Hereditary hemorrhagic telangiectasia, factor V Leiden and antiphospholipid syndrome: a case report

Blood Coagul Fibrinolysis. 2002 Jan;13(1):53-6. doi: 10.1097/00001721-200201000-00008.

Abstract

We report on a 57-year-old woman with three episodes of ischemic strokes and hereditary hemorrhagic telangiectasia (HHT). Tests for inherited and acquired thrombophilia showed elevated anticardiolipin immunoglobulin (Ig)M antibodies (on three separate occasions), anti-prothrombin IgG antibodies, and the heterozygous form of factor V Leiden. This is the first case of HHT, a primary antiphospholipid syndrome, combined with factor V Leiden. No detectable arteriovenous malformation was found and ischemic episodes, documented by computer tomography, were related to the presence of antiphospholipid antibodies and possibly the carriership of factor V Leiden mutation. Since aspirin provoked severe nasal hemorrhages, treatment with ticlopidine was initiated after the third stroke. Over an 18-month follow-up, ischemic episodes were absent and we regarded oral anticoagulation as unjustifiable.

Publication types

  • Case Reports

MeSH terms

  • Antibodies, Anticardiolipin / blood
  • Antiphospholipid Syndrome / complications*
  • Antiphospholipid Syndrome / immunology
  • Autoantibodies / blood
  • Factor V*
  • Female
  • Humans
  • Ischemia / etiology
  • Middle Aged
  • Pedigree
  • Platelet Aggregation Inhibitors / administration & dosage
  • Prothrombin / immunology
  • Stroke / etiology
  • Telangiectasia, Hereditary Hemorrhagic / complications*
  • Thrombophilia / complications*
  • Thrombophilia / genetics
  • Ticlopidine / administration & dosage
  • Treatment Outcome

Substances

  • Antibodies, Anticardiolipin
  • Autoantibodies
  • Platelet Aggregation Inhibitors
  • factor V Leiden
  • Factor V
  • Prothrombin
  • Ticlopidine