Coronary artery disease associated with factor V Leiden mutation: a case report

The prevalence of coronary artery disease in young adults (<45 years of age) has been increasing steadily in recent decades. Although traditional cardiovascular risk factors can be identified in most cases, newly recognized associations are becoming progressively more relevant. The relationship between the factor V Leiden mutation and atherosclerosis has been a matter of debate due to conflicting data presented in previous studies. Presently described is the case of a previously asymptomatic 37-year-old woman with a significant family history of coronary artery disease who developed rapidly progressive angina within 1 month. After a positive non-invasive evaluation, coronary angiography demonstrated a significant obstruction in the proximal left anterior descending artery. Optical coherence tomography revealed a highly vulnerable lipid-rich atherosclerotic plaque. Coronary angioplasty followed by the implantation of 1 drug-eluting stent was successfully performed. A subsequent thrombophilia screening identified a heterozygous factor V R506Q mutation (factor V Leiden). Since there was no history of thromboembolic events, the patient was discharged using only aspirin, clopidogrel, atorvastatin, and atenolol. Further studies are needed to define the most appropriate management of young patients who manifest clinically significant atherosclerotic disease in association with hereditary thrombophilia.