Coexistence of familial antiphospholipid syndrome and factor V Leiden: impact on thrombotic diathesis

Br J Haematol. 1996 Jul;94(1):166-7. doi: 10.1046/j.1365-2141.1996.d01-1757.x.

Abstract

Two young siblings who presented with an unusual recurrent severe thromboembolic phenomenon were found to have familial anti-phospholipid syndrome and were heterozygous for the factor V R506Q mutation. The coexistence of hereditary and acquired APC-resistance may explain the severity of thromboembolism.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Spontaneous / etiology
  • Adult
  • Anticoagulants / therapeutic use
  • Antiphospholipid Syndrome / blood
  • Antiphospholipid Syndrome / complications
  • Antiphospholipid Syndrome / genetics*
  • Bone Marrow / blood supply*
  • Factor V / genetics*
  • Female
  • Femoral Artery*
  • Fetal Death
  • Humans
  • Pregnancy
  • Pregnancy Complications, Cardiovascular / etiology*
  • Protein C / antagonists & inhibitors
  • Thromboembolism / blood
  • Thromboembolism / etiology*
  • Thromboembolism / genetics
  • Thrombosis / etiology*

Substances

  • Anticoagulants
  • Protein C
  • Factor V