 13;143(2):87-9.
[Article in Hu]

Abstract

Introduction: Congential deficiency of factor V is a rare condition, transmitted in autosomal recessive way. Heterozygote patients generally have no symptoms, homozygotes present with spontaneous and postoperative bleedings. About one-half of patients are diagnosed in adulthood.

Methods: The presented case is a double heterozygote, which was confirmed using moleculare biological methods. The authors found many carriers in his family.

Conclusions: This rare and sometimes severe disorder needs regular haematological controls. Carriers must have more attention during surgical procedures and labour, and the family doctor should be informed about there condition.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Blood Coagulation Tests
  • Diagnosis, Differential
  • Factor V Deficiency / blood
  • Factor V Deficiency / congenital*
  • Factor V Deficiency / diagnosis*
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree