Disorders of the coagulation system (thrombophilia)

Just as there are congenital and acquired disorders that lead to increased bleeding, there are also diseases that are associated with hypercoagulability and manifest clinically with an increased rate of thrombus formation and pulmonary embolism.
In everyday clinical practice, thrombotic events outweigh hemophilia many times over. The mortality rate from a thromboembolic event is 1% at an advanced age.
Thrombophilia can have the following causes:

• Resistance of factor Va to the activated protein C
• HR2 haplotype
• Defects of the protein C
• Defects of the protein S
• Antithrombin III deficiency
• Prothrombin mutation G 20210 A
• Overexpression of factor VIII:C
• Antiphospholipid Syndrome
• Defects of the heparin cofactor II
• Dysfibrinogenemias
• Plasminogen deficiency
• Hyperhomocysteinemia
• Paraneoplasia.

The following parameters are available to detect thrombophilia:

• ProC Global Test
• F-V Leiden determination
• Determination of protein C/S (concentration and activity)
• Thrombin-antithrombin III complex (TAT)
• Prothrombin fragments 1 and 2
• Fibrinopeptide A
• Prothrombin fragments
• Fibrinomers
• D-dimers
• Platelet factor 4

1. HA Neumann (2014) The coagulation system. ABW-Wissenschaftsverlag GmbH Berlin S. 211F.