Primary thrombophilias: hypercoagulability and thrombosis

Abstract

Introduction: hereditary thrombophilias are a group of disorders with an autosomal dominant pattern. The most frequent include antithrombin III, protein C and protein S deficiency, factor V Leiden, prothrombin gene mutation (G20210A) and methylenetetrahydrofolate reductase (MTHFR) enzyme mutations. These alterations increase the risk of thrombosis, affecting normal hemostasis.

Objectives: to point out the hereditary nature of thrombophilias and their clinical impact; to evaluate the prevalence and clinical manifestations of these conditions; to highlight the importance of early detection of predisposing factors to adequate treatment of thrombotic episodes, prevent recurrences and reduce morbidity and mortality.

Information acquisition: a critical review of the updated medical literature in databases such as PubMed, Scielo, Elsevier and Scopus was performed, focusing on the pathogenesis, classification and clinical manifestations of hereditary thrombophilias, with special attention to genetic mutations and their clinical implications.

Development: thrombophilia, whether congenital or acquired, increases the risk of thrombosis. Hereditary thrombophilias account for 40-60% of the causes of thrombosis and are due to alterations in key coagulation proteins. Mutations recognized in recent years suggest that new hereditary factors will be discovered in the future.

Conclusions: hereditary thrombophilias are rare and difficult to diagnose. A detailed family history and an accurate clinical evaluation are essential for their effective management.