Diagnostic measures for evaluation of thrombophilia

Using laboratory testing, coagulation alterations can be detected in about 50 % of familial thrombophilia. Most common hereditary coagulation defects leading to enhanced thrombosis risk are aPC resistance/Factor V Leiden muta tion, protein C- and S-deficiency, prothrombin 20210A polymorphism and anti thrombin deficiency. Moreover, elevated plasma levels of homocysteine also are associated with enhanced thrombosis risk. Severity of thromboembolic ri sk depends upon type of coagulation defect, hetero- or homocygosity and occ urrence of additional acquired risk factors like immobilisation. Therapy of thromboembolic diseases must always be planned considering both clinical c ircumstances and laboratory findings.