[Diagnosis 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 mutation, protein C- and S-deficiency, prothrombin 20210A polymorphism and antithrombin deficiency. Moreover, elevated plasma levels of homocysteine also are associated with enhanced thrombosis risk. Severity of thromboembolic risk depends upon type of coagulation defect, hetero- or homocygosity and occurrence of additional acquired risk factors like immobilisation. Therapy of thromboembolic diseases must always be planned considering both clinical circumstances and laboratory findings.
Kemkes-Matthes
B
B
Zentrum für Innere Medizin, Universität Giessen. Bettina.Kemkes-Matthes@innere.med.uni-giessen.de
D020016:Activated Protein C Resistance / Q000175:diagnosis / Q000235:genetics; D001780:Blood Coagulation Tests; D005165:Factor V / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D018455:Protein S Deficiency / Q000175:diagnosis* / Q000235:genetics; D012307:Risk Factors; D019851:Thrombophilia / Q000175:diagnosis* / Q000235:genetics
C095381:factor V Leiden; D005165:Factor V