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

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 w...

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Veröffentlicht in:	Internal medicine journal 2011-05, Vol.41 (5), p.422-426
Hauptverfasser:	Tchan, M., Sillence, D.
Format:	Artikel
Sprache:	eng
Schlagworte:	Activated Protein C Resistance - genetics alpha-Galactosidase - blood alpha-Galactosidase - genetics Aspirin - therapeutic use Atorvastatin Calcium Coronary Stenosis - complications Coronary Stenosis - therapy Defibrillators, Implantable Drug Therapy, Combination Enzyme Replacement Therapy Fabry disease Fabry Disease - complications Factor V - genetics Factor V Leiden 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 Stroke - drug therapy Stroke - etiology Stroke - genetics Stroke - prevention & control Stroke Rehabilitation Thrombophilia - etiology Thrombophilia - genetics Warfarin - therapeutic use
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Beschreibung
Zusammenfassung:	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.
ISSN:	1444-0903 1445-5994
DOI:	10.1111/j.1445-5994.2011.02483.x