Thrombophilia and Screening in Family Medicine Practice

Thrombophilia encompasses a group of inherited or acquired disorders that predispose individuals to thrombotic events. The identification of these individuals is essential to guide appropriate management strategies and reduce the risk of complications and the associated increased healthcare costs and mortality. Venous thromboembolism (VTE), encompassing deep vein thrombosis (DVT) and pulmonary embolism (PE), represents a major global health concern due to its substantial morbidity and mortality rates. General practitioners (GPs) play a vital role in the assessment and initial screening of patients for thrombophilia, as they perform their activities at the entrance of the health care system - in primary care. In addition, they serve a heterogeneous group of patients - from newborns to pregnant women and adults, knowing their risk factors and underlying diseases well. In general practice, an enduring doctor-patient relationship is usually established and the medical history is documented and well known, making it possible to carry out screening initiated in general practice with great success. The most common genetic defects that lead to thrombophilia are Factor V Leiden mutation, Prothrombin gene mutation, Protein C deficiency, Protein S deficiency, Antithrombin deficiency. Multiple acquired conditions have also been linked with an increased predisposition towards VTE development, including oral contraceptive use, hormone replacement therapy (HRT), pregnancy, postpartum period and malignancy. Thrombophilia screening in general practice should be guided by clear indications to identify individuals at increased risk of thrombotic events.