[Diagnosis of thrombophilia]]

Zentralbl Chir. 2001 Jun;126(6):433-7. doi: 10.1055/s-2001-14762.
[Article in German]

Abstract

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.

Publication types

  • English Abstract

MeSH terms

  • Activated Protein C Resistance / diagnosis
  • Activated Protein C Resistance / genetics
  • Blood Coagulation Tests*
  • Factor V / genetics
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Protein S Deficiency / diagnosis*
  • Protein S Deficiency / genetics
  • Risk Factors
  • Thrombophilia / diagnosis*
  • Thrombophilia / genetics

Substances

  • factor V Leiden
  • Factor V