Avaliação do perfil clínico e laboratorial de pacientes investigados para trombofilias hereditárias e adquiridas em hospital de referência no sudeste do Brasil e da aplicação no serviço das diretrizes vigentes

Abstract

Introduction: Thrombophilias are multifactorial hereditary or acquired disorders associated with an increased predisposition to thrombosis. The 2023 American Society of Hematology Guidelines for the Management of Venous Thromboembolism recommend thrombophilia testing only in specific clinical situations and limited to the most common hereditary thrombophilias—factor V Leiden, the prothrombin G20210A mutation, and deficiencies of antithrombin and proteins C and S—and, among acquired conditions, testing for antiphospholipid syndrome (APS). Objective: To evaluate the clinical profile, the correlation between diagnoses and comorbidities, clinical outcomes, and adherence to guidelines in thrombophilia investigations. Materials and Methods: This was a primary, observational, retrospective cohort study, with data collected from electronic medical records of patients investigated for thrombophilias at the Hematology outpatient clinic of the Federal University of the Triângulo Mineiro between January 2015 and December 2021. Results: A total of 460 patients were investigated, predominantly female and younger than 50 years. The most frequent referral reason was venous thrombosis at a young age, with obstetric indications also being prominent. At least one cardiovascular risk factor was identified in 248 patients (53.9%), and at least one comorbidity in 256 patients (55.6%). Thrombophilia diagnoses were confirmed in 133 patients (28.9%), with APS being the most prevalent (17.4%). Hereditary thrombophilias accounted for 60 cases (13.04%), most commonly factor V Leiden (6.1%) and the prothrombin mutation (3.7%). Deficiencies of endogenous anticoagulants—protein C, protein S, and antithrombin III—showed prevalences of 2.0% (9 cases), 1.1% (5 cases), and 0.2% (1 case), respectively. Adherence to guideline recommendations was low, with only 31.5% of cases being compliant. Discussion: The higher prevalence of women is explained by the large number of obstetric referrals, resulting in a high proportion of APS diagnoses. The high prevalence of cardiovascular risk factors may act as an attribution bias, potentially overestimating the role of thrombophilias as the etiology of thromboembolic events. Another limitation is the low adherence to guidelines, particularly regarding hereditary thrombophilias without confirmatory testing, which may explain the low prevalence of endogenous anticoagulant deficiencies observed. Conclusion: This study successfully characterized the clinical profile of patients undergoing thrombophilia investigation and identified significant shortcomings in guideline adherence, suggesting indiscriminate testing with a low diagnostic confirmation rate.