An Integrative Approach to the Patient with Thrombophilia / SVEOBUHVATNI PRISTUP BOLESNIKU SA TROMBOFILIJOM

Abstract

Summary Venous thromboembolism (VTE) is a multifactorial disease that results from a conjunction of several risk factors, both inherited and acquired. The younger the person, the more risk factors are required to cause the disease. Since 1937, when the term thrombophilia was coined by Nygaard and Brown, and 1965 when it was used for the first time by Egeberg, a substantial increase in the percentage of patients with VTE and underlying thrombophilia has been reported, particularly after the discovery of the most common thrombophilic mutations, FV Leiden and FII G20210A. Presence of thrombophilia could be detected in as many as 50% of all patients with VTE. Thrombophilia testing has increased lately not only in patients with thromboses but also for other indications, however, whether the results will help in the clinical management of the patients is still unclear. Thrombo philia testing is most commonly performed in young patients with VTE, patients with recurrent episodes of VTE or with thromboses at unusual sites and in persons with positive family history. Whether the presence of thrombophilia influences the clinical management of the patient remains controversial. Patients with VTE and the recognized risk factors such are surgery, trauma, immobilization, pregnancy and the puerperium are at very low risk for recurrence, but prediction of the recurrence of VTE based on the presence of thrombophilia has not been sufficiently explored. Presence of clinical risk factors should be integrated in the strategy of VTE risk assessment. Since many risk factors, such as obesity, hypertension, dyslipidemia, diabetes and smoking are common for both arterial and venous thromboses, it has been suggested that VTE should be considered as part of a pancardiovascular syndrome, along with coronary artery disease, peripheral artery disease and cerebrovascular disease. Positive family history for VTE in a first-degree relative increases the risk for VTE occurrence by 2-fold, regardless of the presence of inherited thrombophilia. Pregnancy-related risk of VTE is sixfold in creased compared to nonpregnant age-matched women. Women with thrombophilia have been shown to be at an increased risk not only of pregnancy-associated thromboembolism, but also of other vascular complications, including recurrent fetal loss and intrauterine fetal death. Risk for antepartal pregnancy-related VTE is considerably increased in obese women confined to bed for longer than one week, in women who underwent assisted reproduction, in multiple pregnancies, gestational diabetes and maternal age over 35 years. Postpartal risk factors differ, with eclampsia, emergency cesarian section and placenta praevia being the most important. Testing for thrombophilia generally does not alter the management of a patient with VTE, except for selected groups of patients. Women of fertile age with positive family history and presence of thrombophilia may benefit from thromboprophylaxis implementation during pregnancy, or can make the decision not to use oral contraceptives. In the future, the use of global coagulation tests that could detect a hypercoagulable state, along with other clinical risk factors, might improve VTE risk assessment and optimize the duration of treatment of VTE disease.