CARRYING THE 4G ALLELE IN THE GENE (PAI-1) AND ITS ASSOCIATION WITH ACUTE CORONARY SYNDROME IN A YOUNG PATIENT (CLINICAL CASE WITH A LITERATURE REVIEW)

Abstract

Thrombophilia is a haemostatic disease that is associated with excessive thrombosis in the arteries and venous vessels. Depending on its pathogenetic cause, it can be a congenital or acquired condition, or one with a combined and unclear etiology. It represents a disorder of the coagulation and fibrinolytic system, most often leading to thromboembolic complications such as venous thrombosis, pulmonary thromboembolism, acute coronary syndrome, ischemic stroke or unexplained miscarriages whose are 10-12 gestational weeks. The plasminogen activator inhibitor type-1 (PAI-1) is the main physiological inhibitor of the activity of the fibrinolytic system and its increased activity leads to excessive thrombosis. The allelic polymorphism of PAI-1 4G/5G is associated with the plasma concentration of PAI-1, with the 4G allele providing to be an independent risk factor for acute myocardial infarction in young patients, especially in those, whose with smoking, hypertension or a family history of hereditary cardiovascular disease. In this article we present a clinical case of a 50-year-old patient with known risk factor of smoking, presenting clinical and electrocardiographic data for acute myocardial infarction with ST-elevations of the anterior left ventricle, in which molecular genetic testing we detected allelic polymorphism of PAI-1 4G/5G homozygote for the mutant allele proving the presence of thrombophilia,
unknown before.