Thrombosis refers to the complete or partial occlusion of a vessel or heart cavity. This occlusion is caused by a thrombus (blood clot).
The most dangerous thing about thrombosis is the risk of the thrombus becoming detached from the vessel wall, which is called an embolism. In this way, the blood clot can travel on to the lungs (pulmonary embolism), the heart (myocardial infarction/heart attack), or even the brain (apoplexy/stroke), where it can clog vital vessels.
Diagnostics
Laboratory diagnostics can be used to detect, among other things, any gene mutations that are often present in cases of increased tendency to thrombosis (thrombophilia):1st-order laboratory parameters – obligatory laboratory tests.
- Factor V Leiden mutation – so-called APC resistance (APC genotyping) (approximately 5%).
- Factor II mutation (prothrombin mutation) (very common).
- Hyperhomocysteinemia (very common).
- Antithrombin III deficiency (common) [inhibition of fibrin formation; thus, deficiency leads to increased risk of thrombosis]
- Protein C deficiency (common) [inhibition of fibrin formation]
- Protein S deficiency (common) [inhibition of fibrin formation]
- Factor VIII elevation (antihemophilic globulin A) (common) [factors favor fibrin formation; elevation thus leads to increased risk of thrombosis]
- Platelets
- Dysfibrinogenemia (rare) – fibrinogen
Laboratory parameters 2nd order – depending on the results of the history, physical examination, etc. – for differential diagnostic clarification.
- Phospholipid antibodies:
- Auto-Ak against cardiolipin/cardiolipin antibodies – associated with venous or arterial vascular occlusion (antiphospholipid syndrome, (APS)).
- Lupus anticogulant
- PAI (plasma activator inhibitor).
Laboratory results can be used to clearly determine whether you have one of the gene mutations and are therefore at increased risk of thrombosis.
Indications for thrombophilia diagnostics
- Unexplained thromboembolism in the family
- Idiopathic thromboembolism (of unknown cause) in young patients
- Recurrent (recurrent) thromboembolism.
- Recurrent thromboembolism under sufficient anticoagulation (adequate measures of blood clotting).
- Suspected antiphospholipid antibody syndrome (APS).
Note: At least half of all patients with venous thromboembolism have at least one form of thrombophilia.
Benefit
If you know your individual risk of thrombosis, you can take optimal precautions to consciously reduce your risk of pulmonary embolism, myocardial infarction (heart attack), and apoplexy (stroke) significantly.Your timely precautions can thus be vital.
