Thrombophilia Testing in Patients with Venous Thrombosis

Abstract

The presence of one or more markers of thrombophilia was significantly higher in this patient population compared to reports from other centres. This study identified 18/166 (10.8%; 95% CI, 6-16%) with more than one defect where life-long anticoagulation might be considered. The results in this subset of patients as well as the serious defects found in some patients with provoked DVT, isolated CVT or isolated SVT demonstrate the value of this screening program to both these patients and their blood relatives. On the other hand, this is a small series from a referral practice where the incidence of these defects is greater than one would expect in the general population. These studies are preliminary and it is not recommended that all VTE patients should be screened on the basis of the current report.

The Value of Family History as a Risk Indicator for Venous Thrombosis

“…During pregnancy and oral contraceptive use, protein S levels are reduced and cannot be used as an indicator of a genetic defect of protein S. We therefore excluded women who were pregnant (0 participants) or used oral contraceptives (146 patients [7.5%] and 259 control subjects [10.6%]) at the time of the blood draw. We also excluded vitamin K antagonist users (208 patients [10.6%] and 20 control subjects [0.8%]) because protein C and protein S levels cannot be easily interpreted under these circumstances.…”

Common thrombophilia markers in young patients with primary arterial and venous thrombosis

“…There is also a need to look for other mutations that could lead to APC-R in Indians. 2 In our study, Antithrombin III was found normal in all patients. Antithrombin deficiency is significantly not related to increased risk of thrombosis.…”

“…1 The term thrombophilia was introduced by Egeberg in 1975. 2 Thrombosis results due to the interaction of multiple genetic as well as acquired factors. Genetic factors include activated protein C resistance, deficiency of natural anticoagulants like protein C, protein S, antithrombin III.…”

Superficial Vein Thrombosis

“…It may be useful to evaluate patients with SVT who do not have varicose veins and have one other risk factor for SVT for markers of thrombophilia including protein S de fi ciency, protein C de fi ciency, anticardiolipin antibodies, beta2 glycoprotein, factor V Leiden, prothrombin mutation, antithrombin de fi ciency, lupus anticoagulant, methylene tetrahydrofolate reductase de fi ciency, and fasting serum homocysteine [ 10,13,16,[18][19][20] .…”