Fabry disease and Factor V Leiden: a potent vascular risk combination

Intern Med J. 2011 May;41(5):422-6. doi: 10.1111/j.1445-5994.2011.02483.x.

Abstract

A 45-year-old man with heterozygous Factor V Leiden presented with his third cerebrovascular accident despite being on warfarin at a therapeutic international normalized ratio. Subsequent investigation revealed a second genetic diagnosis of Fabry disease. He then had an acute myocardial infarction whilst on aspirin and warfarin.

Publication types

  • Case Reports

MeSH terms

  • Activated Protein C Resistance / genetics*
  • Aspirin / therapeutic use
  • Atorvastatin
  • Coronary Stenosis / complications
  • Coronary Stenosis / therapy
  • Defibrillators, Implantable
  • Drug Therapy, Combination
  • Enzyme Replacement Therapy
  • Fabry Disease / complications*
  • Factor V / genetics*
  • Heptanoic Acids / therapeutic use
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use
  • Hypercholesterolemia / complications
  • Hypercholesterolemia / drug therapy
  • Male
  • Metoprolol / therapeutic use
  • Middle Aged
  • Perindopril / therapeutic use
  • Pyrroles / therapeutic use
  • Quality of Life
  • Recurrence
  • Sequence Deletion
  • Stents
  • Stroke / drug therapy
  • Stroke / etiology
  • Stroke / genetics
  • Stroke / prevention & control
  • Stroke Rehabilitation
  • Thrombophilia / etiology*
  • Thrombophilia / genetics
  • Warfarin / therapeutic use
  • alpha-Galactosidase / blood
  • alpha-Galactosidase / genetics

Substances

  • Heptanoic Acids
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • Pyrroles
  • factor V Leiden
  • Warfarin
  • Factor V
  • Atorvastatin
  • alpha-Galactosidase
  • Metoprolol
  • Aspirin
  • Perindopril